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Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Sereda M, Stassart RM, Meyer zu Horste G, Nave KA, Reis A, Rautenstrauss B. Leal A, et al. Among authors: neundorfer b. Neurogenetics. 2009 Oct;10(4):275-87. doi: 10.1007/s10048-009-0183-3. Epub 2009 Mar 17. Neurogenetics. 2009. PMID: 19290556 Free PMC article.
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, Reis A, Rautenstrauss B, Heuss D. Leal A, et al. Among authors: neundorfer b. Neurogenetics. 2003 Aug;4(4):191-7. doi: 10.1007/s10048-003-0153-0. Epub 2003 Jul 5. Neurogenetics. 2003. PMID: 12845552 Free article.
Clinical and morphological phenotype of HMSN 1A mosaicism.
Grehl H, Rautenstrauss B, Liehr T, Bickel A, Ekici A, Bathke K, Neundörfer B. Grehl H, et al. Among authors: neundorfer b. Neuromuscul Disord. 1997 Jan;7(1):27-31. doi: 10.1016/s0960-8966(96)00396-3. Neuromuscul Disord. 1997. PMID: 9132137
Neurological manifestations of chronic hepatitis C.
Heckmann JG, Kayser C, Heuss D, Manger B, Blum HE, Neundörfer B. Heckmann JG, et al. Among authors: neundorfer b. J Neurol. 1999 Jun;246(6):486-91. doi: 10.1007/s004150050388. J Neurol. 1999. PMID: 10431776
Cell death in vasculitic neuropathy.
Heuss D, Probst-Cousin S, Kayser C, Neundörfer B. Heuss D, et al. Among authors: neundorfer b. Muscle Nerve. 2000 Jul;23(7):999-1004. doi: 10.1002/1097-4598(200007)23:7<999::aid-mus1>3.0.co;2-i. Muscle Nerve. 2000. PMID: 10882993
425 results