Prof. Dr. med. Jutta Gärtner

 
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  • 2022 Journal Article | Research Paper | 
    ​ ​Effect of fingolimod on health-related quality of life in paediatric patients with multiple sclerosis: results from the phase 3 PARADIG MS Study​
    Krupp, L.; Banwell, B.; Chitnis, T.; Deiva, K.; Gärtner, J. ; Ghezzi, A. & Huppke, P.  et al.​ (2022) 
    BMJ Neurology Open4(1) art. e000215​.​ DOI: https://doi.org/10.1136/bmjno-2021-000215 
    Details  DOI 
  • 2022 Journal Article | Research Paper | 
    ​ ​Deep breathing couples CSF and venous flow dynamics​
    Kollmeier, J. M.; Gürbüz-Reiss, L.; Sahoo, P.; Badura, S.; Ellebracht, B.; Keck, M. & Gärtner, J.  et al.​ (2022) 
    Scientific Reports12(1) art. 2568​.​ DOI: https://doi.org/10.1038/s41598-022-06361-x 
    Details  DOI 
  • 2021 Journal Article | Research Paper | 
    ​ ​Follow-Up of a Case of Dopamine-Mediated Yawning-Fatigue-Syndrome Responsive to Opioids, Successful Desensitization via Graded Activity Treatment​
    Dibaj, P. ; Seeger, D.; Gärtner, J.   & Petzke, F. ​ (2021) 
    Neurology International13(1).​ DOI: https://doi.org/10.3390/neurolint13010008 
    Details  DOI  PMID  PMC 
  • 2021 Conference Abstract
    ​ ​Using historical relapse rates for the design of an innovative Phase 3 study with ofatumumab and siponimod in paediatric multiple sclerosis​
    Gärtner, J. ; Thomas, M.; Li, J.; Karlsson, G.; Schmidli, H.; Haring, D. A. & Friede, T. et al.​ (2021)
    Multiple Sclerosis Journal27(Suppl. 2) pp. 195​-196. ​37th Congress of the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS 2021)​, virtual.
    Details  WoS 
  • 2021 Conference Abstract
    ​ ​Innovative phase 3 NEOS study design evaluating efficacy and safety of ofatumumab and siponimod versus fingolimod in paediatric multiple sclerosis​
    Gärtner, J. ; Deiva, K.; Graves, J.; Hemingway, C.; Karlsson, G.; Su, W. & Haring, D. A. et al.​ (2021)
    Multiple Sclerosis Journal27(Suppl. 2) pp. 198​-199. ​37th Congress of the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS 2021)​, virtual.
    Details  WoS 
  • 2021 Journal Article
    ​ ​Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease​
    Sofou, K.; Meier, K.; Sanderson, L. E; Kaminski, D.; Montoliu‐Gaya, L.; Samuelsson, E. & Blomqvist, M. et al.​ (2021) 
    EMBO Molecular Medicine13(5).​ DOI: https://doi.org/10.15252/emmm.202013376 
    Details  DOI 
  • 2021 Journal Article | 
    ​ ​Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales​
    Ludwig, H. C. ; Bock, H. C. ; Gärtner, J. ; Schiller, S. ; Frahm, J.   & Dreha-Kulaczewski, S. ​ (2021) 
    Neuropediatrics52(04) pp. 233​-241​.​ DOI: https://doi.org/10.1055/s-0041-1731981 
    Details  DOI 
  • 2021 Journal Article | Erratum | 
    ​ ​Erratum zu: Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen​
    Rascher, W.; Klingebiel, T.; Herting, E.; Hoffmann, G. F.; Berner, R.; Krägeloh-Mann, I. & Gärtner, J.  et al.​ (2021) 
    Monatsschrift Kinderheilkunde169(1) pp. 60​-61​.​ DOI: https://doi.org/10.1007/s00112-020-01091-8 
    Details  DOI 
  • 2021 Journal Article | Research Paper | 
    ​ ​LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders​
    Klemp, H. G.; Kettwig, M.; Streit, F. ; Gärtner, J. ; Rosewich, H.   & Krätzner, R. ​ (2021) 
    Metabolites11(6) pp. 347​.​ DOI: https://doi.org/10.3390/metabo11060347 
    Details  DOI  PMID  PMC 
  • 2021 Journal Article | Research Paper | 
    ​ ​Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1 tm1Kds mice and X‐linked adrenoleukodystrophy patients​
    Kettwig, M.; Klemp, H.; Nessler, S.; Streit, F.; Krätzner, R.; Rosewich, H. & Gärtner, J. ​ (2021) 
    Journal of Inherited Metabolic Disease44(5) pp. 1174​-1185​.​ DOI: https://doi.org/10.1002/jimd.12389 
    Details  DOI  PMID  PMC 
  • 2021 Journal Article | Research Paper | 
    ​ ​Concurrent axon and myelin destruction differentiates X‐linked adrenoleukodystrophy from multiple sclerosis​
    Bergner, C. G.; Genc, N.; Hametner, S.; Franz, J.; Mitkovski, M.; Weber, M. S.   & Stoltenburg‐Didinger, G. et al.​ (2021) 
    Glia69(10) art. glia.24042​.​ DOI: https://doi.org/10.1002/glia.24042 
    Details  DOI  PMID  PMC 
  • 2021 Journal Article | Research Paper | 
    ​ ​Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy​
    Kettwig, M.; Ternka, K.; Wendland, K.; Krüger, D. M.; Zampar, S.; Schob, C. & Franz, J. et al.​ (2021) 
    Nature Communications12(1) art. 6530​.​ DOI: https://doi.org/10.1038/s41467-021-26880-x 
    Details  DOI  PMID  PMC 
  • 2020 Journal Article
    ​ ​Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?​
    Pennisi, A.; Rötig, A.; Roux, C.-J.; Lévy, R.; Henneke, M.; Gärtner, J.   & Teke Kisa, P. et al.​ (2020) 
    Journal of Medical Genetics59(2) pp. 204​-208​.​ DOI: https://doi.org/10.1136/jmedgenet-2020-107367 
    Details  DOI 
  • 2020 Journal Article
    ​ ​Dopamine-Mediated Yawning-Fatigue Syndrome With Specific Recurrent Initiation and Responsiveness to Opioids​
    Dibaj, P. ; Brockmann, K.   & Gärtner, J. ​ (2020) 
    JAMA Neurology77(2) pp. 254​.​ DOI: https://doi.org/10.1001/jamaneurol.2019.3937 
    Details  DOI 
  • 2020 Journal Article
    ​ ​Immune Sensing of Synthetic, Bacterial, and Protozoan RNA by Toll-like Receptor 8 Requires Coordinated Processing by RNase T2 and RNase 2​
    Ostendorf, T.; Zillinger, T.; Andryka, K.; Schlee-Guimaraes, T. M.; Schmitz, S.; Marx, S. & Bayrak, K. et al.​ (2020) 
    Immunity52(4) pp. 591​-605.e6​.​ DOI: https://doi.org/10.1016/j.immuni.2020.03.009 
    Details  DOI 
  • 2020 Journal Article
    ​ ​Effect of fingolimod on MRI outcomes in patients with paediatric-onset multiple sclerosis: results from the phase 3 PARADIG MS study​
    Arnold, D. L; Banwell, B.; Bar-Or, A.; Ghezzi, A.; Greenberg, B. M; Waubant, E. & Giovannoni, G. et al.​ (2020) 
    Journal of Neurology, Neurosurgery & Psychiatry91(5) pp. 483​-492​.​ DOI: https://doi.org/10.1136/jnnp-2019-322138 
    Details  DOI 
  • 2020 Journal Article
    ​ ​The failure of microglia to digest developmental apoptotic cells contributes to the pathology of RNASET2‐deficient leukoencephalopathy​
    Hamilton, N.; Rutherford, H. A.; Petts, J. J.; Isles, H. M.; Weber, T.; Henneke, M. & Gärtner, J.  et al.​ (2020) 
    Glia68(7) pp. 1531​-1545​.​ DOI: https://doi.org/10.1002/glia.23829 
    Details  DOI 
  • 2020 Journal Article
    ​ ​Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease​
    Adang, L. A.; Schlotawa, L.; Groeschel, S.; Kehrer, C.; Harzer, K.; Staretz‐Chacham, O. & Silva, T. O. et al.​ (2020) 
    Journal of Inherited Metabolic Disease43(6) pp. 1298​-1309​.​ DOI: https://doi.org/10.1002/jimd.12298 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency​
    Schlotawa, L.; Preiskorn, J.; Ahrens‐Nicklas, R.; Schiller, S. ; Adang, L. A.; Gärtner, J.   & Friede, T. ​ (2020) 
    Journal of Inherited Metabolic Disease43(6) pp. 1288​-1297​.​ DOI: https://doi.org/10.1002/jimd.12282 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy​
    Meier, K.; Gärtner, J.   & Huppke, P. ​ (2020) 
    Neurology - Neuroimmunology Neuroinflammation8(1) pp. e922​.​ DOI: https://doi.org/10.1212/NXI.0000000000000922 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Arzneimittel für neuartige Therapien​
    Rascher, W.; Klingebiel, T.; Herting, E.; Hoffmann, G. F.; Berner, R.; Krägeloh-Mann, I. & Gärtner, J.  et al.​ (2020) 
    Monatsschrift Kinderheilkunde169(1) pp. 57​-59​.​ DOI: https://doi.org/10.1007/s00112-020-01068-7 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen​
    Rascher, W.; Klingebiel, T.; Herting, E.; Hoffmann, G. F.; Berner, R.; Krägeloh-Mann, I. & Gärtner, J.  et al.​ (2020) 
    Monatsschrift Kinderheilkunde169(S1) pp. 18​-28​.​ DOI: https://doi.org/10.1007/s00112-020-01056-x 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Serum neurofilament light chain is a useful biomarker in pediatric multiple sclerosis​
    Reinert, M.-C. ; Benkert, P.; Wuerfel, J.; Michalak, Z.; Ruberte, E.; Barro, C. & Huppke, P.  et al.​ (2020) 
    Neurology - Neuroimmunology Neuroinflammation7(4) pp. e749​.​ DOI: https://doi.org/10.1212/NXI.0000000000000749 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Temporal profile of lymphocyte counts and relationship with infections with fingolimod therapy in paediatric patients with multiple sclerosis: Results from the PARADIGMS study​
    Chitnis, T.; Banwell, B.; Krupp, L.; Arnold, D. L; Bar-Or, A.; Brück, W.   & Giovannoni, G. et al.​ (2020) 
    Multiple Sclerosis Journal27(6) pp. 922​-932​.​ DOI: https://doi.org/10.1177/1352458520936934 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity​
    Lazarov, E.; Hillebrand, M.; Schröder, S.; Ternka, K.; Hofhuis, J. ; Ohlenbusch, A.   & Barrantes-Freer, A.  et al.​ (2020) 
    Neurobiology of Disease143 pp. 105012​.​ DOI: https://doi.org/10.1016/j.nbd.2020.105012 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia​
    Weber, T.; Schlotawa, L.; Dosch, R.; Hamilton, N.; Kaiser, J.; Schiller, S.   & Wenske, B. et al.​ (2020) 
    Biology Open9(5) pp. bio049239​.​ DOI: https://doi.org/10.1242/bio.049239 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​Therapy of highly active pediatric multiple sclerosis​
    Huppke, P. ; Huppke, B. ; Ellenberger, D. ; Rostasy, K.; Hummel, H. ; Stark, W.   & Brück, W.  et al.​ (2019) 
    Multiple Sclerosis Journal25(1) art. 135245851773284​.​ DOI: https://doi.org/10.1177/1352458517732843 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Association of Obesity With Multiple Sclerosis Risk and Response to First-line Disease Modifying Drugs in Children​
    Huppke, B. ; Ellenberger, D. ; Hummel, H.-M. ; Stark, W. ; Röbl, M.; Gärtner, J.   & Huppke, P. ​ (2019) 
    JAMA Neurology76(10) pp. 1157​.​ DOI: https://doi.org/10.1001/jamaneurol.2019.1997 
    Details  DOI 
  • 2019 Journal Article
    ​ ​„Vanishing white matter disease“ im Erwachsenenalter​
    Buggle, F.; Ciric, E.; Boujan, T.; Ohlenbusch, A. ; Gärtner, J.   & Grau, A. J.​ (2019) 
    Der Nervenarzt90(8) pp. 840​-842​.​ DOI: https://doi.org/10.1007/s00115-019-0693-7 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Breathing drives CSF: Impact on spaceflight disease and hydrocephalus​
    Ludwig, H.-C. ; Frahm, J. ; Gärtner, J.   & Dreha-Kulaczewski, S. ​ (2019) 
    Proceedings of the National Academy of Sciences116(41) pp. 20263​-20264​.​ DOI: https://doi.org/10.1073/pnas.1910305116 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia​
    Huppke, P. ; Wegener, E.; Gilley, J.; Angeletti, C.; Kurth, I.; Drenth, J. P. & Stadelmann, C.  et al.​ (2019) 
    Experimental Neurology320 pp. 112958​.​ DOI: https://doi.org/10.1016/j.expneurol.2019.112958 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Improved description of clinical features of multiple sulfatase deficiency: A meta-analysis of published cases​
    Schlotawa, L.; Preiskorn, J.; Ahrens-Nicklas, R.; Adang, L. A.; Gärtner, J.   & Friede, T. ​ (2019) 
    Molecular Genetics and Metabolism126(2) pp. S131​.​ DOI: https://doi.org/10.1016/j.ymgme.2018.12.337 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Upward movement of cerebrospinal fluid in obstructive hydrocephalus—revision of an old concept​
    Bock, H. C. ; Dreha-Kulaczewski, S. F. ; Alaid, A. ; Gärtner, J.   & Ludwig, H. C. ​ (2019) 
    Child's Nervous System35(5) pp. 833​-841​.​ DOI: https://doi.org/10.1007/s00381-019-04119-x 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Consistent control of disease activity with fingolimod versus IFN β-1a in paediatric-onset multiple sclerosis: further insights from PARADIG MS​
    Deiva, K.; Huppke, P. ; Banwell, B.; Chitnis, T.; Gärtner, J. ; Krupp, L. & Waubant, E. et al.​ (2019) 
    Journal of Neurology, Neurosurgery & Psychiatry, pp. jnnp-2019-321124​.​ DOI: https://doi.org/10.1136/jnnp-2019-321124 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies​
    Schiller, S. ; Henneke, M. & Gärtner, J. ​ (2019) 
    Neuropediatrics50(04) pp. 211​-218​.​ DOI: https://doi.org/10.1055/s-0039-1685529 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​Aktuelle Therapieempfehlungen bei multipler Sklerose im Kindes- und Jugendalter​
    Stark, W. & Gärtner, J. ​ (2019) 
    Monatsschrift Kinderheilkunde,.​ DOI: https://doi.org/10.1007/s00112-019-0655-y 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​B cell depletion can be effective in multiple sclerosis but failed in a patient with advanced childhood cerebral X-linked adrenoleukodystrophy​
    Rosewich, H. ; Nessler, S. ; Brück, W.   & Gärtner, J. ​ (2019) 
    Therapeutic Advances in Neurological Disorders12.​ DOI: https://doi.org/10.1177/1756286419868133 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient​
