Detalhe da pesquisa
1.
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Mov Disord
; 38(11): 2103-2115, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37605305
2.
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Hum Mutat
; 41(8): 1394-1406, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32419253
3.
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
4.
Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.
Muscle Nerve
; 52(5): 895-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25959956
5.
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
J Clin Rheumatol
; 26(5): e125-e127, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801335
6.
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Orphanet J Rare Dis
; 19(1): 24, 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38268028
7.
Juvenile Dermatomyositis in Afro-Caribbean children: a cohort study in the French West Indies.
Pediatr Rheumatol Online J
; 21(1): 113, 2023 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37805487
8.
SOD1-related ALS with anticipation in a large family from Martinique.
Amyotroph Lateral Scler Frontotemporal Degener
; 22(7-8): 545-551, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33754899
9.
Antisignal recognition particle antibodies-related cardiomyopathy.
Circulation
; 127(5): e434-6, 2013 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23381964
10.
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
Ann Neurol
; 63(3): 329-37, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18300303
11.
X-linked myotubular myopathy: A prospective international natural history study.
Neurology
; 92(16): e1852-e1867, 2019 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30902907
12.
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
13.
Les journées caribéennes des maladies rares et orphelines 2022.
Med Sci (Paris)
; 39 Hors série n° 1: 67-71, 2023 11.
Artigo
em Francês
| MEDLINE | ID: mdl-37975776
14.
Phenotypic and genotypic studies of ALS cases in ALS-SMA families.
Amyotroph Lateral Scler Frontotemporal Degener
; 19(5-6): 432-437, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29493298
15.
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
PLoS One
; 11(2): e0148264, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26849574
16.
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
Neuromuscul Disord
; 14(1): 10-8, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14659407
17.
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Acta Neuropathol Commun
; 2: 44, 2014 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24725366
18.
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin.
Medicine (Baltimore)
; 93(3): 150-157, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24797170
19.
[An overview of Duchenne muscular dystrophy in Martinique]. / La dystrophie musculaire de Duchenne en Martinique - État des lieux.
Med Sci (Paris)
; 34 Hors série n°2: 45-48, 2018 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-30418149
20.
[Episodes of recurrent pneumothorax in a patient with collagen VI-related congenital muscular dystrophy]. / Pneumothorax récidivants chez un patient atteint de dystrophie musculaire congénitale avec déficit en collagène VI.
Med Sci (Paris)
; 33 Hors série n°1: 27-29, 2017 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-29139382