Prof. Dr. med. Peter Huppke

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  • 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: Clinical, 7 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) 
    Mitochondrion, 21 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 Neurology, 77(4) pp. 655​-667​.​ DOI: https://doi.org/10.1002/ana.24364 
    ​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 Genetics, 23(5) pp. 616​-620​.​ DOI: https://doi.org/10.1038/ejhg.2014.160 
    ​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 ONE, 9(12) art. e115444​.​ DOI: https://doi.org/10.1371/journal.pone.0115444 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 Sclerosis, 21(4) pp. 382​-387​.​ DOI: https://doi.org/10.1177/1352458514543340 
    ​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) 
    Neurology, 82(11) pp. 945​-955​.​ DOI: https://doi.org/10.1212/WNL.0000000000000212 
    ​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 Neurology, 21(3) pp. 441​-446​.​ DOI: https://doi.org/10.1111/ene.12327 
    ​Details  DOI  PMID  PMC  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 Disorders, 5 art. 23​.​ DOI: https://doi.org/10.1186/1866-1955-5-23 
    ​Details  DOI  PMID  PMC  WoS 
  • 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) 
    Neurology, 81(9) pp. 784​-792​.​ DOI: https://doi.org/10.1212/wnl.0b013e3182a2ce0e 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 Sclerosis, 19(7) pp. 941​-946​.​ DOI: https://doi.org/10.1177/1352458512466317 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 Purification, 36(2) pp. 92​-97​.​ DOI: https://doi.org/10.1159/000354077 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 Mutation, 33(8) pp. 1207​-1215​.​ DOI: https://doi.org/10.1002/humu.22099 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 genetics, 90(1) pp. 61​-68​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.11.030 
    ​Details  DOI  PMID  PMC  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 Neurology, 69(6) pp. 752​-756​.​ DOI: https://doi.org/10.1001/archneurol.2011.2956 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 Medicine, 89(4) pp. 389​-398​.​ DOI: https://doi.org/10.1007/s00109-010-0704-4 
    ​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 Neurology, 41(3) pp. 232​-234​.​ DOI: https://doi.org/10.1016/j.pediatrneurol.2009.03.017 
    ​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 Research, 65(5) pp. 520​-523​.​ DOI: https://doi.org/10.1203/pdr.0b013e31819d9ebc 
    ​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 Neurology, 65(12) pp. 1655​-1658​.​ DOI: https://doi.org/10.1001/archneur.65.12.1655 
    ​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 
  • 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 & Neurobiology, 160(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
    ​ ​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 Neurology, 255 pp. 119​-122​.​ DOI: https://doi.org/10.1007/s00415-008-6022-x 
    ​Details  DOI  PMID  PMC  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 Physiology, 579(3) pp. 863​-876​.​ DOI: https://doi.org/10.1113/jphysiol.2006.119966 
    ​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 Neurology, 11(1) pp. 10​-16​.​ DOI: https://doi.org/10.1016/j.ejpn.2006.09.003 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 Genetics, 43(10) pp. 814​-816​.​ DOI: https://doi.org/10.1136/jmg.2006.042077 
    ​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) 
    Epilepsia, 46(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
    ​ ​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) 
    Neuropediatrics, 36(4) pp. 260​-264​.​ DOI: https://doi.org/10.1055/s-2005-865774 
    ​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 Genetics, 137A(2) pp. 136​-138​.​ DOI: https://doi.org/10.1002/ajmg.a.30764 
    ​Details  DOI  PMID  PMC  WoS 

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