    Schlotawa, L.; Dierks, T.; Christoph, S.; Cloppenburg, E.; Ohlenbusch, A.; Korenke, G. C. & Gärtner, J. ​ (2019) 
    JIMD Reports49(1) pp. 48​-52​.​ DOI: https://doi.org/10.1002/jmd2.12074 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​Inborn errors of metabolism leading to neuronal migration defects​
    Schiller, S. ; Rosewich, H. ; Grünewald, S. & Gärtner, J. ​ (2019) 
    Journal of Inherited Metabolic Disease43(1) pp. 145​-155​.​ DOI: https://doi.org/10.1002/jimd.12194 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​Spinal CSF flow in response to forced thoracic and abdominal respiration​
    Aktas, G.; Kollmeier, J. M.; Joseph, A. A.; Merboldt, K.-D.; Ludwig, H.-C.; Gärtner, J.   & Frahm, J.  et al.​ (2019) 
    Fluids and Barriers of the CNS16(1) art. 10​.​ DOI: https://doi.org/10.1186/s12987-019-0130-0 
    Details  DOI  PMID  PMC 
  • 2019 Journal Article | Erratum | 
    ​ ​Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease​
    Stumpf, S. K.; Berghoff, S. A.; Trevisiol, A.; Spieth, L.; Düking, T.; Schneider, L. V. & Schlaphoff, L. et al.​ (2019) 
    Acta Neuropathologica138(4) pp. 673​-674​.​ DOI: https://doi.org/10.1007/s00401-019-02064-2 
    Details  DOI  PMID  PMC 
  • 2019 Journal Article | 
    ​ ​Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease​
    Stumpf, S. K.; Berghoff, S. A.; Trevisiol, A. ; Spieth, L.; Düking, T.; Schneider, L. V. & Schlaphoff, L. et al.​ (2019) 
    Acta Neuropathologica138(1) pp. 147​-161​.​ DOI: https://doi.org/10.1007/s00401-019-01985-2 
    Details  DOI  PMID  PMC 
  • 2018 Journal Article
    ​ ​Neurologic phenotypes associated with COL4A1 / 2 mutations​
    Zagaglia, S.; Selch, C.; Nisevic, J. R.; Mei, D.; Michalak, Z.; Hernandez-Hernandez, L. & Krithika, S. et al.​ (2018) 
    Neurology91(22) pp. e2078​-e2088​.​ DOI: https://doi.org/10.1212/WNL.0000000000006567 
    Details  DOI 
  • 2018 Journal Article
    ​ ​Trial of Fingolimod versus Interferon Beta-1a in Pediatric Multiple Sclerosis​
    Chitnis, T.; Arnold, D. L.; Banwell, B.; Brück, W. ; Ghezzi, A.; Giovannoni, G. & Greenberg, B. et al.​ (2018) 
    New England Journal of Medicine379(11) pp. 1017​-1027​.​ DOI: https://doi.org/10.1056/NEJMoa1800149 
    Details  DOI 
  • 2018 Journal Article
    ​ ​Potential Risks to Stable Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Children With Cerebral X-linked Adrenoleukodystrophy​
    Kühl, J.-S.; Kupper, J.; Baqué, H.; Ebell, W.; Gärtner, J. ; Korenke, C. & Spors, B. et al.​ (2018) 
    JAMA Network Open1(3) pp. e180769​.​ DOI: https://doi.org/10.1001/jamanetworkopen.2018.0769 
    Details  DOI 
  • 2018 Journal Article
    ​ ​Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency​
    Alston, C. L.; Heidler, J.; Dibley, M. G.; Kremer, L. S.; Taylor, L. S.; Fratter, C. & French, C. E. et al.​ (2018) 
    The American Journal of Human Genetics103(4) pp. 592​-601​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.08.013 
    Details  DOI 
  • 2018 Journal Article
    ​ ​Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features​
    Deng, M. Y.; Sill, M.; Chiang, J.; Schittenhelm, J.; Ebinger, M.; Schuhmann, M. U. & Monoranu, C.-M. et al.​ (2018) 
    Acta Neuropathologica136(2) pp. 239​-253​.​ DOI: https://doi.org/10.1007/s00401-018-1865-4 
    Details  DOI 
  • 2018 Journal Article
    ​ ​Genetics of intellectual disability in consanguineous families​
    Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Herwig, R.; Hosseini, M. & Oppitz, C. et al.​ (2018) 
    Molecular Psychiatry,.​ DOI: https://doi.org/10.1038/s41380-017-0012-2 
    Details  DOI 
  • 2018 Journal Article
    ​ ​Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement​
    Ahrens-Nicklas, R.; Schlotawa, L.; Ballabio, A.; Brunetti-Pierri, N.; De Castro, M.; Dierks, T. & Eichler, F. et al.​ (2018) 
    Molecular Genetics and Metabolism123(3) pp. 337​-346​.​ DOI: https://doi.org/10.1016/j.ymgme.2018.01.005 
    Details  DOI 
  • 2018 Journal Article
    ​ ​Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia​
    Ohlenbusch, A. ; Jung, K. ; Steinfeld, R. ; Gärtner, J.   & Kettwig, M.​ (2018) 
    Journal of Pediatric Genetics07(01) pp. 014​-018​.​ DOI: https://doi.org/10.1055/s-0037-1607341 
    Details  DOI 
  • 2018 Journal Article | 
    ​ ​Respiration and the watershed of spinal CSF flow in humans​
    Dreha-Kulaczewski, S. ; Konopka, M.; Joseph, A. A; Kollmeier, J.; Merboldt, K.-D.; Ludwig, H.-C.   & Gärtner, J.  et al.​ (2018) 
    Scientific Reports8(1).​ DOI: https://doi.org/10.1038/s41598-018-23908-z 
    Details  DOI 
  • 2018 Journal Article | Research Paper | 
    ​ ​Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes​
    Soliman, K.; Göttfert, F. ; Rosewich, H. ; Thoms, S.   & Gärtner, J. ​ (2018) 
    Scientific Reports8(1) art. 7809​.​ DOI: https://doi.org/10.1038/s41598-018-24119-2 
    Details  DOI  PMID  PMC 
  • 2018 Journal Article | 
    ​ ​Cognitive deficits including executive functioning in relation to clinical parameters in paediatric MS patients​
    Wuerfel, E.; Weddige, A.; Hagmayer, Y.; Jacob, R.; Wedekind, L.; Stark, W. & Gärtner, J. ​ (2018) 
    PLoS One13(3) art. e0194873​.​ DOI: https://doi.org/10.1371/journal.pone.0194873 
    Details  DOI  PMID  PMC 
  • 2017 Journal Article
    ​ ​Identification of the Upward Movement of Human CSF In Vivo and its Relation to the Brain Venous System​
    Dreha-Kulaczewski, S.; Joseph, A. A.; Merboldt, K.-D.; Ludwig, H.-C.; Gärtner, J.   & Frahm, J.​ (2017) 
    The Journal of Neuroscience37(9) pp. 2395​-2402​.​ DOI: https://doi.org/10.1523/JNEUROSCI.2754-16.2017 
    Details  DOI 
  • 2017 Journal Article
    ​ ​Interferon beta-1b in treatment-naïve paediatric patients with relapsing–remitting multiple sclerosis: Two-year results from the BETAPAEDIC study​
    Gärtner, J. ; Brück, W. ; Weddige, A. ; Hummel, H. ; Norenberg, C. & Bugge, J.-P.​ (2017) 
    Multiple Sclerosis Journal - Experimental, Translational and Clinical3(4) art. 205521731774762​.​ DOI: https://doi.org/10.1177/2055217317747623 
    Details  DOI 
  • 2017 Journal Article
    ​ ​A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy​
    Weissbach, S. ; Reinert, M.-C. ; Altmüller, J.; Krätzner, R. ; Thiele, H.; Rosenbaum, T. & Nürnberg, P. et al.​ (2017) 
    American Journal of Medical Genetics Part A173(10) pp. 2803​-2807​.​ DOI: https://doi.org/10.1002/ajmg.a.38390 
    Details  DOI 
  • 2017 Journal Article | 
    ​ ​Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder​
    Huppke, P. ; Weissbach, S. ; Church, J. A.; Schnur, R.; Krusen, M.; Dreha-Kulaczewski, S.   & Kühn-Velten, W. N. et al.​ (2017) 
    Nature Communications8(1) art. 818​.​ DOI: https://doi.org/10.1038/s41467-017-00932-7 
    Details  DOI 
  • 2017 Journal Article | Research Paper
    ​ ​Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy​
    Hofhuis, J. ; Bersch, K.; Büssenschütt, R.; Drzymalski, M.; Liebetanz, D. ; Nikolaev, V. O.   & Wagner, S.  et al.​ (2017) 
    Journal of Cell Science130(5) pp. 841​-852​.​ DOI: https://doi.org/10.1242/jcs.198861 
    Details  DOI  PMID  PMC 
  • 2016 Conference Abstract
    ​ ​Oligodendroglial damage and remyelination in paediatric multiple sclerosis lesions.​
    Pfeifenbring, S.; Bunyan, R. F.; Metz, I.; Huppke, P.; Gaertner, J. ; Lucchinetti, C. F. & Brueck, W.​ (2016)
    Multiple Sclerosis Journal22 , London, ENGLAND.
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2016 Conference Abstract
    ​ ​Interferon beta-1b in treatment-naive paediatric patients with relapsing-remitting MS: 2-year results from the BETAPAEDIC study​
    Gaertner, J. ; Brueck, W.; Weddige, A.; Hummel, H. M.; Norenberg, C. & Bugge, J. P.​ (2016)
    Multiple Sclerosis Journal22 , London, ENGLAND.
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2016 Journal Article
    ​ ​Was bei der pädiatrischen multiplen Sklerose zu beachten ist​
    Schiller, S. ; Stark, W.   & Gärtner, J. ​ (2016) 
    DNP - Der Neurologe und Psychiater17(12) pp. 32​-40​.​ DOI: https://doi.org/10.1007/s15202-016-1061-0 
    Details  DOI 
  • 2016 Conference Abstract
    ​ ​Metamizole/dipyrone for the relief of cancer pain - A systematic review and evidence based recommendationsfor clinical practice of the German Guideline Program in Oncology​
    Gaertner, J. ; Stamer, U. M.; Remi, C.; Voltz, R.; Bausewein, C.; Sabatowski, R. & Wirtz, S. et al.​ (2016)
    Oncology Research and Treatment39 pp. 167​-168. 
    Basel​: Karger.
    Details  WoS 
  • 2016 Conference Abstract
    ​ ​Fingolimod in active pediatric onset multiple sclerosis​
    Huppke, P.; Hummel, H. M.; Stark, W. & Gaertner, J. ​ (2016)
    Multiple Sclerosis Journal22 , London, ENGLAND.
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2016 Conference Abstract
    ​ ​PARADIGMS baseline characteristics: a randomised, double-blind study of fingolimod in paediatric patients with multiple sclerosis​
    Chitnis, T.; Arnold, D. L.; Banwell, B.; Brueck, W.; Ghezzi, A.; Giovannoni, G. & Greenberg, B. et al.​ (2016)
    Multiple Sclerosis Journal22 pp. 102​-103. , London, ENGLAND.
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2016 Journal Article
    ​ ​Handlungsempfehlung gemäß der Leitlinie Pädiatrische Multiple Sklerose​
    Huppke, P.   & Gärtner, J. ​ (2016) 
    Monatsschrift Kinderheilkunde164(8) pp. 701​-702​.​ DOI: https://doi.org/10.1007/s00112-016-0123-x 
    Details  DOI 
  • 2016 Journal Article
    ​ ​Frühzeitige spezialisierte palliativmedizinische Mitbehandlung​
    Gärtner, J. ; Wedding, U. & Alt-Epping, B. ​ (2016) 
    Zeitschrift für Palliativmedizin17(02) pp. 83​-93​.​ DOI: https://doi.org/10.1007/s00740-016-0093-6 
    Details  DOI 
  • 2016 Journal Article | Research Paper
    ​ ​Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life​
    Lingen, M. ; Albers, L.; Borchers, M.; Haass, S.; Gärtner, J. ; Schroeder, S. & Goldbeck, L. et al.​ (2016) 
    Clinical Genetics89(2) pp. 258​-266​.​ DOI: https://doi.org/10.1111/cge.12629 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Review | 
    ​ ​Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review​
    Kettwig, M.; Elpeleg, O.; Wegener, E.; Dreha-Kulaczewski, S. F. ; Henneke, M.; Gärtner, J.  & Huppke, P. ​ (2016)
    BMC Neurology, 16​.​
    Biomed Central Ltd. DOI: https://doi.org/10.1186/s12883-016-0602-7 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article | Research Paper
    ​ ​Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene​
    Edvardson, S.; Kose, S.; Jalas, C.; Fattal-Valevski, A.; Watanabe, A.; Ogawa, Y. & Mamada, H. et al.​ (2016) 
    Journal of Medical Genetics53(2) pp. 132​-137​.​ DOI: https://doi.org/10.1136/jmedgenet-2015-103232 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article | Research Paper
    ​ ​Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization​
    Edvardson, S.; Wang, H.; Dor, T.; Atawneh, O.; Yaacov, B.; Gärtner, J.   & Cinnamon, Y. et al.​ (2016) 
    neurogenetics17(1) pp. 25​-30​.​ DOI: https://doi.org/10.1007/s10048-015-0464-y 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article | Research Paper
    ​ ​STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis​
    Guen, V. J.; Gamble, C.; Perez, D. E.; Bourassa, S.; Zappel, H. ; Gärtner, J.   & Lees, J. A. et al.​ (2016) 
    Cell Cycle15(5) pp. 678​-688​.​ DOI: https://doi.org/10.1080/15384101.2016.1147632 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article | Research Paper
    ​ ​Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients​
    Rosewich, H. ; Dechent, P. ; Krause, C. ; Ohlenbusch, A. ; Brockmann, K.   & Gärtner, J. ​ (2016) 
    Journal of Inherited Metabolic Disease39(6) pp. 869​-876​.​ DOI: https://doi.org/10.1007/s10545-016-9965-6 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article | Research Paper | 
    ​ ​The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code​
    Hofhuis, J. ; Schueren, F. ; Nötzel, C.; Lingner, T.; Gärtner, J. ; Jahn, O.   & Thoms, S. ​ (2016) 
    Open Biology6(11) art. 160246​.​ DOI: https://doi.org/10.1098/rsob.160246 
    Details  DOI  PMID  PMC 
  • 2016 Journal Article | Research Paper
    ​ ​Pediatric multiple sclerosis: ​Conventional first-line treatment and general management​
    Ghezzi, A.; Amato, M. P.; Makhani, N.; Shreiner, T.; Gärtner, J.   & Tenembaum, S.​ (2016) 
    Neurology87(9 Supplement 2) pp. S97​-S102​.​ DOI: https://doi.org/10.1212/WNL.0000000000002823 
    Details  DOI  PMID  PMC  WoS 
  • 2015 Conference Abstract
    ​ ​Interferon beta-1b in treatment-naive paediatric patients with relapsing-remitting MS: 1-year results from the BETAPAEDIC study​
    Gaertner, J. ; Brueck, W.; Weddige, A.; Hummel, H. M. & Bugge, J.-P.​ (2015)
    Multiple Sclerosis Journal21 , Barcelona, SPAIN.
