Detalhe da pesquisa
1.
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
J Med Genet
; 60(10): 1021-1025, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849228
2.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
3.
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
em Inglês
| MEDLINE | ID: mdl-35955641
4.
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Genet Med
; 23(8): 1574-1577, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33927379
5.
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Eur J Neurol
; 28(6): 2092-2102, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715265
6.
First characterization of congenital myasthenic syndrome type 5 in North Africa.
Mol Biol Rep
; 48(10): 6999-7006, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34553317
7.
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Hum Mutat
; 41(10): 1797-1810, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668095
8.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876365
9.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167850
10.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
11.
Direct evidence for the interaction of stathmin along the length and the plus end of microtubules in cells.
FASEB J
; 30(9): 3202-15, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27284003
12.
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
em Inglês
| MEDLINE | ID: mdl-28256728
13.
Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor.
PLoS Genet
; 10(2): e1004081, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24516396
14.
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.
Genet Med
; 23(10): 2003-2004, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34079076
15.
Refining NGS diagnosis of muscular disorders.
J Neurol Neurosurg Psychiatry
; 92(2): 223-225, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934002
16.
Significant contribution of intragenic deletions to ARID1B mutation spectrum.
Genet Med
; 21(11): 2654-2655, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31105273
17.
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585796
18.
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
J Neurol
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38517523
19.
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Sci Transl Med
; 16(741): eadg2841, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569017
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
em Inglês
| MEDLINE | ID: mdl-38155714