Detalhe da pesquisa
1.
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
2.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569547
3.
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
4.
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
J Cell Sci
; 127(Pt 13): 2873-84, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24806962
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.
Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders.
Eur Respir J
; 39(5): 1206-12, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22135279
7.
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Hum Mol Genet
; 18(20): 3779-94, 2009 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19602481
8.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976770
9.
Natural evolution of weight status in Duchenne muscular dystrophy: a retrospective audit.
Br J Nutr
; 105(10): 1486-91, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21272404
10.
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Brain Commun
; 3(3): fcab075, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34240052
11.
Congenital immobility and stiffness related to biallelic ATAD1 variants.
Neurol Genet
; 6(6): e520, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33134516
12.
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Neurol Genet
; 6(6): e534, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33659639
13.
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.
Front Pediatr
; 8: 4, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32133329
14.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Neurology
; 95(11): e1512-e1527, 2020 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32796131
15.
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
16.
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
17.
Severe neonatal myasthenia due to maternal anti-MuSK antibodies.
Neuromuscul Disord
; 18(6): 443-6, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18434154
18.
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Ann Neurol
; 62(6): 666-70, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17932957
19.
MFN2, a new gene responsible for mitochondrial DNA depletion.
Brain
; 135(Pt 8): e223, 1-4; author reply e224, 1-3, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22556188
20.
Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses.
Orphanet J Rare Dis
; 13(1): 209, 2018 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30463562