Detalhe da pesquisa
1.
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Hum Mutat
; 36(12): 1159-63, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26310427
2.
Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.
J Hum Genet
; 60(3): 151-5, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25537791
3.
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Brain
; 136(Pt 2): 508-21, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23413262
4.
Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene.
Child Neurol Open
; 9: 2329048X221097518, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35557983
5.
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.
Neurol Genet
; 5(2): e315, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31041397
6.
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Skelet Muscle
; 8(1): 17, 2018 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29855340
7.
A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy.
Neurol Genet
; 6(1): e388, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042916
8.
A lymphocyte-generated fragment of vasoactive intestinal peptide with VPAC1 agonist activity and VPAC2 antagonist effects.
J Pharmacol Exp Ther
; 306(2): 638-45, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12750439