Detalhe da pesquisa
1.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696726
2.
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
J Med Genet
; 56(9): 590-601, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31010831
3.
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
J Med Genet
; 55(7): 469-478, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29563141
4.
Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria.
Muscle Nerve
; 57(2): 217-221, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407266
5.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24692096
6.
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Eur J Hum Genet
; 32(1): 37-43, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337091
7.
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.
J Cachexia Sarcopenia Muscle
; 13(1): 621-635, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859613
8.
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.
Hum Mutat
; 31(1): E1110-25, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19953646
9.
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Neuromuscul Disord
; 29(2): 114-126, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30598237
10.
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Neurology
; 92(8): e852-e865, 2019 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30659139
11.
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.
Epileptic Disord
; 20(4): 289-294, 2018 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30078772
12.
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
J Neurol
; 264(8): 1791-1803, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28712002
13.
A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child: Remaining Challenges for Diagnosis, Nosologic Classification, and Therapeutic Course.
Child Neurol Open
; 2(4): 2329048X15609053, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503595
14.
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis.
Clin Chim Acta
; 448: 146-9, 2015 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26148721
15.
Predicting intraoperative feasibility of combined TES-mMEP and cSSEP monitoring during scoliosis surgery based on preoperative neurophysiological assessment.
Spine J
; 14(7): 1214-20, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24200409