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2015 Journal Article
    ​ ​Early specialized palliative care. A challenging gold standard​
    Gaertner, J. ; Wedding, U. & Alt-Epping, B.​ (2015) 
    Der Onkologe21(12) pp. 1182​-1188​.​ DOI: https://doi.org/10.1007/s00761-015-3072-4 
    Details  DOI  WoS 
  • 2015 Conference Abstract
    ​ ​Effect of Age on Efficacy of Fingolimod Treatment: Young Adult Patients with Multiple Sclerosis Demonstrate Higher Relative Reduction of Relapse Rates​
    Chitnis, T.; Karlsson, G.; Haering, D. A.; Ghezzi, A.; Pohl, D.; Gaertner, J.   & Putzki, N.​ (2015)
    Multiple Sclerosis Journal21(6) 
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2015 Journal Article | Research Paper
    ​ ​Palliativmedizin bei Erwachsenen, Kindern und Jugendlichen​
    Nauck, F.   & Gärtner, J. ​ (2015) 
    Kinderärztliche Praxis86(2) pp. 78​-82​.​
    Details 
  • 2015 Book Chapter
    ​ ​Pädiatrische Multiple Sklerose​
    Gärtner, J.  & Huppke, P. ​ (2015)
    In:​Schmidt, R.; Hoffmann, F.; Faiss, J.; Köhler, W.​ (Eds.), Multiple Sklerose pp. 75​-85. ​Urban & Fischer/Elsevier.
    Details 
  • 2015 Conference Abstract
    ​ ​Oral Fingolimod Versus Interferon-beta 1a in Paediatric Multiple Sclerosis: Design of A Double-blind Trial​
    Gaertner, J. ; Banwell, B.; Ghezzi, A.; Karlsson, G.; Chen, Y.; Merschhemke, M. & Putzki, N. et al.​ (2015)
    Multiple Sclerosis Journal21(6) 
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2015 Journal Article | Research Paper
    ​ ​Inspiration Is the Major Regulator of Human CSF Flow​
    Dreha-Kulaczewski, S. F. ; Joseph, A. A.; Merboldt, K.-D.; Ludwig, H.-C. ; Gärtner, J.   & Frahm, J. ​ (2015) 
    The Journal of neuroscience35(6) pp. 2485​-2491​.​ DOI: https://doi.org/10.1523/JNEUROSCI.3246-14.2015 
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article | Letter Note
    ​ ​Wild-type microglia do not reverse pathology in mouse models of Rett syndrome​
    Wang, J.; Wegener, J. E.; Huang, T.-W.; Sripathy, S.; Jesus-Cortes, H. de; Xu, P. & Tran, S. et al.​ (2015) 
    Nature521(7552) pp. E1​-U379​.​ DOI: https://doi.org/10.1038/nature14444 
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article | Research Paper | 
    ​ ​Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins​
    Buentzel, J. ; Vilardi, F.; Lotz-Havla, A. S.; Gärtner, J.   & Thoms, S. ​ (2015) 
    Scientific Reports5 art. 17420​.​ DOI: https://doi.org/10.1038/srep17420 
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article | Research Paper | 
    ​ ​MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis​
    Weygandt, M.; Hummel, H.-M. ; Schregel, K. ; Ritter, K.; Allefeld, C.; Dommes, E. & Huppke, P.  et al.​ (2015) 
    NeuroImage: Clinical7 pp. 400​-408​.​ DOI: https://doi.org/10.1016/j.nicl.2014.06.015 
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article | Research Paper
    ​ ​From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1​
    Kettwig, M.; Schubach, M.; Zimmermann, F. A.; Klinge, L. ; Mayr, J. A.; Biskup, S. & Sperl, W. et al.​ (2015) 
    Mitochondrion21 pp. 12​-18​.​ DOI: https://doi.org/10.1016/j.mito.2015.01.001 
    Details  DOI  PMID  PMC  WoS 
  • 2015 Journal Article | Research Paper
    ​ ​Extensive Acute Axonal Damage in Pediatric Multiple Sclerosis Lesions​
    Pfeifenbring, S. ; Bunyan, R. F.; Metz, I. ; Roever, C. ; Huppke, P. ; Gärtner, J.   & Lucchinetti, C. F. et al.​ (2015) 
    Annals of Neurology77(4) pp. 655​-667​.​ DOI: https://doi.org/10.1002/ana.24364 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | 
    ​ ​Clinical utility gene card for: Zellweger syndrome spectrum​
    Rosewich, H. ; Waterham, H.; Poll-The, B. T.; Ohlenbusch, A.   & Gärtner, J. ​ (2014) 
    European journal of human genetics : EJHG23(8).​ DOI: https://doi.org/10.1038/ejhg.2014.250 
    Details  DOI  PMID  PMC 
  • 2014 Conference Abstract
    ​ ​Interferon beta-1b in treatment-naive paediatric patients with relapsing-remitting MS: baseline data from the BETAPAEDIC study​
    Gaertner, J. ; Brueck, W.; Weddige, A. ; Reinhardt, K. & Bugge, J. P.​ (2014)
    Multiple Sclerosis Journal20 , Boston, MA.
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2014 Conference Abstract
    ​ ​Autosomal recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect​
    Wilichowski, E.; Abicht, A.; Mayr, H.; Horvath, R.; Sperl, W. & Gaertner, J. ​ (2014)
    Neuromuscular Disorders24(9-10) , Berlin, GERMANY.
    Oxford​: Pergamon-elsevier Science Ltd. DOI: https://doi.org/10.1016/j.nmd.2014.06.244 
    Details  DOI  WoS 
  • 2014 Conference Abstract
    ​ ​Sex related differences in T2 lesion load in pediatric multiple sclerosis patients​
    Hummel, H. M. ; Huppke, P.; Friede, T. ; Ellenberger, D.   & Gaertner, J. ​ (2014)
    Multiple Sclerosis Journal20 pp. 397​-398. , Boston, MA.
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2014 Book Chapter
    ​ ​Peroxisomale Störungen​
    Rosewich, H.  & Gärtner, J. ​ (2014)
    In:​Dahl, S. v.; Lammert, F.; Ullrich, K.; Wendel, U.​ (Eds.), Angeborene Stoffwechselkrankheiten bei Erwachsenen pp. 449​-460. ​Berlin, Heidelberg: ​Springer. DOI: https://doi.org/10.1007/978-3-642-45188-1_49 
    Details  DOI 
  • 2014 Book Chapter
    ​ ​Neurometabolische Erkrankungen​
    Gärtner, J. ​ (2014)
    In:​Reinhardt, Dietrich; Nicolai, Thomas; Zimmer, Klaus-Peter​ (Eds.), Therapie der Krankheiten im Kindes- und Jugendalter pp. 1185​-1190. ​Berlin: ​Springer. DOI: https://doi.org/10.1007/978-3-642-41814-3 
    Details  DOI 
  • 2014 Book Chapter
    ​ ​Multiple Sklerose (MS) und MS ähnliche Erkrankungen​
    Gärtner, J.  & Huppke, P. ​ (2014)
    In:​Hoffmann, G.; Lentze, M.; Zepp, F.; Spranger, J.​ (Eds.), Pädiatrie: Grundlagen und Praxis pp. 1747​-1751. ​Berlin, Heidelberg: ​Springer. DOI: https://doi.org/10.1007/978-3-642-41866-2_216 
    Details  DOI 
  • 2014 Conference Abstract
    ​ ​Fingolimod in paediatric multiple sclerosis: design of a double-blind study versus interferon beta-1a IM​
    Gaertner, J. ; Banwell, B.; Ghezzi, A.; Karlsson, G.; Li, B.; Merschhemke, M. & Putzki, N. et al.​ (2014)
    Journal of Neurology261 , Istanbul, TURKEY.
    Heidelberg​: Springer.
    Details  WoS 
  • 2014 Conference Abstract
    ​ ​Fingolimod in paediatric multiple sclerosis: design of a double-blind study versus interferon beta-1a IM​
    Gaertner, J. ; Banwell, B.; Ghezzi, A.; Karlsson, G.; Li, B.; Merschhemke, M. & Putzki, N. et al.​ (2014)
    European Journal of Neurology21 , Istanbul, TURKEY.
    Hoboken​: Wiley-blackwell.
    Details  WoS 
  • 2014 Book Chapter
    ​ ​Peroxisomale Krankheiten​
    Gärtner, J.  & Rosewich, H. ​ (2014)
    In:​vom Dahl, S.; Lammert, F.; Ullrich, K.; Wendel, U.​ (Eds.), Angeborene Stoffwechselkrankheiten bei Erwachsenen pp. 563​-569. ​Berlin: ​Springer.
    Details 
  • 2014 Journal Article | Research Paper
    ​ ​JC virus antibody status in a pediatric multiple sclerosis cohort: Prevalence, conversion rate and influence on disease severity​
    Huppke, P. ; Hummel, H.-M. ; Ellenberger, D. ; Pfeifenbring, S. ; Stark, W. ; Huppke, B.   & Brueck, W.  et al.​ (2014) 
    Multiple Sclerosis21(4) pp. 382​-387​.​ DOI: https://doi.org/10.1177/1352458514543340 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper | 
    ​ ​Tectonic gene mutations in patients with Joubert syndrome​
    Huppke, P. ; Wegener, E.; Boehrer-Rabel, H.; Bolz, H. J.; Zoll, B. ; Gärtner, J.   & Bergmann, C.​ (2014) 
    European Journal of Human Genetics23(5) pp. 616​-620​.​ DOI: https://doi.org/10.1038/ejhg.2014.160 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper | 
    ​ ​Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA​
    Sidhu, N. S.; Schreiber, K.; Proepper, K.; Becker, S. ; Uson, I.; Sheldrick, G. M.   & Gärtner, J.  et al.​ (2014) 
    Acta Crystallographica Section D Biological Crystallography70 pp. 1321​-1335​.​ DOI: https://doi.org/10.1107/S1399004714002739 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper
    ​ ​Multiple sclerosis in children and adolescents: incidence and clinical picture - new insights from the nationwide German surveillance (2009-2011)​
    Reinhardt, K.; Weiss, S.; Rosenbauer, J.; Gärtner, J.   & Kries, R. von​ (2014) 
    European Journal of Neurology21(4) pp. 654​-659​.​ DOI: https://doi.org/10.1111/ene.12371 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper
    ​ ​The expanding clinical and genetic spectrum of ATP1A3-related disorders​
    Rosewich, H. ; Ohlenbusch, A. ; Huppke, P. ; Schlotawa, L.; Baethmann, M.; Carrilho, I. & Fiori, S. et al.​ (2014) 
    Neurology82(11) pp. 945​-955​.​ DOI: https://doi.org/10.1212/WNL.0000000000000212 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper | 
    ​ ​Characterization of the MeCP2(R168X) Knockin Mouse Model for Rett Syndrome​
    Wegener, E.; Brendel, C.; Fischer, A. ; Huelsmann, S. ; Gärtner, J.   & Huppke, P. ​ (2014) 
    PLoS ONE9(12) art. e115444​.​ DOI: https://doi.org/10.1371/journal.pone.0115444 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper
    ​ ​Clinical presentation of pediatric multiple sclerosis before puberty​
    Huppke, B. ; Ellenberger, D. ; Rosewich, H. ; Friede, T. ; Gärtner, J.   & Huppke, P. ​ (2014) 
    European Journal of Neurology21(3) pp. 441​-446​.​ DOI: https://doi.org/10.1111/ene.12327 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Letter Note
    ​ ​Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome​
    Rosewich, H.; Weise, D.; Ohlenbusch, A.; Gärtner, J.   & Brockmann, K.​ (2014) 
    Neurology83(9) pp. 861​-863​.​ DOI: https://doi.org/10.1212/WNL.0000000000000735 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper | 
    ​ ​Peroxisomal lactate dehydrogenase is generated by translational readthrough in mammals​
    Schueren, F. ; Lingner, T.; George, R. ; Hofhuis, J. ; Dickel, C.; Gärtner, J.   & Thoms, S. ​ (2014) 
    eLife3 art. e03640​.​ DOI: https://doi.org/10.7554/eLife.03640 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper
    ​ ​Peroxisomes are juxtaposed to strategic sites on mitochondria​
    Cohen, Y.; Klug, Y. A.; Dimitrov, L.; Erez, Z.; Chuartzman, S. G.; Elinger, D. & Yofe, I. et al.​ (2014) 
    Molecular BioSystems10(7) pp. 1742​-1748​.​ DOI: https://doi.org/10.1039/c4mb00001c 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper
    ​ ​A novel ATP1A3 mutation with unique clinical presentation​
    Rosewich, H. ; Baethmann, M.; Ohlenbusch, A. ; Gärtner, J.   & Brockmann, K. ​ (2014) 
    Journal of the Neurological Sciences341(1-2) pp. 133​-135​.​ DOI: https://doi.org/10.1016/j.jns.2014.03.034 
    Details  DOI  PMID  PMC  WoS 
  • 2013 Conference Abstract
    ​ ​Autosomal-recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect​
    Wilichowski, E.; Abicht, A.; Mayr, H.; Horvath, R.; Sperl, W. & Gärtner, J. ​ (2013)
    Mitochondrion13(6) pp. 921​-922. 
