Detalhe da pesquisa
1.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
2.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
3.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Mov Disord
; 39(1): 209-214, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054570
4.
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
J Peripher Nerv Syst
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581130
5.
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
6.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain
; 146(9): 3800-3815, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913258
7.
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
8.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
9.
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Eur J Neurol
; 30(8): 2506-2517, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166430
10.
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
11.
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
12.
Motor neuron pathology in CANVAS due to RFC1 expansions.
Brain
; 145(6): 2121-2132, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927205
13.
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
14.
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.
Hum Mol Genet
; 29(6): 980-989, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011699
15.
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Clin Genet
; 102(5): 379-390, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882622
16.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol
; 89(5): 967-978, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576057
17.
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
18.
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy.
Muscle Nerve
; 65(1): 89-95, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618930
19.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve
; 65(5): 531-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179231
20.
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Eur J Neurol
; 29(8): 2398-2411, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460302