Detalhe da pesquisa
1.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
; 95(5): 590-601, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439726
2.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 88(7): 575-585, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28501821
3.
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
J Neurol Neurosurg Psychiatry
; 85(5): 486-92, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24198383
4.
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Neurology
; 88(15): 1445-1453, 2017 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283593
5.
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
Neurology
; 83(7): 612-9, 2014 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25008398
6.
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
Neuromuscul Disord
; 23(5): 399-403, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23489662