    Oxford​: Elsevier Sci Ltd. DOI: https://doi.org/10.1016/j.mito.2013.07.062 
    Details  DOI  WoS 
  • 2013 Journal Article | 
    ​ ​Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model (vol 89, pg 389, 2011)​
    Brendel, C.; Belakhov, V.; Werner, H. B.; Wegener, E.; Gärtner, J. ; Nudelman, I. & Baasov, T. et al.​ (2013) 
    Journal of Molecular Medicine91(6).​ DOI: https://doi.org/10.1007/s00109-013-1029-x 
    Details  DOI  WoS 
  • 2013 Journal Article | Research Paper | 
    ​ ​Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels​
    Brendel, C.; Mielke, B.; Hillebrand, M.; Gärtner, J.   & Huppke, P. ​ (2013) 
    Journal of Neurodevelopmental Disorders5 art. 23​.​ DOI: https://doi.org/10.1186/1866-1955-5-23 
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article | 
    ​ ​Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma​
    Grapp, M.; Wrede, A.; Schweizer, M.; Huewel, S.; Galla, H.-J.; Snaidero, N. & Simons, M.  et al.​ (2013) 
    Nature Communications4 art. 2123​.​ DOI: https://doi.org/10.1038/ncomms3123 
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  • 2013 Journal Article | Research Paper
    ​ ​Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?​
    Shoukier, M.; Klein, N. ; Auber, B.; Wickert, J.; Schroeder, J.; Zoll, B.   & Burfeind, P.  et al.​ (2013) 
    Clinical Genetics83(1) pp. 53​-65​.​ DOI: https://doi.org/10.1111/j.1399-0004.2012.01850.x 
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  • 2013 Journal Article | Research Paper
    ​ ​West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation​
    Banne, E.; Atawneh, O.; Henneke, M.; Brockmann, K. ; Gärtner, J. ; Elpeleg, O. & Edvardson, S.​ (2013) 
    Journal of Medical Genetics50(11) pp. 772​-775​.​ DOI: https://doi.org/10.1136/jmedgenet-2013-101752 
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  • 2013 Journal Article
    ​ ​A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females​
    Dreha-Kulaczewski, S. ; Kalscheuer, V.; Tzschach, A.; Hu, H.; Helms, G.; Brockmann, K.   & Weddige, A.  et al.​ (2013) 
    JIMD reports13 pp. 91​-99​.​ DOI: https://doi.org/10.1007/8904_2013_261 
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  • 2013 Journal Article | Research Paper | 
    ​ ​Therapeutic Apheresis in Pediatric Patients with Acute CNS Inflammatory Demyelinating Disease​
    Koziolek, M. J. ; Friede, T. ; Ellenberger, D. ; Sigler, M. ; Huppke, B. ; Gärtner, J.   & Mueller, G.-A.  et al.​ (2013) 
    Blood Purification36(2) pp. 92​-97​.​ DOI: https://doi.org/10.1159/000354077 
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  • 2013 Journal Article | Research Paper
    ​ ​Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function​
    Shoukier, M.; Fuchs, S.; Schwaibold, E.; Lingen, M. ; Gärtner, J. ; Brockmann, K.   & Zirn, B.​ (2013) 
    Neuropediatrics44(5) pp. 268​-271​.​ DOI: https://doi.org/10.1055/s-0033-1333874 
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  • 2013 Journal Article | Research Paper
    ​ ​T-cell homeostasis in pediatric multiple sclerosis: Old cells in young patients​
    Balint, B.; Haas, J.; Schwarz, A. ; Jarius, S.; Fürwentsches, A.; Engelhardt, K. & Bussmann, C. et al.​ (2013) 
    Neurology81(9) pp. 784​-792​.​ DOI: https://doi.org/10.1212/wnl.0b013e3182a2ce0e 
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  • 2013 Journal Article | Research Paper | 
    ​ ​Acute disseminated encephalomyelitis followed by recurrent or monophasic optic neuritis in pediatric patients​
    Huppke, P. ; Rostasy, K.; Karenfort, M.; Huppke, B. ; Seidl, R.; Leiz, S. & Reindl, M. et al.​ (2013) 
    Multiple Sclerosis19(7) pp. 941​-946​.​ DOI: https://doi.org/10.1177/1352458512466317 
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  • 2013 Journal Article | Research Paper | 
    ​ ​Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency​
    Schlotawa, L.; Radhakrishnan, K.; Baumgartner, M.; Schmid, R.; Schmidt, B. ; Dierks, T. & Gärtner, J. ​ (2013) 
    European Journal of Human Genetics21(9) pp. 1020​-1023​.​ DOI: https://doi.org/10.1038/ejhg.2012.291 
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  • 2013 Journal Article | Letter Note
    ​ ​Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation​
    Schlotawa, L.; Hotz, A.; Zeschnigk, C.; Hartmann, B.; Gärtner, J.   & Morris-Rosendahl, D.​ (2013) 
    Journal of Neurology260(6) pp. 1678​-1680​.​ DOI: https://doi.org/10.1007/s00415-013-6941-z 
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  • 2013 Journal Article | Research Paper
    ​ ​Pediatric onset multiple sclerosis: McDonald criteria 2010 and the contribution of spinal cord MRI​
    Hummel, H.-M. ; Brueck, W. ; Dreha-Kulaczewski, S. F. ; Gärtner, J.   & Wuerfel, J.​ (2013) 
    Multiple Sclerosis19(10) pp. 1330​-1335​.​ DOI: https://doi.org/10.1177/1352458513493033 
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  • 2013 Journal Article | Research Paper
    ​ ​Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis​
    Krause, C. ; Rosewich, H. ; Woehler, A. & Gärtner, J. ​ (2013) 
    Human Molecular Genetics22(19) pp. 3844​-3857​.​ DOI: https://doi.org/10.1093/hmg/ddt238 
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  • 2012 Journal Article | Letter Note
    ​ ​Frequent but nonspecific venous narrowing in paediatric multiple sclerosis​
    Wuerfel, E.; Tysiak, N.; Hummel, H.-M. ; Wuerfel, J. & Gärtner, J. ​ (2012) 
    Multiple Sclerosis18(12).​ DOI: https://doi.org/10.1177/1352458512444662 
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  • 2012 Conference Abstract
    ​ ​MOLECULAR CHARACTERIZATION OF FOLATE RECEPTOR 1 MUTATIONS REVEAL PHENOTYPIC VARIATIONS OF CEREBRAL FOLATE TRANSPORT DEFICIENCY​
    Steinfeld, R.; Grapp, M. & Gaertner, J. ​ (2012)
    Journal of Inherited Metabolic Disease35 
    Dordrecht​: Springer.
    Details  WoS 
  • 2012 Journal Article
    ​ ​Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin​
    Huppke, P.; Brendel, C.; Kalscheuer, V.; Korenke, G.; Marquardt, I.; Freisinger, P. & Christodoulou, J. et al.​ (2012) 
    The American Journal of Human Genetics90(2) pp. 378​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.01.015 
    Details  DOI 
  • 2012 Conference Abstract
    ​ ​B Cells and Subsets in Pediatric-Onset Relapsing-Remitting Multiple Sclerosis: Similarities and Differences to Adult-Onset Disease​
    Balint, B.; Haas, J.; Schwarz, A.; Fuerwentsches, A.; Ebinger, F.; Fritzsching, B. & Seidel, U. et al.​ (2012)
    Neurology78 , New Orleans, LA.
    Philadelphia​: Lippincott Williams & Wilkins.
    Details  WoS 
  • 2012 Journal Article
    ​ ​Paediatric Patient with Multiple Sclerosis and High Disease Activity​
    Stark, W. & Gaertner, J. ​ (2012) 
    Aktuelle Neurologie39 pp. S10​-S12​.​ DOI: https://doi.org/10.1055/s-0032-1304871 
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  • 2012 Conference Abstract
    ​ ​MUTATIONS IN SLC33A1 CAUSE AN AUTOSOMAL RECESSIVE LETHAL DISORDER WITH CONGENITAL CATARACTS, BILATERAL HEARING LOSS, DEVELOPMENTAL DELAY AND REDUCED COPPER AND CERULOPLASMIN IN SERUM​
    Huppke, P.; Brendel, C.; Kalscheuer, V.; Korenke, C.; Freisinger, P.; Pitelet, G. & Wilson, C. A. et al.​ (2012)
    Journal of Inherited Metabolic Disease35 
    Dordrecht​: Springer.
    Details  WoS 
  • 2012 Journal Article | Research Paper
    ​ ​Anti-Myelin Oligodendrocyte Glycoprotein Antibodies in Pediatric Patients With Optic Neuritis​
    Rostasy, K.; Mader, S.; Schanda, K.; Huppke, P. ; Gärtner, J. ; Kraus, V. & Karenfort, M. et al.​ (2012) 
    Archives of Neurology69(6) pp. 752​-756​.​ DOI: https://doi.org/10.1001/archneurol.2011.2956 
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  • 2012 Journal Article | Research Paper
    ​ ​Identification of a New Fatty Acid Synthesis-Transport Machinery at the Peroxisomal Membrane​
    Hillebrand, M.; Gersting, S. W.; Lotz-Havla, A. S.; Schaefer, A.; Rosewich, H. ; Valerius, O.   & Muntau, A. C. et al.​ (2012) 
    Journal of biological chemistry287(1) pp. 210​-221​.​ DOI: https://doi.org/10.1074/jbc.M111.272732 
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  • 2012 Journal Article | Research Paper
    ​ ​MicroRNA regulation in experimental autoimmune encephalomyelitis in mice and marmosets resembles regulation in human multiple sclerosis lesions​
    Lescher, J.; Paap, F.; Schultz, V. ; Redenbach, L.; Scheidt, U. ; Rosewich, H.   & Nessler, S.  et al.​ (2012) 
    Journal of Neuroimmunology246(1-2) pp. 27​-33​.​ DOI: https://doi.org/10.1016/j.jneuroim.2012.02.012 
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  • 2012 Review
    ​ ​Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders​
    Poll-The, B. T.& Gärtner, J. ​ (2012)
    Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1822​(9) pp. 1421​-1429​.​
    Elsevier Science Bv. DOI: https://doi.org/10.1016/j.bbadis.2012.03.011 
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  • 2012 Journal Article
    ​ ​First PEX11 beta patient extends spectrum of peroxisomal biogenesis disorder phenotypes​
    Thoms, S.   & Gärtner, J. ​ (2012) 
    Journal of Medical Genetics49(5) pp. 314​-316​.​ DOI: https://doi.org/10.1136/jmedgenet-2012-100899 
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  • 2012 Journal Article | Research Paper
    ​ ​Assessment of myelination in hypomyelinating disorders by quantitative MRI​
    Dreha-Kulaczewski, S. F. ; Brockmann, K. ; Henneke, M.; Dechent, P. ; Wilken, B.; Gärtner, J.   & Helms, G.​ (2012) 
    Journal of Magnetic Resonance Imaging36(6) pp. 1329​-1338​.​ DOI: https://doi.org/10.1002/jmri.23774 
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  • 2012 Journal Article | Research Paper | 
    ​ ​Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study​
    Rosewich, H. ; Thiele, H.; Ohlenbusch, A. ; Maschke, U.; Altmüller, J.; Frommolt, P. & Zim, B. et al.​ (2012) 
    The Lancet Neurology11(9) pp. 764​-773​.​ DOI: https://doi.org/10.1016/S1474-4422(12)70182-5 
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  • 2012 Journal Article | Research Paper | 
    ​ ​Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency​
    Ohlenbusch, A. ; Edvardson, S.; Skorpen, J.; Bjornstad, A.; Saada, A.; Elpeleg, O. & Gärtner, J.  et al.​ (2012) 
    Orphanet Journal of Rare Diseases7 art. 69​.​ DOI: https://doi.org/10.1186/1750-1172-7-69 
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  • 2012 Journal Article | Research Paper | 
    ​ ​Structure and activity of the only human RNase T2​
    Thorn, A.; Steinfeld, R. ; Ziegenbein, M.; Grapp, M.; Hsiao, H.-H.; Urlaub, H.   & Sheldrick, G. M.  et al.​ (2012) 
    Nucleic Acids Research40(17) pp. 8733​-8742​.​ DOI: https://doi.org/10.1093/nar/gks614 
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  • 2012 Journal Article | Research Paper
    ​ ​Molecular and Biochemical Characterization of a Unique Mutation in CCS, the Human Copper Chaperone to Superoxide Dismutase​
    Huppke, P. ; Brendel, C.; Korenke, G. C.; Marquardt, I.; Donsante, A.; Yi, L. & Hicks, J. D. et al.​ (2012) 
    Human Mutation33(8) pp. 1207​-1215​.​ DOI: https://doi.org/10.1002/humu.22099 
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  • 2012 Journal Article | Research Paper
    ​ ​Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin​
    Huppke, P. ; Brendel, C.; Kalscheuer, V.; Korenke, G. C.; Marquardt, I.; Freisinger, P. & Christodoulou, J. et al.​ (2012) 
    American journal of human genetics90(1) pp. 61​-68​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.11.030 
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  • 2012 Journal Article | Research Paper
    ​ ​Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency​
    Grapp, M.; Just, I. A.; Linnankivi, T.; Wolf, P.; Luecke, T.; Haeusler, M. & Gärtner, J.  et al.​ (2012) 
    Brain135 pp. 2022​-2031​.​ DOI: https://doi.org/10.1093/brain/aws122 
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  • 2011 Conference Abstract
    ​ ​Alterations of the peripheral B cell compartment in paediatric-onset multiple sclerosis​
    Balint, B.; Haas, J.; Schwarz, A.; Fuerwentsches, A.; Ebinger, F.; Fritzsching, B. & Huppke, P. et al.​ (2011)
    Journal of Neurology258 , Lisbon, PORTUGAL.
    Heidelberg​: Springer.
    Details  WoS 
  • 2011 Conference Abstract
    ​ ​THE EXTENDED CLINICAL SPECTRUM OF CEREBRAL FOLATE TRANSPORT DEFICIENCY​
    Steinfeld, R.; Grapp, M.; Kraetzner, R. & Gärtner, J. ​ (2011)
    Journal of Inherited Metabolic Disease34 
    Dordrecht​: Springer.
