Detalhe da pesquisa
1.
Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.
Dysphagia
; 38(6): 1568-1580, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37289231
2.
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
3.
Oral and Swallowing Abilities Tool (OrSAT) in nusinersen treated patients.
Arch Dis Child
; 2022 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577540
4.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Lancet Neurol
; 21(1): 42-52, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34942136
5.
Feeding problems and malnutrition in spinal muscular atrophy type II.
Neuromuscul Disord
; 18(5): 389-93, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18420410
6.
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
Eur J Hum Genet
; 23(11): 1499-504, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712080
7.
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Neuromuscul Disord
; 23(3): 229-38, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23394783
8.
Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.
J Neurol Sci
; 345(1-2): 271-3, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25108819