Detalhe da pesquisa
1.
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
J Peripher Nerv Syst
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769024
2.
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.
Proc Natl Acad Sci U S A
; 118(13)2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33753480
3.
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
Int J Mol Sci
; 25(8)2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673950
4.
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Eur J Neurol
; 30(10): 3265-3276, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37335503
5.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Eur J Neurol
; 30(7): 2001-2011, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943151
6.
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot-Marie-Tooth disease to late-onset pure motor neuropathy.
Hum Mutat
; 43(12): 1898-1908, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904125
7.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
J Neurol Neurosurg Psychiatry
; 93(1): 48-56, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518334
8.
Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.
Neuropediatrics
; 53(3): 182-187, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35297028
9.
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
Eur J Neurol
; 28(9): 2846-2854, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34060689
10.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
11.
A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction.
J Peripher Nerv Syst
; 24(1): 120-124, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680856
12.
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.
J Peripher Nerv Syst
; 24(1): 139-144, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734407
13.
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
Neurogenetics
; 19(2): 67-76, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396836
14.
Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.
J Neurol Neurosurg Psychiatry
; 87(10): 1051-60, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27010614
15.
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
J Peripher Nerv Syst
; 21(4): 365-369, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27706887
16.
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
Am J Hum Genet
; 86(1): 77-82, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20045102
17.
Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(5-6): 473-475, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34751056
18.
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
19.
U1 snRNA mis-binding: a new cause of CMT1B.
Neurogenetics
; 11(1): 13-9, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19475438
20.
Confounding clinical presentation and different disease progression in CMT4B1.
Neuromuscul Disord
; 30(7): 576-582, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32586600