Detalhe da pesquisa
1.
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Int J Mol Sci
; 23(15)2022 Jul 31.
Artigo
Inglês
| MEDLINE | ID: mdl-35955641
2.
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Genet Med
; 23(8): 1574-1577, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33927379
3.
Motor axonal neuropathy associated with GNE mutations.
Muscle Nerve
; 63(3): 396-401, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33094863
4.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Eur J Neurol
; 28(6): 2092-2102, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33715265
5.
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Mol Biol Rep
; 48(10): 6999-7006, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34553317
6.
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Hum Mutat
; 41(10): 1797-1810, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32668095
7.
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Nucleic Acids Res
; 46(W1): W545-W553, 2018 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29860484
8.
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Muscle Nerve
; 56(5): 993-997, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28256728
9.
Actionable Genes, Core Databases, and Locus-Specific Databases.
Hum Mutat
; 37(12): 1299-1307, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27600092
10.
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Am J Hum Genet
; 92(2): 271-8, 2013 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-23332920
11.
Refining NGS diagnosis of muscular disorders.
J Neurol Neurosurg Psychiatry
; 92(2): 223-225, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32934002
12.
Respiratory and cardiac function in japanese patients with dysferlinopathy.
Muscle Nerve
; 53(3): 394-401, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26088049
13.
Toward an objective measure of functional disability in dysferlinopathy.
Muscle Nerve
; 53(1): 49-57, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25900324
14.
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.
Hum Mutat
; 36(4): 443-53, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25615407
15.
Identification of splicing defects caused by mutations in the dysferlin gene.
Hum Mutat
; 35(12): 1532-41, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25312915
16.
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
Muscle Nerve
; 50(3): 448-53, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24715573
17.
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
Neurol India
; 62(6): 635-9, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25591676
18.
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
J Neurol
; 2024 Mar 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38517523
19.
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy.
Biomedicines
; 11(5)2023 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37239109
20.
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.
Front Genet
; 14: 1242277, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38155714