    Details  WoS 
  • 2011 Journal Article
    ​ ​Entwicklungsverzögerung im Säuglingsalter durch alimentären Vitamin B12-Mangel.​
    Müller-Wielsch, K.; Huppke, P.   & Gärtner, J. ​ (2011) 
    Neuropädiatrie in Klinik und Praxis10(3) pp. 89​-91​.​
    Details 
  • 2011 Journal Article
    ​ ​Multiple Sklerose bei Kindern​
    Stark, W.   & Gärtner, J. ​ (2011) 
    Pädiatrie Hautnah23 pp. 31​-37​.​
    Details 
  • 2011 Journal Article | Research Paper
    ​ ​Peroxisome Formation Requires the Endoplasmic Reticulum Channel Protein Sec61​
    Thoms, S. ; Harms, I.; Kalies, K.-U. & Gärtner, J. ​ (2011) 
    Traffic13(4) pp. 599​-609​.​ DOI: https://doi.org/10.1111/j.1600-0854.2011.01324.x 
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  • 2011 Journal Article
    ​ ​Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders​
    Grønborg, S.; Krätzner, R. ; Rosewich, H.   & Gärtner, J. ​ (2011) 
    JIMD reports1 pp. 29​-36​.​ DOI: https://doi.org/10.1007/8904_2011_12 
    Details  DOI  PMID  PMC 
  • 2011 Journal Article | Research Paper | 
    ​ ​Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model​
    Brendel, C.; Belakhov, V.; Werner, H. B. ; Wegener, E.; Gärtner, J. ; Nudelman, I. & Baasov, T. et al.​ (2011) 
    Journal of Molecular Medicine89(4) pp. 389​-398​.​ DOI: https://doi.org/10.1007/s00109-010-0704-4 
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  • 2011 Journal Article | Research Paper
    ​ ​The unusual extended C-terminal helix of the peroxisomal alpha/beta-hydrolase Lpx1 is involved in dimer contacts but dispensable for dimerization​
    Thoms, S. ; Hofhuis, J. ; Thoeing, C.; Gärtner, J.   & Niemann, H. H.​ (2011) 
    Journal of Structural Biology175(3) pp. 362​-371​.​ DOI: https://doi.org/10.1016/j.jsb.2011.06.008 
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  • 2011 Journal Article | Research Paper
    ​ ​rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA​
    Haud, N.; Kara, F.; Diekmann, S.; Henneke, M.; Willer, J. R.; Hillwig, M. S. & Gregg, R. G. et al.​ (2011) 
    Proceedings of the National Academy of Sciences108(3) pp. 1099​-1103​.​ DOI: https://doi.org/10.1073/pnas.1009811107 
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  • 2011 Journal Article | Research Paper | 
    ​ ​SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency​
    Schlotawa, L.; Ennemann, E. C.; Radhakrishnan, K.; Schmidt, B. ; Chakrapani, A.; Christen, H.-J. & Moser, H. et al.​ (2011) 
    European Journal of Human Genetics19(3) pp. 253​-261​.​ DOI: https://doi.org/10.1038/ejhg.2010.219 
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  • 2011 Journal Article | Research Paper | 
    ​ ​Intrathecal IgM synthesis in pediatric MS is not a negative prognostic marker of disease progression: quantitative versus qualitative IgM analysis​
    Stauch, C.; Reiber, H. ; Rauchenzauner, M.; Strasak, A.; Pohl, D.; Hanefeld, F. A. & Gärtner, J.  et al.​ (2011) 
    Multiple Sclerosis17(3) pp. 327​-334​.​ DOI: https://doi.org/10.1177/1352458510388543 
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  • 2011 Journal Article | Research Paper | 
    ​ ​Characterization of two common 5 ' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients​
    Thoms, S. ; Gronborg, S.; Rabenau, J.; Ohlenbusch, A. ; Rosewich, H.   & Gärtner, J. ​ (2011) 
    BMC Medical Genetics12 art. 109​.​ DOI: https://doi.org/10.1186/1471-2350-12-109 
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  • 2011 Journal Article | Research Paper
    ​ ​Antibodies to MOG are transient in childhood acute disseminated encephalomyelitis​
    Pröbstel, A. K.; Dornmair, K.; Bittner, R.; Sperl, P.; Jenne, D.; Magalhaes, S. & Villalobos, A. et al.​ (2011) 
    Neurology77(6) pp. 580​-588​.​ DOI: https://doi.org/10.1212/WNL.0b013e318228c0b1 
    Details  DOI  PMID  PMC  WoS 
  • 2010 Conference Abstract
    ​ ​RNASET2 deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection​
    Henneke, M. & Gärtner, J. ​ (2010)
    European Journal of Pediatrics169(3) 
    New york​: Springer.
    Details  WoS 
  • 2010 Conference Abstract
    ​ ​STRUCTURE OF TRIPEPTIDYL-PEPTIDASE I (TPP1) PROVIDES INSIGHT INTO THE MOLECULAR BASIS OF LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS​
    Kraetzner, R.; Pal, A.; Grune, T.; Grapp, M.; Schreiber, K.; Gaertner, J.   & Sheldrick, G. M. et al.​ (2010)
    Journal of Inherited Metabolic Disease33 
    Dordrecht​: Springer.
    Details  WoS 
  • 2010 Conference Abstract
    ​ ​STAR syndrome and nephroblastoma-FAM58A linking organogenesis and tumorigenesis?​
    Rakenius, A.; Zappel, H.; Borozdin, W.; Craig, A.; Gaertner, J.   & Kohlhase, J.​ (2010)
    European Journal of Pediatrics169(3) 
    New york​: Springer.
    Details  WoS 
  • 2010 Conference Abstract
    ​ ​FUNCTIONAL CHARACTERIZATION OF TWO NOVEL SUMF1 MUTATIONS LEADING TO A MILD PHENOTYPE IN MULTIPLE SULFATASE DEFICIENCY​
    Schlotawa, L.; Radhakrishnan, K.; Schmid, R.; Schmidt, B. ; Dierks, T.; Gaertner, J.   & Baumgartner, M.​ (2010)
    Journal of Inherited Metabolic Disease33 
    Dordrecht​: Springer.
    Details  WoS 
  • 2010 Conference Abstract
    ​ ​CEREBRAL FOLATE TRANSPORT DEFICIENCY: A NOVEL INHERITED DISORDER OF FOLATE METABOLISM​
    Steinfeld, R.; Grapp, M.; Kraetzner, R.; Dreha-Kulaczewski, S. F.; Wevers, R. A. & Gaertner, J. ​ (2010)
    Journal of Inherited Metabolic Disease33 
    Dordrecht​: Springer.
    Details  WoS 
  • 2010 Conference Abstract
    ​ ​RNASET2-DEFICIENT CYSTIC LEUKOENCEPHALOPATHY IS A NEW LYSOSOMAL DISORDER​
    Henneke, M.; Diekmann, S.; Haud, N.; Alia, A.; Hurlstone, A. & Gaertner, J. ​ (2010)
    Journal of Inherited Metabolic Disease33 
    Dordrecht​: Springer.
    Details  WoS 
  • 2010 Journal Article
    ​ ​A Practical Guide to Pediatric Multiple Sclerosis​
    Huppke, P. & Gärtner, J. ​ (2010) 
    Neuropediatrics41(04) pp. 157​-162​.​ DOI: https://doi.org/10.1055/s-0030-1267155 
    Details  DOI 
  • 2010 Journal Article | 
    ​ ​Neuromyelitis optica and NMO-IgG in European pediatric patients​
    Huppke, P.; Blüthner, R. M.; Bauer, O.; Stark, W.; Reinhardt, K.; Huppke, B. & Gärtner, J. ​ (2010) 
    Neurology,(75) pp. 1740​-1744​.​
    Details 
  • 2010 Review
    ​ ​Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults​
    Kohlschuetter, A.; Bley, A.; Brockmann, K. ; Gärtner, J. ; Kraegeloh-Mann, I.; Rolfs, A.& Schoels, L.​ (2010)
    Brain and Development, 32​(2) pp. 82​-89​.​
    Elsevier Science Bv. DOI: https://doi.org/10.1016/j.braindev.2009.03.014 
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  • 2010 Journal Article | Research Paper
    ​ ​Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease​
    Henneke, M.; Gegner, S.; Hahn, A.; Plecko-Startinig, B.; Weschke, B.; Gärtner, J.   & Brockmann, K.​ (2010) 
    Neurology74(22) pp. 1785​-1789​.​ DOI: https://doi.org/10.1212/WNL.0b013e3181e0f820 
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  • 2010 Journal Article | Research Paper | 
    ​ ​Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction​
    Diekmann, S.; Henneke, M.; Burckhardt, B. C.   & Gärtner, J. ​ (2010) 
    European Journal of Human Genetics18(9) pp. 985​-992​.​ DOI: https://doi.org/10.1038/ejhg.2010.61 
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  • 2010 Journal Article | Research Paper
    ​ ​In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency​
    Henneke, M.; Dreha-Kulaczewski, S. F. ; Brockmann, K. ; van der Graaf, M.; Willemsen, M. A.; Engelke, U. & Dechent, P.  et al.​ (2010) 
    NMR in Biomedicine23(5) pp. 441​-445​.​ DOI: https://doi.org/10.1002/nbm.1480 
    Details  DOI  PMID  PMC  WoS 
  • 2010 Journal Article | Research Paper
    ​ ​Polymicrogyria in Fetal Alcohol Syndrome​
    Reinhardt, K.; Mohr, A. ; Gärtner, J. ; Spohr, H.-L. & Brockmann, K. ​ (2010) 
    Birth Defects Research Part A: Clinical and Molecular Teratology88(2) pp. 128​-131​.​ DOI: https://doi.org/10.1002/bdra.20629 
    Details  DOI  PMID  PMC  WoS 
  • 2010 Journal Article | Research Paper
    ​ ​Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis​
    Reinhardt, K.; Grapp, M.; Schlachter, K.; Brueck, W. ; Gärtner, J.   & Steinfeld, R. ​ (2010) 
    Clinical Genetics77(1) pp. 79​-85​.​ DOI: https://doi.org/10.1111/j.1399-0004.2009.01285.x 
    Details  DOI  PMID  PMC  WoS 
  • 2010 Journal Article | Research Paper
    ​ ​Typical cMRI Pattern as Diagnostic Clue for D-Bifunctional Protein Deficiency Without Apparent Biochemical Abnormalities in Plasma​
    Gronborg, S.; Kraetzner, R. ; Spiegler, J.; Ferdinandusse, S.; Wanders, R. J. A.; Waterham, H. R. & Gärtner, J. ​ (2010) 
    American Journal of Medical Genetics152A(11) pp. 2845​-2849​.​ DOI: https://doi.org/10.1002/ajmg.a.33677 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Letter Note
    ​ ​Multiple sclerosis in childhood and youth​
    Gärtner, J. ; Brueck, W. & Grote, V.​ (2009) 
    Monatsschrift Kinderheilkunde157(7).​
    Details  WoS 
  • 2009 Journal Article
    ​ ​Pediatric multiple sclerosis (encephalomyelitis disseminata)​
    Stark, W. & Gaertner, J. ​ (2009) 
    Monatsschrift Kinderheilkunde157(1) pp. 67​-77​.​ DOI: https://doi.org/10.1007/s00112-008-1915-4 
    Details  DOI  WoS 
  • 2009 Conference Abstract
    ​ ​Defective membrane tubulation in dysferlin-deficient muscular dystrophy​
    Klinge, L. ; Thoms, S. ; Cierny, I.; Straub, V.; Bushby, K. & Gärtner, J. ​ (2009)
    European Journal of Pediatrics168(3) 
    New york​: Springer.
    Details  WoS 
  • 2009 Conference Abstract
    ​ ​The structure of tripeptidyl peptidase I (TPP1) provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis​
    Steinfeld, R.; Pal, A.; Gruene, T.; Kraetzner, R.; Gärtner, J.   & Sheldrick, G. M.​ (2009)
    European Journal of Pediatrics168(3) pp. 379​-380. 
    New york​: Springer.
    Details  WoS 
  • 2009 Conference Abstract
    ​ ​Steps towards a German register in childhood multiple sclerosis​
    Neuhaus, A.; Dreha-Kulaczewski, S. F.; Strobl, R.; Merkle, K.; Stark, W.; Sailer, M. & Brueck, W. et al.​ (2009)
    MULTIPLE SCLEROSIS15(9) pp. S163​-S164. ​25th Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis​, Dusseldorf, GERMANY.
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2009 Journal Article
    ​ ​Therapy with Interferon beta-1b of a Patient with Childhood Multiple Sclerosis​
    Huppke, P. & Gaertner, J. ​ (2009) 
    Aktuelle Neurologie36 pp. S271​-S273​.​ DOI: https://doi.org/10.1055/s-0029-1220418 
    Details  DOI  WoS 
  • 2009 Journal Article | 
    ​ ​Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis (vol 51, pg 113, 2009)​
    Dreha-Kulaczewski, S. F. ; Gaertner, J. ; Helms, G.; Dechent, P. ; Hofer, S.   & Frahm, J. ​ (2009) 
    Neuroradiology51(10).​ DOI: https://doi.org/10.1007/s00234-009-0582-z 
    Details  DOI  WoS 
  • 2009 Journal Article | 
    ​ ​Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism​
    Steinfeld, R.; Grapp, M.; Kraetzner, R.; Dreha-Kulaczewski, S.; Helms, G.; Dechent, P. & Wevers, R. et al.​ (2009) 
    The American Journal of Human Genetics85 pp. 354​-363​.​ DOI: https://doi.org/10.1016/j.ajhg.2009.08.005. 
    Details  DOI 
  • 2009 Journal Article | Research Paper | 
    ​ ​RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection​
    Henneke, M.; Diekmann, S.; Ohlenbusch, A. ; Kaiser, J.; Engelbrecht, V.; Kohlschuetter, A. & Kraetzner, R.  et al.​ (2009) 
    Nature Genetics41(7) pp. 773​-775​.​ DOI: https://doi.org/10.1038/ng.398 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Review | 
    ​ ​Organelle interplay in peroxisomal disorders​
    Thoms, S. ; Gronborg, S.& Gärtner, J. ​ (2009)
    Trends in Molecular Medicine, 15​(7) pp. 293​-302​.​
    Elsevier Sci Ltd. DOI: https://doi.org/10.1016/j.molmed.2009.05.002 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Research Paper | 
    ​ ​Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis​
    Dreha-Kulaczewski, S. F. ; Helms, G.; Dechent, P. ; Hofer, S. ; Gärtner, J.   & Frahm, J. ​ (2009) 
    Neuroradiology51(2) pp. 113​-121​.​ DOI: https://doi.org/10.1007/s00234-008-0470-y 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Research Paper
    ​ ​Suppression of Nonsense Mutations in Rett Syndrome by Aminoglycoside Antibiotics​
    Brendel, C.; Klahold, E.; Gärtner, J.   & Huppke, P. ​ (2009) 
    Pediatric Research65(5) pp. 520​-523​.​ DOI: https://doi.org/10.1203/pdr.0b013e31819d9ebc 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Research Paper
    ​ ​Immunoglobulin Therapy in Idiopathic Hypothalamic Dysfunction​
    Huppke, P. ; Heise, A.; Rostasy, K.; Huppke, B.   & Gärtner, J. ​ (2009) 
    Pediatric Neurology41(3) pp. 232​-234​.​ DOI: https://doi.org/10.1016/j.pediatrneurol.2009.03.017 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Letter Note
    ​ ​A Novel Mutation of the Arylsulfatase A Gene in Late-Onset Metachromatic Leukodystrophy​
    Schneider, A. ; Hasan, A.; Hirschel, S.; Wilhelm, C.; Kohlhase, J.; Falkai, P.   & Gaertner, J.  et al.​ (2009) 
    The Journal of Clinical Psychiatry70(12) pp. 1724​-1725​.​ DOI: https://doi.org/10.4088/JCP.09l05010 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Research Paper
    ​ ​Unilateral Dilation of Virchow-Robin Spaces in Early Childhood​
    Brockmann, K. ; Groeschel, S.; Dreha-Kulaczewski, S. F. ; Reinhardt, K.; Gärtner, J.   & Dechent, P. ​ (2009) 
    Neuropediatrics40(5) pp. 234​-238​.​ DOI: https://doi.org/10.1055/s-0029-1246158 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Research Paper
    ​ ​Structure of Tripeptidyl-peptidase I Provides Insight into the Molecular Basis of Late Infantile Neuronal Ceroid Lipofuscinosis​
    Pal, A.; Kraetzner, R. ; Gruene, T.; Grapp, M.; Schreiber, K.; Gronborg, M. & Urlaub, H.  et al.​ (2009) 
    Journal of biological chemistry284(6) pp. 3976​-3984​.​ DOI: https://doi.org/10.1074/jbc.M806947200 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Research Paper | 
    ​ ​Rational diagnostic strategy for Zellweger syndrome spectrum patients​
    Krause, C. ; Rosewich, H.   & Gärtner, J. ​ (2009) 
    European Journal of Human Genetics17(6) pp. 741​-748​.​ DOI: https://doi.org/10.1038/ejhg.2008.252 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Conference Abstract
    ​ ​Disease severity in multiple suleatase deficiency is determined by stability and residual activity of mutant formyl-glycine-generating enzyme​
    Schlotawa, L.; Dierks, T.; Schmidt, B. & Gaertner, J. ​ (2008)
    Journal of Inherited Metabolic Disease31 
    Dordrecht​: Springer.
