Detalhe da pesquisa
1.
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Hum Mol Genet
; 27(24): 4263-4272, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30215711
2.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
3.
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Neuromuscul Disord
; 28(9): 741-749, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30131190
4.
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Nat Genet
; 46(2): 188-93, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24336167
5.
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.
Science
; 341(6148): 896-9, 2013 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23929950