Detalhe da pesquisa
1.
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv).
BMC Pediatr
; 23(1): 563, 2023 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37968589
2.
Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients.
Int J Mol Sci
; 22(23)2021 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884796
3.
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Arch Pediatr
; 31(2): 117-123, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135619
4.
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
J Neuropathol Exp Neurol
; 80(10): 955-965, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498054
5.
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
6.
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
7.
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Orphanet J Rare Dis
; 15(1): 148, 2020 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532349
8.
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.
Eur J Paediatr Neurol
; 23(3): 448-455, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862413
9.
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
10.
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.
Pathol Res Pract
; 204(6): 401-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18276083
11.
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
J Neuromuscul Dis
; 5(2): 257-260, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29614691
12.
Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies.
J Clin Sleep Med
; 13(9): 1105-1108, 2017 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558865
13.
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Orphanet J Rare Dis
; 11: 26, 2016 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27004399
14.
Midbrain disconnection: an aetiology of severe central neonatal hypotonia.
Eur J Paediatr Neurol
; 9(6): 419-22, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16055359
15.
Familial rectal pain: a familial autonomic disorder as a cause of paroxysmal attacks in the newborn baby.
Epileptic Disord
; 7(4): 360-2, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16338680
16.
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.
J Neuromuscul Dis
; 2(3): 269-279, 2015 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858743
17.
Hereditary sensory neuropathy with spastic paraplegia.
Eur J Paediatr Neurol
; 8(2): 95-9, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15253057
18.
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
Neurology
; 82(21): 1919-26, 2014 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24789864
19.
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Eur J Hum Genet
; 21(6): 602-12, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23073310
20.
PRRT2 mutations cause hemiplegic migraine.
Neurology
; 79(21): 2122-4, 2012 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23077016