    Details  WoS 
  • 2008 Conference Abstract
    ​ ​HSCT in childhood-onset cerebral X-linked adrenoleukodystrophy: the updated Berlin experience​
    Kuehl, J.-S.; Strauss, G.; Weschke, B.; Koehler, W.; Hunneman, D. H.; Weddige, A. & Steinfeld, R. et al.​ (2008)
    Bone Marrow Transplantation41 pp. S28​-S29. ​34th Annual Meeting of the European-Group-for-Blood-and-Marrow-Transplantation/24nd Meeting of the EBMT-Nurses-Group/7th Meeting of the EBMT-Data-Management-Group​, Florence, ITALY.
    London​: Nature Publishing Group.
    Details  WoS 
  • 2008 Conference Abstract
    ​ ​Hematopoietic stem cell transplantation in neurometabolic disorders (NMD): The Berlin experience​
    Kuehl, J.-S.; Strauss, G.; Weschke, B.; Nagy, M.; Hennermann, J. B.; Weddige, A. & Steinfeld, R. et al.​ (2008)
    Bone Marrow Transplantation42 ​6th Meeting of the EBMT Paediatric Diseases Working Party/1st Meeting of the EBMT Paediatric Nurses​, Poznan, POLAND.
    London​: Nature Publishing Group.
    Details  WoS 
  • 2008 Journal Article | 
    ​ ​GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease​
    Henneke, M.; Combes, P.; Diekmann, S.; Bertini, E.; Brockmann, K.; Burlina, A. P. & Kaiser, J. et al.​ (2008) 
    Neurology,(70) pp. 758​-754​.​
    Details 
  • 2008 Journal Article | 
    ​ ​Severe herpes simplex virus encephalitis in a pediatric patient – the role of immunological mechanisms in diagnosis and treatment​
    Kreth, J. H.; Steinfeld, R.; Lorenzo, L.; Zhang, S.-Y.; Casanova, J.-L. & Gärtner, J. ​ (2008) 
    BMC Proceedings2(Suppl 1) art. P34​.​ DOI: https://doi.org/10.1186/1753-6561-2-s1-p34 
    Details  DOI 
  • 2008 Journal Article | Research Paper | 
    ​ ​Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe​
    Koehler, K.; Brockmann, K. ; Krumbholz, M.; Kind, B.; Boennemann, C.; Gärtner, J.   & Huebner, A.​ (2008) 
    European Journal of Human Genetics16(12) pp. 1499​-1506​.​ DOI: https://doi.org/10.1038/ejhg.2008.132 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper
    ​ ​Paediatric multiple sclerosis: The experience of the German Centre for Multiple Sclerosis in Childhood and Adolescence​
    Stark, W. ; Huppke, P.   & Gärtner, J. ​ (2008) 
    Journal of Neurology255 pp. 119​-122​.​ DOI: https://doi.org/10.1007/s00415-008-6022-x 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper
    ​ ​CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine​
    Stam, A. H.; Vanmolkot, K. R. J.; Kremer, H. P. H.; Gärtner, J. ; Brown, J.; Leshinsky-Silver, E. & Gilad, R. et al.​ (2008) 
    Clinical Genetics74(5) pp. 481​-485​.​ DOI: https://doi.org/10.1111/j.1399-0004.2008.00996.x 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper
    ​ ​Spontaneous central apneas occur in the C57BL/6J mouse strain​
    Stettner, G. M.; Zanella, S.; Huppke, P. ; Gärtner, J. ; Hilaire, G. & Dutschmann, M. ​ (2008) 
    Respiratory Physiology & Neurobiology160(1) pp. 21​-27​.​ DOI: https://doi.org/10.1016/j.resp.2007.07.011 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper
    ​ ​Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study​
    Dreha-Kulaczewski, S. F. ; Dechent, P. ; Finsterbusch, J.; Brockmann, K. ; Gärtner, J. ; Frahm, J.   & Hanefeld, F. A.​ (2008) 
    Pediatric Research63(4) pp. 444​-449​.​ DOI: https://doi.org/10.1203/01.pdr.0000304934.90198.25 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper | 
    ​ ​Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations​
    Brockmann, K. ; Dreha-Kulaczewski, S. F. ; Dechent, P. ; Boennemann, C.; Helms, G.; Kyllerman, M. & Brueck, W.  et al.​ (2008) 
    Journal of Neurology255(7) pp. 1049​-1058​.​ DOI: https://doi.org/10.1007/s00415-008-0847-1 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Conference Paper | Research Paper
    ​ ​Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients​
    Weller, S.; Rosewich, H.   & Gärtner, J. ​ (2008)
    ​Journal of Inherited Metabolic Disease (2) pp. 270​-280. (Vol. 31). ​44th Annual Symposium of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism​, Hamburg, GERMANY.
    Dordrecht​: Springer. DOI: https://doi.org/10.1007/s10545-008-0856-3 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper
    ​ ​Natalizumab Use in Pediatric Multiple Sclerosis​
    Huppke, P. ; Stark, W. ; Zuercher, C.; Huppke, B. ; Brueck, W.   & Gärtner, J. ​ (2008) 
    Archives of Neurology65(12) pp. 1655​-1658​.​ DOI: https://doi.org/10.1001/archneur.65.12.1655 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper | 
    ​ ​Common infectious agents in multiple sclerosis: a case-control study in children​
    Krone, B.; Pohl, D.; Rostasy, K.; Kahler, E.; Brunner, E. ; Oeffner, F. & Grange, J. M. et al.​ (2008) 
    Multiple Sclerosis14(1) pp. 136​-139​.​ DOI: https://doi.org/10.1177/1352458507082069 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article
    ​ ​Broadened and elevated humoral immune response to EBNA1 in pediatric multiple sclerosis​
    Luenemann, J. D.; Huppke, P. ; Robert, S.; Brueck, W. ; Gärtner, J.   & Münz, C.​ (2008) 
    Neurology71(13) pp. 1033​-1035​.​ DOI: https://doi.org/10.1212/01.wnl.0000326576.91097.87 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Conference Paper | Research Paper
    ​ ​Disturbances of breathing in Rett syndrome: Results from patients and animal models​
    Stettner, G. M.; Huppke, P. ; Gärtner, J. ; Richter, D. W. & Dutschmann, M. ​ (2008)
    In:Poulin, Marc J.; Wilson, Richard J. A.​ (Eds.), ​Integration in respiratory control: from genes to systems pp. 503​-507. ​10th Oxford Conference on Modeling and Control of Breathing​, Lake Louise, Canada.
    New York​: Springer. DOI: https://doi.org/10.1007/978-0-387-73693-8_88 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Conference Abstract
    ​ ​Clinical, morphological, biochemical and genetic variability in pure mitochondrial myopathies of childhood onset​
    Wilichowski, E.; Hobbiebrunken, E.; Schulz-Schaeffer, W. J.; Gempel, K.; Sperl, W.; Goebel, H. & Hanefeld, F. et al.​ (2007)
    Neuromuscular Disorders17(9-10) ​12th International Congress of the World-Muscle-Society​, Giardini Naxos, ITALY.
    Oxford​: Pergamon-elsevier Science Ltd. DOI: https://doi.org/10.1016/j.nmd.2007.06.223 
    Details  DOI  WoS 
  • 2007 Conference Abstract
    ​ ​The CLN10 subtype of neuronal ceroid lipofuscinosis is caused by mutations in the CTSD gene and is associated with a variable age of onset​
    Steinfeld, R.; Mole, S. E.; Niezen-de Boer, R. & Gaertner, J. ​ (2007)
    Journal of Inherited Metabolic Disease30 
    Dordrecht​: Springer.
    Details  WoS 
  • 2007 Conference Abstract
    ​ ​Molecular and clinical characterization of multiple suleatase deficiency causing mutations in the formylglycine-generating enzyme​
    Schlotawa, L.; Steinfeld, R.; von Figura, K.; Dierks, T. & Gaertner, J. ​ (2007)
    Journal of Inherited Metabolic Disease30 
    Dordrecht​: Springer.
    Details  WoS 
  • 2007 Conference Abstract
    ​ ​Complete recovery of NAA reduction in white matter disorders demonstrated by proton MRS​
    Dreha-Kulaczewski, S. F. ; Dechent, P. ; Helms, G.; Frahm, J. ; Gärtner, J.   & Brockmann, K. ​ (2007)
    ​European Journal of Pediatrics, 166(3) pp. 274​-274. , Max-Planck-Institute for Experimental Medicine, Göttingen.
    New York​: Springer.
    Details  WoS 
  • 2007 Journal Article
    ​ ​DO06 Complete recovery of NAA reduction in white matter disorders demonstrated by serial proton MRS​
    Dreha-Kulaczewski, S. ; Dechent, P. ; Helms, G.; Frahm, J. ; Gaertner, J.   & Brockmann, K. ​ (2007) 
    European Journal of Paediatric Neurology11 pp. 39​-39​.​ DOI: https://doi.org/10.1016/s1090-3798(08)70391-x 
    Details  DOI 
  • 2007 Conference Abstract
    ​ ​Influence of gene polymorphisms on MS susceptibility and clinical presentation in childhood multiple sclerosis patients​
    Stark, W.; van Rossum, D.; Rosenberger, A. ; Bickeboeller, H. ; Brueck, W. & Gaertner, J. ​ (2007)
    MULTIPLE SCLEROSIS13 ​23rd Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis/12th Annual Conference of Rehabilitation in MS​, Prague, CZECH REPUBLIC.
    London​: Sage Publications Ltd.
    Details  WoS 
  • 2007 Journal Article | Research Paper
    ​ ​Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2(-/y) knockout mice​
    Stettner, G. M.; Huppke, P. ; Brendel, C.; Richter, D. W.; Gärtner, J.   & Dutschmann, M. ​ (2007) 
    The Journal of Physiology579(3) pp. 863​-876​.​ DOI: https://doi.org/10.1113/jphysiol.2006.119966 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Journal Article | Research Paper
    ​ ​Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy​
    Schoenberger, S.; Roerig, P.; Schneider, D. T.; Reifenberger, G. & Gärtner, J. ​ (2007) 
    Archives of Neurology64(5) pp. 651​-657​.​ DOI: https://doi.org/10.1001/archneur.64.5.noc60105 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Journal Article | Research Paper
    ​ ​Infratentorial meningioma in an 8-year-old child as first sign of neurofibromatosis type 2​
    Stettner, G. M.; Rostasy, K. M.; Ludwig, H. C. ; Merkler, D. ; Fahsold, R. & Gärtner, J. ​ (2007) 
    Neuropediatrics38(1) pp. 29​-31​.​ DOI: https://doi.org/10.1055/s-2007-980204 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Journal Article
    ​ ​Acute onset of fatal vegetative symptoms: Unusual presentation of adult Alexander disease​
    Huttner, H. B.; Richter, G.; Hildebrandt, M.; Bluemcke, I.; Fritscher, T.; Brueck, W.   & Gärtner, J.  et al.​ (2007) 
    European Journal of Neurology14(11) pp. 1251​-1255​.​ DOI: https://doi.org/10.1111/j.1468-1331.2007.01961.x 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Journal Article
    ​ ​Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)​
    Koop, O.; Schirmacher, A.; Nelis, E.; Timmerman, V.; De Jonghe, P.; Ringelstein, B. & Rasic, V. M. et al.​ (2007) 
    Neuromuscular Disorders17(8) pp. 624​-630​.​ DOI: https://doi.org/10.1016/j.nmd.2007.03.012 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Journal Article | Research Paper
    ​ ​Leukodystrophies: diseases of white matter of the nervous system​
    Gärtner, J. ; Kohlschuetter, A. & Gieselmann, V.​ (2007) 
    Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz50(12) pp. 1531​-1540​.​ DOI: https://doi.org/10.1007/s00103-007-0388-2 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Journal Article | Research Paper
    ​ ​Live cell FRET microscopy - Homo-and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3)​
    Hillebrand, M.; Verrier, S. E.; Ohlenbusch, A. ; Schaefer, A.; Soeling, H.-D.; Wouters, F. S.   & Gärtner, J. ​ (2007) 
    Journal of biological chemistry282(37) pp. 26997​-27005​.​ DOI: https://doi.org/10.1074/jbc.M702122200 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Journal Article | Research Paper
    ​ ​Treatment of epilepsy in Rett syndrome​
    Huppke, P. ; Koehler, K.; Brockmann, K. ; Stettner, G. M. & Gärtner, J. ​ (2007) 
    European Journal of Paediatric Neurology11(1) pp. 10​-16​.​ DOI: https://doi.org/10.1016/j.ejpn.2006.09.003 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Conference Abstract
    ​ ​Cathepsin D deficient neuronal ceroid lipofuscinosis: A novel neurodegenerative disease of childhood​
    Steinfeld, R.; Reinhardt, K.; Schreiber, K.; Hillebrand, M. & Gärtner, J. ​ (2006)
    Journal of Inherited Metabolic Disease29 
    Dordrecht​: Springer.
    Details  WoS 
  • 2006 Conference Abstract
    ​ ​Clinical spectrum of CACNA1A mutation hot spot​
    Stam, A. H.; Vanmolkot, K. R. J.; Kors, E. E.; Kremer, H. P. H.; Gaertner, J. ; Brown, J. & Leshinsky-Silver, E. et al.​ (2006)
    Cephalalgia26(11) pp. 1364​-1365. , London, ENGLAND.
    Oxford​: Blackwell Publishing.
