341 related articles for article (PubMed ID: 15094849)
21. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Silander K; Meretoja P; Juvonen V; Ignatius J; Pihko H; Saarinen A; Wallden T; Herrgård E; Aula P; Savontaus ML
Hum Mutat; 1998; 12(1):59-68. PubMed ID: 9633821
[TBL] [Abstract][Full Text] [Related]
22. A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.
Chavada G; Rao DG; Martindale J; Hadjivassiliou M
J Clin Neuromuscul Dis; 2012 Jun; 13(4):206-8. PubMed ID: 22622165
[TBL] [Abstract][Full Text] [Related]
23. Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.
Speevak MD; Farrell SA
Eur J Med Genet; 2013 Oct; 56(10):566-9. PubMed ID: 23811036
[TBL] [Abstract][Full Text] [Related]
24. Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.
Rautenstrauss B; Huehne K; Thiel C; Kraus C
Hum Genet; 2007 Dec; 122(5):546. PubMed ID: 18380030
[No Abstract] [Full Text] [Related]
25. Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type 1B.
Rautenstrauss B; Huehne K; Thiel C; Kraus C
Hum Genet; 2007 Dec; 122(5):546. PubMed ID: 18380021
[No Abstract] [Full Text] [Related]
26. Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
Yoshihara T; Yamamoto M; Doyu M; Mis KI; Hattori N; Hasegawa Y; Mokuno K; Mitsuma T; Sobue G
Hum Mutat; 2000 Aug; 16(2):177-8. PubMed ID: 10923043
[TBL] [Abstract][Full Text] [Related]
27. Marked phenotypic variation in a family with a new myelin protein zero mutation.
Szabo A; Züchner S; Siska E; Mechler F; Molnar MJ
Neuromuscul Disord; 2005 Nov; 15(11):760-3. PubMed ID: 16198109
[TBL] [Abstract][Full Text] [Related]
28. A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.
Piazza S; Baldinotti F; Fogli A; Conidi ME; Michelucci A; Ienco EC; Mancuso M; Simi P; Siciliano G
Neuromuscul Disord; 2010 Dec; 20(12):817-9. PubMed ID: 20850974
[TBL] [Abstract][Full Text] [Related]
29. Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.
Senderek J; Hermanns B; Lehmann U; Bergmann C; Marx G; Kabus C; Timmerman V; Stoltenburg-Didinger G; Schröder JM
Brain Pathol; 2000 Apr; 10(2):235-48. PubMed ID: 10764043
[TBL] [Abstract][Full Text] [Related]
30. Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.
Brozková D; Mazanec R; Haberlová J; Sakmaryová I; Seeman P
Clin Genet; 2010 Jul; 78(1):81-7. PubMed ID: 20456450
[TBL] [Abstract][Full Text] [Related]
31. Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
Sabet A; Li J; Ghandour K; Pu Q; Wu X; Kamholz J; Shy ME; Cambi F
Neurology; 2006 Oct; 67(7):1141-6. PubMed ID: 17030746
[TBL] [Abstract][Full Text] [Related]
32. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.
Li J; Bai Y; Ianakova E; Grandis M; Uchwat F; Trostinskaia A; Krajewski KM; Garbern J; Kupsky WJ; Shy ME
J Comp Neurol; 2006 Sep; 498(2):252-65. PubMed ID: 16856127
[TBL] [Abstract][Full Text] [Related]
33. Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth syndrome type X.
Rautenstrauss B; Huehne K; Thiel C; Kraus C
Hum Genet; 2007 Dec; 122(5):547. PubMed ID: 18380024
[No Abstract] [Full Text] [Related]
34. Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.
Kochański A
Acta Myol; 2004 May; 23(1):6-9. PubMed ID: 15298082
[TBL] [Abstract][Full Text] [Related]
35. [Different phenotypes of Charcot-Marie-Tooth disease caused by mutations in the same gene. Are classical criteria for classification still valid?].
Sevilla T; Vílchez JJ
Neurologia; 2004 Jun; 19(5):264-71. PubMed ID: 15150710
[TBL] [Abstract][Full Text] [Related]
36. Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B; Huehne K
Hum Genet; 2007 Dec; 122(5):558. PubMed ID: 18386329
[No Abstract] [Full Text] [Related]
37. Novel human pathological mutations. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B; Huehne K
Hum Genet; 2007 Dec; 122(5):557. PubMed ID: 18386326
[No Abstract] [Full Text] [Related]
38. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Mostacciuolo ML; Righetti E; Zortea M; Bosello V; Schiavon F; Vallo L; Merlini L; Siciliano G; Fabrizi GM; Rizzuto N; Milani M; Baratta S; Taroni F
Hum Mutat; 2001; 18(1):32-41. PubMed ID: 11438991
[TBL] [Abstract][Full Text] [Related]
39. A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.
Iida M; Koike H; Ando T; Sugiura M; Yamamoto M; Tanaka F; Sobue G
Neuromuscul Disord; 2012 Feb; 22(2):166-9. PubMed ID: 21940171
[TBL] [Abstract][Full Text] [Related]
40. Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease type 1B.
Lee YC; Chang MH; Lin KP; Soong BW
Hum Genet; 2005 Dec; 118(3-4):547-8. PubMed ID: 16521307
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
