Detalhe da pesquisa
1.
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.
J Neurol Neurosurg Psychiatry
; 91(11): 1166-1174, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917822
2.
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Int J Mol Sci
; 21(7)2020 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32290091
3.
Influence of treatments in multiple sclerosis disability: a cohort study.
Mult Scler
; 21(4): 433-41, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25257611
4.
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
Acta Myol
; 32(1): 7-17, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23853504
5.
Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation.
Muscle Nerve
; 46(2): 187-92, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22806367
6.
Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype?
Muscle Nerve
; 44(5): 826-8, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22006699
7.
Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5.
Muscle Nerve
; 43(5): 688-93, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21462202
8.
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
Muscle Nerve
; 41(4): 458-63, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19882644
9.
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Sci Rep
; 10(1): 21648, 2020 12 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33303865
10.
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin.
Muscle Nerve
; 49(6): 928-30, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375490
11.
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
Adv Ther
; 36(5): 1177-1189, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879255
12.
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.
Neuromuscul Disord
; 26(1): 16-20, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26652229
13.
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.
Neuromuscul Disord
; 22(2): 152-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21993399
14.
Absence of histological myopathy in chronic myeloid leukemia patients complaining of muscle spasms and myalgia during treatment with nilotinib.
Leuk Res
; 36(9): e206-8, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22742815