    Details  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI​
    Dreha-Kulaczewski, S. F. ; Dechent, P. ; Helms, G.; Frahm, J. ; Gärtner, J.   & Brockmann, K. ​ (2006) 
    Neuroradiology48(12) pp. 893​-898​.​ DOI: https://doi.org/10.1007/s00234-006-0148-2 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article
    ​ ​High dose pulsatile dexamethasone therapy in children with opsoclonus-myoclonus syndrome​
    Rostasy, K.; Wilken, B.; Baumann, M. A.; Mueller-Deile, K.; Bieber, I.; Gärtner, J.   & Möller, P. et al.​ (2006) 
    Neuropediatrics37(5) pp. 291​-295​.​ DOI: https://doi.org/10.1055/s-2006-955931 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy​
    Linnebank, M.; Kemp, S.; Wanders, R. J. A.; Kleijer, W. J.; van der Sterre, M. L. T.; Gärtner, J.   & Fliessbach, K. et al.​ (2006) 
    Neurology66(3) pp. 442​-443​.​ DOI: https://doi.org/10.1212/01.wnl.0000196491.42058.6f 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates​
    Steinfeld, R. ; Fuhrmann, J. C. & Gärtner, J. ​ (2006) 
    Journal of Histochemistry and Cytochemistry54(9) pp. 991​-996​.​ DOI: https://doi.org/10.1369/jhc.5A6900.2006 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Clinical and biochemical spectrum of D-bifunctional protein deficiency​
    Ferdinandusse, S.; Denis, S.; Mooyer, P. A. W.; Dekker, C.; Duran, R.; Soorani-Lunsing, R. J . & Boltshauser, E. et al.​ (2006) 
    Annals of Neurology59(1) pp. 92​-104​.​ DOI: https://doi.org/10.1002/ana.20702 
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  • 2006 Journal Article | Research Paper
    ​ ​Rapidly progressive vanishing white matter disease in a child with previously inconspicuous brain MRI​
    Ding, X. -Q.; Goerg, M.; Eckert, B.; Ohlenbusch, A. ; Kohlschuetter, A.; Gärtner, J.   & Zeumer, H.​ (2006) 
    Neuropediatrics37(4) pp. 253​-256​.​ DOI: https://doi.org/10.1055/s-2006-924576 
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  • 2006 Journal Article | Research Paper
    ​ ​Very mild cases of Rett syndrome with skewed X inactivation​
    Huppke, P. ; Maier, E. M.; Warnke, A.; Brendel, C.; Laccone, F.   & Gärtner, J. ​ (2006) 
    Journal of Medical Genetics43(10) pp. 814​-816​.​ DOI: https://doi.org/10.1136/jmg.2006.042077 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Cathepsin D deficiency is associated with a human neurodegenerative disorder​
    Steinfeld, R. ; Reinhardt, K.; Schreiber, K.; Hillebrand, M.; Kraetzner, R. ; Brück, W.   & Saftig, P.  et al.​ (2006) 
    American journal of human genetics78(6) pp. 988​-998​.​ DOI: https://doi.org/10.1086/504159 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect​
    Rosewich, H. ; Waterham, H. R.; Wanders, R. J. A.; Ferdinandusse, S.; Henneke, M.; Hunneman, D. H.   & Gärtner, J. ​ (2006) 
    Neuropediatrics37(2) pp. 95​-98​.​ DOI: https://doi.org/10.1055/s-2006-923943 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Review
    ​ ​X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects​
    Berger, J.& Gärtner, J. ​ (2006)
    Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 1763​(12) pp. 1721​-1732​.​
    Elsevier Science Bv. DOI: https://doi.org/10.1016/j.bbamcr.2006.07.010 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Plasma exchange therapy for steroid-unresponsive multiple sclerosis relapses. Clinical experience with 16 patients​
    Schilling, S.; Linker, R. A. ; König, F. B. ; Koziolek, M. ; Bähr, M. ; Müller, G. A.   & Paulus, W.  et al.​ (2006) 
    Der Nervenarzt77(4) pp. 430​-438​.​ DOI: https://doi.org/10.1007/s00115-005-2019-1 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Pediatric multiple sclerosis: Detection of clinically silent lesions by multimodal evoked potentials​
    Pohl, D.; Rostasy, K.; Treiber-Held, S.; Brockmann, K. ; Gärtner, J.   & Hanefeld, F. A.​ (2006) 
    The Journal of Pediatrics149(1) pp. 125​-127​.​ DOI: https://doi.org/10.1016/j.jpeds.2006.01.003 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​High seroprevalence of Epstein-Barr virus in children with multiple sclerosis​
    Pohl, D.; Krone, B.; Rostasy, K.; Kahler, E.; Brunner, E. ; Lehnert, M. & Wagner, H. -J. et al.​ (2006) 
    Neurology67(11) pp. 2063​-2065​.​ DOI: https://doi.org/10.1212/01.wnl.0000247665.94088.8d 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Conference Abstract
    ​ ​MOLECULAR MECHANISM OF DISTINCT CLN2 MUTATIONS IN LATE INFANTILE CEROID LIPOFUSCINOSIS​
    Steinfeld, R.; Isbrandt, D. & Gaertner, J. ​ (2005)
    Journal of Inherited Metabolic Disease28 
    Dordrecht​: Springer.
    Details  WoS 
  • 2005 Conference Abstract
    ​ ​X-linked adrenoleukodystrophy - effects of haematopoietic stem cell transplantation on genotype and protein expression in different brain regions and extraneural tissues​
    Schonberger, S.; Roerig, P.; Schneider, D. T.; Gobel, U. & Gärtner, J. ​ (2005)
    Bone Marrow Transplantation35 ​31st Annual Meeting of the European-Group-for-Blood-and-Marrow-Transplantation/21st Meeting of the EBMT-Nurses-Group/4th Meeting of the EBMT-Data-Management-Group​, Prague, CZECH REPUBLIC.
    London​: Nature Publishing Group.
    Details  WoS 
  • 2005 Journal Article
    ​ ​Molecular Diagnosis of Rett Syndrome​
    Huppke, P.   & Gärtner, J. ​ (2005) 
    Journal of Child Neurology20(9) pp. 732​-736​.​ DOI: https://doi.org/10.1177/08830738050200090601 
    Details  DOI 
  • 2005 Conference Abstract
    ​ ​Intracellular measurement of tripeptidyl peptidase I activity with a fluorogenic substrate​
    Steinfeld, R.; Fuhrmann, J. & Gärtner, J. ​ (2005)
    FEBS Journal272 , Budapest, HUNGARY.
    Malden​: Wiley-blackwell Publishing, Inc.
    Details  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis​
    Jerkic, S.; Rosewich, H. ; Scharf, J. G.; Perske, C. ; Fuzesi, L.; Wilichowski, E.   & Gärtner, J. ​ (2005) 
    European Journal of Pediatrics164(5) pp. 306​-310​.​ DOI: https://doi.org/10.1007/s00431-004-1602-y 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Cystic leukoencephalopathy without megalencephaly: A distinct disease entity in 15 children​
    Henneke, M.; Preuss, N.; Engelbrecht, V.; Aksu, F.; Bertini, E.; Bibat, G. & Brockmann, K. et al.​ (2005) 
    Neurology64(8) pp. 1411​-1416​.​ DOI: https://doi.org/10.1212/01.WNL.0000158472.82823.01 
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  • 2005 Journal Article | Research Paper
    ​ ​Treatment of early onset multiple sclerosis with subcutaneous interferon beta-1a​
    Pohl, D.; Rostasy, K.; Gärtner, J.   & Hanefeld, F.​ (2005) 
    Neurology64(5) pp. 888​-890​.​ DOI: https://doi.org/10.1212/01.WNL.0000153570.33845.6A 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Visually self-induced seizures sensitive to round objects​
    Brockmann, K. ; Huppke, P. ; Karenfort, M.; Gärtner, J.   & Hoger, C.​ (2005) 
    Epilepsia46(5) pp. 786​-789​.​ DOI: https://doi.org/10.1111/j.1528-1167.2005.54004.x 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​A decreasing rate of neural tube defects following the recommendations for periconceptional folic acid supplementation​
    Klusmann, A.; Heinrich, B.; Stopler, H.; Gärtner, J. ; Mayatepek, E. & Kries, R. von​ (2005) 
    Acta Paediatrica94(11) pp. 1538​-1542​.​ DOI: https://doi.org/10.1080/08035250500340396 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Tau, phospho-tau, and S-100B in the cerebrospinal fluid of children with multiple sclerosis​
    Rostasy, K.; Withut, E.; Pohl, D.; Lange, P. ; Ciesielcyk, B. ; Diem, R.   & Gärtner, J.  et al.​ (2005) 
    Journal of Child Neurology20(10) pp. 822​-825​.​ DOI: https://doi.org/10.1177/08830738050200100801 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations​
    Rosewich, H. ; Ohlenbusch, A.   & Gärtner, J. ​ (2005) 
    Journal of Medical Genetics42(9) art. e58​.​ DOI: https://doi.org/10.1136/jmg.2005.033324 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Acute motor and sensory axonal neuropathy (AMSAN) in a 15-year-old boy presenting with severe pain and distal muscle weakness​
    Rostásy, K. M.; Huppke, P. ; Beckers, B.; Brockmann, K. ; Degenhardt, V.; Wesche, B. & König, F.  et al.​ (2005) 
    Neuropediatrics36(4) pp. 260​-264​.​ DOI: https://doi.org/10.1055/s-2005-865774 
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  • 2005 Journal Article | Research Paper
    ​ ​Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset​
    Brockmann, K. ; Simpson, M. A.; Faber, A.; Bonnernann, C.; Crosby, A. H. & Gärtner, J. ​ (2005) 
    Neuropediatrics36(4) pp. 274​-278​.​ DOI: https://doi.org/10.1055/s-2005-872809 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2​
    Huppke, P. ; Ohlenbusch, A. ; Brendel, C.; Laccone, F.   & Gärtner, J. ​ (2005) 
    American Journal of Medical Genetics137A(2) pp. 136​-138​.​ DOI: https://doi.org/10.1002/ajmg.a.30764 
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  • 2005 Journal Article | Letter Note
    ​ ​Perisylvian polymicrogyria in Landau-Kleffner syndrome​
    Huppke, P. ; Kallenberg, K.   & Gärtner, J. ​ (2005) 
    Neurology64(9).​ DOI: https://doi.org/10.1212/01.WNL.0000160386.79347.4A 
    Details  DOI  PMID  PMC  WoS 
  • 2004 Conference Abstract
    ​ ​The use of interferon-beta-1a (Rebif((R))) in children and adolescents with multiple sclerosis​
    Pohl, D.; Rostasy, K.; Hanefeld, E. & Gärtner, J. ​ (2004)
    MULTIPLE SCLEROSIS10(7032) ​20th Congress of the European-Committee-for-Treatment-and-Research-in-Multiple- Sclerosis/9th Annual Meeting of Rehabilitation in MS​, Vienna, AUSTRIA.
    London​: Arnold, Hodder Headline Plc.
    Details  WoS 
  • 2004 Conference Abstract
    ​ ​Allogeneic transplantation in X-linked, childhood onset, cerebral adrenoleukodystrophy​
    Ebell, W.; Kuhl, J.; Sydow, U.; Strauss, G.; Kohler, W.; Baumann, M. & Weddige-Diedrichs, A. et al.​ (2004)
    Bone Marrow Transplantation33 pp. S56​-S57. ​30th Annual Meeting of the European-Group-for-Blood-and-Marrow-Transplantation/20th Meeting of the EBMT-Nurses-Group/3rd Meeting of the EBMT-Data-Management-Group​, Barcelona, SPAIN.
    London​: Nature Publishing Group.
    Details  WoS 
  • 2004 Journal Article | Letter Note
    ​ ​First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome​
    Strenge, S.; Froster, U. G.; Wanders, R. J. A.; Gärtner, J. ; Maier, E. M.; Muntau, A. C. & Faber, R.​ (2004) 
    Prenatal Diagnosis24(2) pp. 151​-153​.​ DOI: https://doi.org/10.1002/pd.805 
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  • 2004 Journal Article | Research Paper
    ​ ​Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease​
    Uhlenberg, B.; Schuelke, M.; Ruschendorf, F.; Ruf, N.; Kaindl, A. M.; Henneke, M. & Thiele, H. et al.​ (2004) 
    American journal of human genetics75(2) pp. 251​-260​.​ DOI: https://doi.org/10.1086/422763 
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  • 2004 Journal Article | Research Paper
    ​ ​Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-Like syndrome​
    Henneke, M.; Wehner, L. E.; Hennies, H. C.; Preuss, N. & Gärtner, J. ​ (2004) 
    American Journal of Medical Genetics128A(2) pp. 156​-158​.​ DOI: https://doi.org/10.1002/ajmg.a.30068 
    Details  DOI  PMID  PMC  WoS 
  • 2004 Journal Article | Research Paper
    ​ ​Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes​
    Steinfeld, R. ; Steinke, H. B.; Isbrandt, D.; Kohlschuetter, A. & Gärtner, J. ​ (2004) 
    Human Molecular Genetics13(20) pp. 2483​-2491​.​ DOI: https://doi.org/10.1093/hmg/ddh264 
    Details  DOI  PMID  PMC  WoS 
  • 2003 Journal Article
    ​ ​X-chromosomal adrenoleukodystrophy. A group II peroxisomal metabolic disorder​
    Klusmann, A.; Dehmel, T. & Gärtner, J. ​ (2003) 
    Monatsschrift Kinderheilkunde151(4) pp. 444​-+​.​ DOI: https://doi.org/10.1007/s00112-003-0695-0 
    Details  DOI  WoS 
  • 2003 Journal Article
    ​ ​Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease​
    Henneke, M.; Flaschker, N.; Helbling, C.; Müller, M.; Schadewaldt, P.; Gärtner, J.   & Wendel, U.​ (2003) 
    Human Mutation22(5) pp. 417​-417​.​ DOI: https://doi.org/10.1002/humu.9187 
    Details  DOI 
  • 2003 Journal Article | Research Paper
    ​ ​The peroxisomal membrane targeting elements of human peroxin 2 (PEX2)​
    Biermanns, M.; von Laar, J.; Brosius, U. & Gärtner, J. ​ (2003) 
    European Journal of Cell Biology82(4) pp. 155​-162​.​ DOI: https://doi.org/10.1078/0171-9335-00310 
    Details  DOI  PMID  PMC  WoS 
  • 2003 Journal Article | Research Paper
    ​ ​Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts​
    Bugiani, M.; Moroni, I.; Bizzi, A.; Nardocci, N.; Bettecken, T.; Gärtner, J.   & Uziel, G.​ (2003) 
    Neuropediatrics34(4) pp. 211​-214​.​ DOI: https://doi.org/10.1055/s-2003-42209 
    Details  DOI  PMID  PMC  WoS 
  • 2003 Conference Paper
    ​ ​Is there a Phenotype/Genotype Correlation in Peroxisome Biogenesis Disorders (PBDs)?​
    Gärtner, J. ​ (2003)
    In:Roels, F.​ (Ed.), ​Peroxisomal disorders and regulation of genes pp. 59​-65. , Ghent, BELGIUM.
