Detalhe da pesquisa
1.
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
Neuropathol Appl Neurobiol
; 47(2): 283-296, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32896923
2.
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Acta Neuropathol
; 139(3): 565-582, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31897643
3.
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.
Clin Genet
; 88(6): 573-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25529940
4.
Usefulness of pulmonary function tests and blood gases in acute neuromuscular respiratory failure.
Eur J Neurol
; 19(3): 452-6, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21974753
5.
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).
Neurologia (Engl Ed)
; 37(3): 216-228, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35241415
6.
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Acta Neuropathol Commun
; 7(1): 30, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30823891
7.
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Neuromuscul Disord
; 28(10): 828-836, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166250