Author Huppke, Peter
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2000 | Journal Article
Two brothers with Hennekam syndrome and cerebral abnormalities
Huppke, P.; Christen, H.-J.; Sattler, B. & Hanefeld, F. (2000)
Clinical Dysmorphology, 9(1) pp. 21-24. DOI: https://doi.org/10.1097/00019605-200009010-00004
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2000 | Journal Article
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
Huppke, P.; Laccone, F. A.; Kramer, N.; Engel, W. & Hanefeld, F. (2000)
Human Molecular Genetics, 9(9) pp. 1369-1375. DOI: https://doi.org/10.1093/hmg/9.9.1369
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2000 | Journal Article
UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation
Shin, Y. S.; Korenke, C.; Huppke, P.; Knerr, I. & Podskarbi, T. (2000)
Journal of Inherited Metabolic Disease, 23(4) pp. 383-386. DOI: https://doi.org/10.1023/A:1005699719068
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2001 | Journal Article
Endocrinological study on growth retardation in Rett syndrome
Huppke, P.; Roth, C.; Christen, H.-J.; Brockmann, K. & Hanefeld, F. (2001)
Acta Paediatrica, 90(11) pp. 1257-1261.
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2001 | Journal Article
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
Trappe, R.; Laccone, F. A.; Cobilanschi, J.; Meins, M.; Huppke, P.; Hanefeld, F. & Engel, W. (2001)
The American Journal of Human Genetics, 68(5) pp. 1093-1101. DOI: https://doi.org/10.1086/320109
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2001 | Journal Article
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
Laccone, F. A.; Huppke, P.; Hanefeld, F. & Meins, M. (2001)
Human Mutation, 17(3) pp. 183-190. DOI: https://doi.org/10.1002/humu.3
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2002 | Journal Article
Eosinophilic fasciitis leading to painless contractures
Huppke, P.; Wilken, B.; Brockmann, K.; Sattler, B. & Hanefeld, F. (2002)
European Journal of Pediatrics, 161(10) pp. 528-530. DOI: https://doi.org/10.1007/s00431-002-1038-1
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2002 | Journal Article
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
Huppke, P.; Held, M.; Hanefeld, F.; Engel, W. & Laccone, F. A. (2002)
Neuropediatrics, 33(2) pp. 63-68. DOI: https://doi.org/10.1055/s-2002-32365
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2002 | Journal Article
Altered methylation pattern of the G6 PD promoter in Rett syndrome
Huppke, P.; Bohlander, S. K.; Kramer, N.; Laccone, F. A. & Hanefeld, F. (2002)
Neuropediatrics, 33(2) pp. 105-108. DOI: https://doi.org/10.1055/s-2002-32373
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2002 | Journal Article
EEG features of Glut-1 deficiency syndrome
von Moers, A.; Brockmann, K.; Wang, D.; Korenke, C. G.; Huppke, P.; De Vivo, D. C. & Hanefeld, F. (2002)
Epilepsia, 43(8) pp. 941-945. DOI: https://doi.org/10.1046/j.1528-1157.2002.50401.x
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2003 | Journal Article
The spectrum of phenotypes in females with Rett Syndrome
Huppke, P.; Held, M.; Hanefeld, F. & Laccone, F. A. (2003)
Brain and Development, 25(5) pp. 346-351. DOI: https://doi.org/10.1016/S0387-7604(03)00018-4
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2003 | Journal Article
Indication for genetic testing: A checklist for Rett syndrome
Huppke, P.; Kohler, K.; Laccone, F. A. & Hanefeld, F. (2003)
The Journal of Pediatrics, 142(3) pp. 332-335. DOI: https://doi.org/10.1067/mpd.2003.96
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2004 | Journal Article
Fetal alcohol syndrome in association with Rett syndrome
Zoll, B.; Huppke, P.; Wessel, A. D.; Bartels, I. & Laccone, F. A. (2004)
GENETIC COUNSELING, 15(2) pp. 207-212.
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2004 | Journal Article
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome (vol 23, pg 234, 2003)
Laccone, F. A.; Junemann, I.; Whatley, S.; Morgan, R.; Butler, R.; Huppke, P. & Ravine, D. (2004)
Human Mutation, 23(4). DOI: https://doi.org/10.1002/humu.20042
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2004 | Journal Article
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
Laccone, F. A.; Junemann, I.; Whatley, S.; Morgan, R.; Butler, R.; Huppke, P. & Ravine, D. (2004)
Human Mutation, 23(3) pp. 234-244. DOI: https://doi.org/10.1002/humu.20004
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2006 | Conference Abstract
The C57BL/6J mouse strain: An animal model to study spontaneous obstructive apnoea?
Stettner, G. M.; Huppke, P. & Dutschmann, M. (2006)
The FASEB Journal, 20(4) Experimental Biology 2006 Meeting, San Francisco, CA.
Bethesda: Federation Amer Soc Exp Biol.
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2006 | Journal Article
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
Archer, H. L.; Whatley, S. D.; Evans, J. C.; Ravine, D.; Huppke, P.; Kerr, A. & Bunyan, D. et al. (2006)
Journal of Medical Genetics, 43(5) pp. 451-456. DOI: https://doi.org/10.1136/jmg.2005.033464
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2008 | Journal Article
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
Zim, B.; Grundmann, K.; Huppke, P.; Puthenparampil, J.; Wolburg, H.; Riess, O. & Mueller, U. (2008)
Journal of Neurology Neurosurgery & Psychiatry, 79(12) pp. 1327-1330. DOI: https://doi.org/10.1136/jnnp.2008.148270
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2009 | Journal Article
Therapy with Interferon beta-1b of a Patient with Childhood Multiple Sclerosis
Huppke, P. & Gaertner, J. (2009)
Aktuelle Neurologie, 36 pp. S271-S273. DOI: https://doi.org/10.1055/s-0029-1220418
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2010 | Journal Article
Rett Syndrome: Revised Diagnostic Criteria and Nomenclature
Neul, J. L.; Kaufmann, W. E.; Glaze, D. G.; Christodoulou, J.; Clarke, A. J.; Bahi-Buisson, N. & Leonard, H. et al. (2010)
Annals of Neurology, 68(6) pp. 944-950. DOI: https://doi.org/10.1002/ana.22124
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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 Neurology, 258 , Lisbon, PORTUGAL.
Heidelberg: Springer.
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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
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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.
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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
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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 Disease, 35
Dordrecht: Springer.
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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
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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
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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.
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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
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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
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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
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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.
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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.
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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
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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
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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
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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
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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
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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
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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
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