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.
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Brain
; 146(8): 3470-3483, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454683
3.
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
4.
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
5.
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
6.
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
7.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
8.
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
9.
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Clin Genet
; 102(5): 379-390, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882622
10.
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
11.
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
12.
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
13.
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Neurogenetics
; 21(1): 29-37, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31655922
14.
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
15.
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
16.
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
17.
Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
Brain
; 146(5): e31-e32, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36759155
18.
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
19.
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.
J Inherit Metab Dis
; 41(3): 457-477, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556840
20.
C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia.
Dement Geriatr Cogn Disord
; 46(3-4): 180-185, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30261505