Detalhe da pesquisa
1.
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Hum Mutat
; 34(8): 1111-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606453
2.
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.
Hum Mol Genet
; 20(24): 4879-90, 2011 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21926082
3.
Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle.
Am J Pathol
; 178(1): 273-83, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21224064
4.
Optimization of Internally Deleted Dystrophin Constructs.
Hum Gene Ther Methods
; 27(5): 174-186, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27477497
5.
Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).
Biomolecules
; 5(4): 2758-81, 2015 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26501342
6.
Confirmatory evidence for linkage of relative hand skill to 2p12-q11.
Am J Hum Genet
; 72(2): 499-502, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12596796