Detalhe da pesquisa
1.
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Eur Heart J
; 44(48): 5064-5073, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639473
2.
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
3.
Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
Ann Neurol
; 89(2): 280-292, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159473
4.
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
5.
Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.
BJOG
; 129(11): 1879-1886, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35486001
6.
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Eur Heart J
; 42(20): 1976-1984, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748842
7.
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
8.
Dystrophin's central domain forms a complex filament that becomes disorganized by in-frame deletions.
J Biol Chem
; 293(18): 6637-6646, 2018 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29535188
9.
Limb girdle muscular dystrophy due to mutations in POMT2.
J Neurol Neurosurg Psychiatry
; 89(5): 506-512, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29175898
10.
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Clin Chem Lab Med
; 56(5): 728-738, 2018 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29613853
11.
Becker muscular dystrophy severity is linked to the structure of dystrophin.
Hum Mol Genet
; 24(5): 1267-79, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25348330
12.
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
Muscle Nerve
; 56(6): 1096-1100, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28187523
13.
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Prenat Diagn
; 36(5): 397-406, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26850935
14.
Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation.
Hum Mol Genet
; 21(15): 3449-60, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22589245
15.
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
J Pediatr
; 204: 305-313.e14, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579468
16.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Hum Mutat
; 34(11): 1449-57, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913485
17.
A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.
Brain
; 135(Pt 2): 483-92, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22240777
18.
Diagnosis and management of Becker muscular dystrophy: the French guidelines.
J Neurol
; 270(10): 4763-4781, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422773
19.
How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.
Neuromuscul Disord
; 33(5): 367-370, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996638
20.
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.
PLoS One
; 18(4): e0280976, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37093806