Author Huppke, Peter

1 to 20 of 40 Items
  • 2024 | Journal Article | 
    ​ ​Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data​
    Marten, L. M; Krätzner, R.; Salomons, G. S; Fernandez Ojeda, M.; Dechent, P.; Gärtner, J. & Huppke, P. et al.​ (2024) 
    Molecular Genetics and Metabolism Reports, 38 pp. 101053​.​ DOI: https://doi.org/10.1016/j.ymgmr.2024.101053 
    ​Details  DOI  PMID  PMC 
  • 2023 | Journal Article
    ​ ​Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome​
    Wong, K. M.; Wegener, E.; Baradaran-Heravi, A.; Huppke, B.; Gärtner, J. & Huppke, P.​ (2023) 
    International Journal of Molecular Sciences, 24(14) pp. 11665​.​ DOI: https://doi.org/10.3390/ijms241411665 
    ​Details  DOI 
  • 2023 | Journal Article
    ​ ​Pretreatment Neurofilament Light Chain Serum Levels, Early Disease Severity, and Treatment Response in Pediatric Multiple Sclerosis​
    Huppke, B. M; Reinert, M.; Hummel-Abmeier, H.; Stark, W.; Gärtner, J. & Huppke, P.​ (2023) 
    Neurology,.​ DOI: https://doi.org/10.1212/WNL.0000000000207791 
    ​Details  DOI 
  • 2022 | Journal Article
    ​ ​Mutations in TAF8 cause a neurodegenerative disorder​
    Wong, K. M.; Jepsen, W. M; Efthymiou, S.; Salpietro, V.; Sanchez-Castillo, M.; Yip, J. & Kriouile, Y. et al.​ (2022) 
    Brain, art. awac154​.​ DOI: https://doi.org/10.1093/brain/awac154 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper | 
    ​ ​A novel remitting leukodystrophy associated with a variant in FBP2​
    Gizak, A.; Diegmann, S.; Dreha-Kulaczewski, S.; Wiśniewski, J.; Duda, P.; Ohlenbusch, A. & Huppke, B. et al.​ (2021) 
    Brain Communications, 3(2) pp. fcab036​.​ DOI: https://doi.org/10.1093/braincomms/fcab036 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​MOG Antibodies in Pediatric Neurology​
    Huppke, P.​ (2017) 
    Neuropediatrics, 49(01) pp. 001​-002​.​ DOI: https://doi.org/10.1055/s-0037-1606545 
    ​Details  DOI 
  • 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 Journal, 22 , London, ENGLAND.
    London​: Sage Publications Ltd.
    ​Details  WoS 
  • 2016 | Conference Abstract
    ​ ​Fingolimod in active pediatric onset multiple sclerosis​
    Huppke, P.; Hummel, H. M.; Stark, W. & Gaertner, J. ​ (2016)
    Multiple Sclerosis Journal, 22 , London, ENGLAND.
    London​: Sage Publications Ltd.
    ​Details  WoS 
  • 2016 | Journal Article
    ​ ​Age-Dependent Seroprevalence of JCV Antibody in Children​
    Hennes, E. M.; Kornek, B.; Huppke, P.; Reindl, M.; Rostasy, K. & Berger, T.​ (2016) 
    Neuropediatrics, 47(2) pp. 112​-114​.​ DOI: https://doi.org/10.1055/s-0035-1565272 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article
    ​ ​Apheresis in treatment of acute inflammatory demyelinating disorders​
    Muehlhausen, J.; Kitze, B.; Huppke, P.; Mueller, G. A. & Koziolek, M. J.​ (2015) 
    Atherosclerosis Supplements, 18 pp. 251​-256​.​ DOI: https://doi.org/10.1016/j.atherosclerosissup.2015.02.037 
    ​Details  DOI  PMID  PMC  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 Journal, 20 pp. 397​-398. , Boston, MA.
    London​: Sage Publications Ltd.
    ​Details  WoS 
  • 2014 | Conference Abstract
    ​ ​Novel mechanisms of glucocorticoids in the treatment of multiple sclerosis​
    Fischer, H. J.; Schweingruber, N.; Luehder, F.; Simons, M.; Huppke, P. & Reichardt, H. M.​ (2014)
    Journal of Neuroimmunology, 275(1-2) ​12th International Congress of Neuroimmunology (ISNI)​, Mainz, GERMANY.
    Amsterdam​: Elsevier Science Bv. DOI: https://doi.org/10.1016/j.jneuroim.2014.08.157 
    ​Details  DOI  WoS 
  • 2014 | Journal Article
    ​ ​Chemokine-mediated redirection of T cells constitutes a critical mechanism of glucocorticoid therapy in autoimmune CNS responses​
    Schweingruber, N.; Fischer, H. J.; Fischer, L.; van den Brandt, J.; Karabinskaya, A.; Labi, V. & Villunger, A. et al.​ (2014) 
    Acta Neuropathologica, 127(5) pp. 713​-729​.​ DOI: https://doi.org/10.1007/s00401-014-1248-4 
    ​Details  DOI  PMID  PMC  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 Medicine, 91(6).​ DOI: https://doi.org/10.1007/s00109-013-1029-x 
    ​Details  DOI  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 Genetics, 90(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)
    Neurology, 78 , New Orleans, LA.
    Philadelphia​: Lippincott Williams & Wilkins.
    ​Details  WoS 
  • 2012 | Journal Article | Letter Note
    ​ ​Periventricular heterotopia Identifying homogeneity among heterogeneity​
    Pandolfo, M.; Depondt, C. & Huppke, P.​ (2012) 
    Neurology, 79(12) pp. 1192​-1193​.​ DOI: https://doi.org/10.1212/WNL.0b013e31826aad7d 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 Disease, 35 
    Dordrecht​: Springer.
    ​Details  WoS 
  • 2012 | Journal Article
    ​ ​Long-Term Outcome of Children with Acute Cerebellitis​
    Hennes, E. M.; Zotter, S.; Dorninger, L.; Hartmann, H.; Haeusler, M.; Huppke, P. & Jacobs, J. et al.​ (2012) 
    Neuropediatrics, 43(5) pp. 240​-248​.​ DOI: https://doi.org/10.1055/s-0032-1324732 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 Neurology, 258 , Lisbon, PORTUGAL.
    Heidelberg​: Springer.
    ​Details  WoS 

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