    New York​: Kluwer Academic/Plenum Publ. DOI: https://doi.org/10.1007/978-1-4419-9072-3_7 
    Details  DOI  PMID  PMC  WoS 
  • 2002 Journal Article
    ​ ​Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?​
    Rubie, C.; Lichtner, P.; Gärtner, J. ; Siekiera, M.; Uziel, G.; Kohlmann, B. & Kohlschütter, A. et al.​ (2002) 
    Human Mutation21(1) pp. 45​-52​.​ DOI: https://doi.org/10.1002/humu.10145 
    Details  DOI 
  • 2002 Journal Article | Research Paper
    ​ ​Maple syrup urine disease: Mutation analysis in Turkish patients​
    Dursun, A.; Henneke, M.; Ozgul, K.; Gärtner, J. ; Coskun, T.; Tokatli, A. & Kalkanoglu, H. S. et al.​ (2002) 
    Journal of Inherited Metabolic Disease25(2) pp. 89​-97​.​ DOI: https://doi.org/10.1023/A:1015668425004 
    Details  DOI  PMID  PMC  WoS 
  • 2002 Journal Article | Research Paper
    ​ ​Two different targeting signals direct human peroxisomal membrane protein 22 to peroxisomes​
    Brosius, U.; Dehmel, T. & Gärtner, J. ​ (2002) 
    Journal of biological chemistry277(1) pp. 774​-784​.​ DOI: https://doi.org/10.1074/jbc.M108155200 
    Details  DOI  PMID  PMC  WoS 
  • 2002 Journal Article | Research Paper
    ​ ​Multimodal target point assessment for stereotactic biopsy with diffuse bithalamic in children astrocytomas​
    Messing-Junger, A. M.; Floeth, F. W.; Pauleit, D.; Reifenberger, G.; Willing, R.; Gärtner, J.   & Coenen, H. H. et al.​ (2002) 
    Child's Nervous System18(8) pp. 445​-449​.​ DOI: https://doi.org/10.1007/s00381-002-0644-6 
    Details  DOI  PMID  PMC  WoS 
  • 2002 Conference Paper | Research Paper
    ​ ​Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis​
    Gärtner, J. ; Dehmel, T.; Klusmann, A. & Roerig, P.​ (2002)
    ​Endocrine Research (4) pp. 741​-748. (Vol. 28). ​10th Conference on the Adrenal Cortex​, SAN FRANCISCO, CALIFORNIA.
    New york​: Marcel Dekker Inc. DOI: https://doi.org/10.1081/ERC-120016999 
    Details  DOI  PMID  PMC  WoS 
  • 2002 Journal Article | Research Paper
    ​ ​PEX1 mutations in complementation group I of Zellweger spectrum patients correlate with severity of disease​
    Preuss, N.; Brosius, U.; Biermanns, M.; Muntau, A. C.; Conzelmann, E. & Gärtner, J. ​ (2002) 
    Pediatric Research51(6) pp. 706​-714​.​ DOI: https://doi.org/10.1203/00006450-200206000-00008 
    Details  DOI  PMID  PMC  WoS 
  • 2002 Journal Article | Research Paper
    ​ ​Diagnostic difficulties in childhood bilateral thalamic astrocytomas​
    Gudowius, S.; Engelbrecht, V.; Messing-Junger, M.; Reifenberger, G. & Gärtner, J. ​ (2002) 
    Neuropediatrics33(6) pp. 331​-335​.​ DOI: https://doi.org/10.1055/s-2002-37085 
    Details  DOI  PMID  PMC  WoS 
  • 2002 Review
    ​ ​Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders​
    Brosius, U.& Gärtner, J. ​ (2002)
    Cellular and Molecular Life Sciences (CMLS), 59​(6) pp. 1058​-1069​.​
    Birkhauser Verlag Ag. DOI: https://doi.org/10.1007/s00018-002-8486-7 
    Details  DOI  PMID  PMC  WoS 
  • 2001 Journal Article | Research Paper
    ​ ​Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene​
    Weller, S. & Gärtner, J. ​ (2001) 
    Human Mutation18(1) pp. 1​-12​.​ DOI: https://doi.org/10.1002/humu.1144 
    Details  DOI  PMID  PMC  WoS 
  • 2001 Journal Article | Research Paper
    ​ ​Characteristic clinical features of idiopathic neuralgic amyotrophy in childhood​
    Weller, S.; Gärtner, J.   & Lenard, H. G.​ (2001) 
    Neuropediatrics32(2).​ DOI: https://doi.org/10.1055/s-2001-13880 
    Details  DOI  PMID  PMC  WoS 
  • 2001 Journal Article | Letter Note
    ​ ​Retrobulbar abscess in a neonate​
    Klusmann, A.; Engelbrecht, V.; Unsold, R.; Hassler, W. & Gärtner, J. ​ (2001) 
    Neuropediatrics32(4) pp. 219​-220​.​ DOI: https://doi.org/10.1055/s-2001-17378 
    Details  DOI  PMID  PMC  WoS 
  • 2001 Journal Article | Research Paper
    ​ ​Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes​
    Biermanns, M. & Gärtner, J. ​ (2001) 
    Biochemical and Biophysical Research Communications285(3) pp. 649​-655​.​ DOI: https://doi.org/10.1006/bbrc.2001.5220 
    Details  DOI  PMID  PMC  WoS 
  • 2001 Journal Article | Research Paper
    ​ ​Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters​
    Roerig, P.; Mayerhofer, P.; Holzinger, A. & Gärtner, J. ​ (2001) 
    FEBS Letters492(1-2) pp. 66​-+​.​ DOI: https://doi.org/10.1016/S0014-5793(01)02235-9 
    Details  DOI  PMID  PMC  WoS 
  • 2000 Journal Article | Research Paper
    ​ ​Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein​
    Biermanns, M. & Gärtner, J. ​ (2000) 
    Biochemical and Biophysical Research Communications273(3) pp. 985​-990​.​ DOI: https://doi.org/10.1006/bbrc.2000.3039 
    Details  DOI  PMID  PMC  WoS 
  • 2000 Journal Article
    ​ ​The human PEX3 gene encoding a peroxisomal assembly protein: Genomic organization, positional mapping, and mutation analysis in candidate phenotypes​
    Muntau, A. C.; Holzinger, A.; Mayerhofer, P. U.; Gärtner, J. ; Roscher, A. A. & Kammerer, S.​ (2000) 
    Biochemical and Biophysical Research Communications268(3) pp. 704​-710​.​ DOI: https://doi.org/10.1006/bbrc.2000.2193 
    Details  DOI  PMID  PMC  WoS 
  • 2000 Conference Paper | Research Paper
    ​ ​Disorders related to peroxisomal membranes​
    Gärtner, J. ​ (2000)
    ​Journal of Inherited Metabolic Disease (3) pp. 264​-272. (Vol. 23). ​37th Annual Symposium of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism​, GENOA, ITALY.
    Dordrecht​: Kluwer Academic Publ. DOI: https://doi.org/10.1023/A:1005636113499 
    Details  DOI  PMID  PMC  WoS 
  • 2000 Review
    ​ ​Organelle disease: peroxisomal disorders​
    Gärtner, J. ​ (2000)
    European Journal of Pediatrics, 159​ pp. S236​-S239​.​
    Springer. DOI: https://doi.org/10.1007/PL00014410 
    Details  DOI  PMID  PMC  WoS 
  • 1999 Journal Article | Research Paper
    ​ ​Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype​
    Gärtner, J. ; Preuss, N.; Brosius, U. & Biermanns, M.​ (1999) 
    Journal of Inherited Metabolic Disease22(3) pp. 311​-313​.​ DOI: https://doi.org/10.1023/A:1005599903632 
    Details  DOI  PMID  PMC  WoS 
  • 1998 Journal Article | Research Paper
    ​ ​Paraneoplastic limbic encephalitis in two teenage girls​
    Rosenbaum, T.; Gärtner, J. ; Korholz, D.; Janssen, G.; Schneider, D.; Engelbrecht, V. & Gobel, U. et al.​ (1998) 
    Neuropediatrics29(3) pp. 159​-162​.​ DOI: https://doi.org/10.1055/s-2007-973554 
    Details  DOI  PMID  PMC  WoS 
  • 1998 Journal Article | Research Paper
    ​ ​Megalencephaly, mega corpus callosum, and complete lack of motor development: A previously undescribed syndrome​
    Göhlich-Ratmann, G.; Baethmann, M.; Lorenz, P.; Gärtner, J. ; Goebel, H. H.; Engelbrecht, V. & Christen, H. J. et al.​ (1998) 
    American Journal of Medical Genetics79(3) pp. 161​-167​.​ DOI: https://doi.org/10.1002/(sici)1096-8628(19980923)79:3<161::aid-ajmg2>3.0.co;2-q 
    Details  DOI  PMID  PMC  WoS 
  • 1998 Journal Article | Research Paper
    ​ ​A new leukoencephalopathy with bilateral anterior temporal lobe cysts​
    Olivier, M.; Lenard, H. C.; Aksu, F. & Gärtner, J. ​ (1998) 
    Neuropediatrics29(5) pp. 225​-228​.​ DOI: https://doi.org/10.1055/s-2007-973566 
    Details  DOI  PMID  PMC  WoS 
  • 1998 Review
    ​ ​Clinical and genetic aspects of X-linked adrenoleukodystrophy​
    Gärtner, J. ; Braun, A.; Holzinger, A.; Roerig, P.; Lenard, H. G.& Roscher, A. A.​ (1998)
    Neuropediatrics, 29​(1) pp. 3​-13​.​
    Hippokrates Verlag Gmbh. DOI: https://doi.org/10.1055/s-2007-973526 
    Details  DOI  PMID  PMC  WoS 
  • 1998 Journal Article | Research Paper
    ​ ​Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70​
    Gärtner, J. ; Brosius, U.; Obie, C.; Watkins, P. A. & Valle, D.​ (1998) 
    European Journal of Cell Biology76(4) pp. 237​-245​.​ DOI: https://doi.org/10.1016/s0171-9335(98)80001-0 
    Details  DOI  PMID  PMC  WoS 
  • 1998 Journal Article | Research Paper
    ​ ​Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1)​
    Gärtner, J. ; Jimenez-Sanchez, G.; Roerig, P. & Valle, D.​ (1998) 
    Genomics48(2) pp. 203​-208​.​ DOI: https://doi.org/10.1006/geno.1997.5177 
    Details  DOI  PMID  PMC  WoS 
  • 1997 Journal Article | Research Paper
    ​ ​Leukodystrophy incidence in Germany​
    Heim, P.; Claussen, M. ; Hoffmann, B.; Conzelmann, E.; Gärtner, J. ; Harzer, K. & Hunneman, D. H.  et al.​ (1997) 
    American Journal of Medical Genetics71(4) pp. 475​-478​.​
    Details  PMID  PMC  WoS 
  • 1997 Journal Article | Research Paper
    ​ ​Cerebral metabolic changes in biotinidase deficiency​
    Schurmann, M.; Engelbrecht, V.; Lohmeier, K.; Lenard, H. G.; Wendel, U. & Gärtner, J. ​ (1997) 
    Journal of Inherited Metabolic Disease20(6) pp. 755​-760​.​ DOI: https://doi.org/10.1023/A:1005307415289 
    Details  DOI  PMID  PMC  WoS 
  • 1997 Journal Article | Research Paper
    ​ ​The value of new MRI techniques in adrenoleukodystrophy​
    Engelbrecht, V.; Rassek, M.; Gärtner, J. ; Kahn, T. & Modder, U.​ (1997) 
    Pediatric Radiology27(3) pp. 207​-215​.​ DOI: https://doi.org/10.1007/s002470050103 
    Details  DOI  PMID  PMC  WoS 
  • 1995 Journal Article | Research Paper
    ​ ​Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes​
    Braun, A.; Ambach, H.; Kammerer, S.; Rolinski, B.; Stockler, S.; Rabl, W. & Gärtner, J.  et al.​ (1995) 
    American journal of human genetics56(4) pp. 854​-861​.​
    Details  PMID  PMC  WoS 
  • 1994 Journal Article | Research Paper
    ​ ​Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins.​
    Gärtner, J. ; Obie, C.; Watkins, P. A. & Valle, D.​ (1994) 
    Journal of Inherited Metabolic Disease17(3) pp. 327​-329​.​ DOI: https://doi.org/10.1007/BF00711820 
    Details  DOI  PMID  PMC  WoS 
  • 1993 Journal Article
    ​ ​Localization of the 70-kDa Peroxisomal Membrane Protein to Human 1p21-p22 and Mouse 3​
    Gärtner, J. ; Kearns, W.; Rosenberg, C.; Pearson, P.; Copeland, N. G.; Gilbert, D. J. & Jenkins, N. A. et al.​ (1993) 
    Genomics15(2) pp. 412​-414​.​ DOI: https://doi.org/10.1006/geno.1993.1076 
    Details  DOI 
  • 1993 Journal Article
    ​ ​Penetrating the peroxisome​
    Valle, D. & Gärtner, J. ​ (1993) 
    Nature361(6414) pp. 682​-683​.​ DOI: https://doi.org/10.1038/361682a0 
    Details  DOI 
  • 1992 Journal Article
    ​ ​A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)​
    Gärtner, J. ; Obie, C.; Moser, H. & Valle, D.​ (1992) 
    Human Molecular Genetics1(8) pp. 654​-654​.​ DOI: https://doi.org/10.1093/hmg/1.8.654 
    Details  DOI 
  • 1992 Journal Article
    ​ ​Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome​
    Gärtner, J. ; Moser, H. & Valle, D.​ (1992) 
    Nature Genetics1(1) pp. 16​-23​.​ DOI: https://doi.org/10.1038/ng0492-16 
    Details  DOI 
  • 1990 Journal Article
    ​ ​Study of peroxisomal proteins in patients with zellweger syndrome​
    Gärtner, J. ; Balfe, A.; Chen, W. W. & Moser, H. W.​ (1990) 
    Journal of Inherited Metabolic Disease13(3) pp. 383​-386​.​ DOI: https://doi.org/10.1007/BF01799401 
    Details  DOI 
  • 1987 Journal Article
    ​ ​Membrane Fluidity of Nonmuscle Cells in Duchenne Muscular Dystrophy: Effect on Lymphocyte Membranes of Incubation in Patient and Control Sera​
    Hübner, C.; Kohlschütter, A. & Gärtner, J. ​ (1987) 
    Pediatric Research22(4) pp. 488​-492​.​ DOI: https://doi.org/10.1203/00006450-198710000-00027 
    Details  DOI 
  • 1986 Journal Article
    ​ ​59 Low Plasma Membrane Fluidity in Juvenile Neuronal Ceroid Lipofuscinosis (NCL) Lymphocytes​
    Kohlschütter, A.; Hübner, C. & Gärtner, J. ​ (1986) 
    Pediatric Research20(10) pp. 1043​-1043​.​ DOI: https://doi.org/10.1203/00006450-198610000-00113 
    Details  DOI 

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