Detalhe da pesquisa
1.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24319099
2.
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
Muscle Nerve
; 54(2): 192-202, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-26670690
3.
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Hum Mol Genet
; 22(8): 1483-92, 2013 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23236030
4.
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
Muscle Nerve
; 52(5): 728-35, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25808192
5.
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
J Med Genet
; 50(2): 91-8, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23339108
6.
[What a tracheostomy changes in a child with a neuromuscular disease]. / Les principaux changements apportés par la trachéotomie chez des enfants atteints de maladies neuromusculaires.
Rech Soins Infirm
; (114): 46-57, 2013 Sep.
Artigo
Francês
| MEDLINE | ID: mdl-24236398
7.
Tracheotomy and children with spinal muscular atrophy type 1: ethical considerations in the French context.
Nurs Ethics
; 19(3): 408-18, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22323397
8.
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
Inglês
| MEDLINE | ID: mdl-19602481
9.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20976770
10.
Riluzole pharmacokinetics in young patients with spinal muscular atrophy.
Br J Clin Pharmacol
; 71(3): 403-10, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21284699
11.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Neurology
; 95(11): e1512-e1527, 2020 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-32796131
12.
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Ann Neurol
; 64(2): 177-86, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-18551513
13.
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Hum Mutat
; 29(5): 670-8, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18253926
14.
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Neuromuscul Disord
; 18(1): 45-51, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17869517
15.
Diaphragmatic dysfunction in SEPN1-related myopathy.
Neuromuscul Disord
; 27(8): 747-755, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28606403
16.
Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy.
Pediatr Neurol
; 73: 78-87.e1, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28668232
17.
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Brain Dev
; 28(4): 232-42, 2006 May.
Artigo
Inglês
| MEDLINE | ID: mdl-16368217
18.
Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children.
J Neuromuscul Dis
; 2(4): 453-462, 2015 Nov 21.
Artigo
Inglês
| MEDLINE | ID: mdl-27858747
19.
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.
Neuromuscul Disord
; 12(5): 466-75, 2002 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-12031620
20.
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Neuromuscul Disord
; 24(11): 993-8, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25070542