Detalhe da pesquisa
1.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
J Med Genet
; 59(5): 505-510, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811134
2.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Hum Mol Genet
; 22(20): 4224-32, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23777631
3.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
N Engl J Med
; 365(25): 2377-88, 2011 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22187985
4.
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
Nat Genet
; 30(1): 22-5, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11743580
5.
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
J Peripher Nerv Syst
; 17(1): 112-22, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22462672
6.
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Genes (Basel)
; 13(2)2022 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205364
7.
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.
Eur J Hum Genet
; 27(9): 1406-1418, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30996334
8.
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Brain
; 130(Pt 4): 1062-75, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17347251
9.
Expression of IL-17B in neurons and evaluation of its possible role in the chromosome 5q-linked form of Charcot-Marie-Tooth disease.
Neuromuscul Disord
; 12(2): 141-50, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11738356
10.
The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C.
Int J Mol Med
; 11(1): 45-7, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12469216
11.
Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.
JAMA Neurol
; 71(8): 1036-42, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24957169
12.
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
Neurology
; 82(12): 1068-75, 2014 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24598713
13.
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
PLoS One
; 9(5): e96387, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24804794
14.
Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
Neurobiol Dis
; 26(2): 323-31, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17336078
15.
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.
Am J Med Genet A
; 136(2): 136-9, 2005 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15940694
16.
Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.
Am J Med Genet A
; 118A(1): 43-8, 2003 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12605439