Detalhe da pesquisa
1.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Hum Mutat
; 43(4): 487-498, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077597
2.
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
3.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat
; 39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30168660
4.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Acta Neuropathol
; 133(4): 517-533, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012042
5.
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Brain
; 139(Pt 3): 674-91, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700687
6.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nat Genet
; 56(3): 395-407, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429495
7.
Response of plasma microRNAs to nusinersen treatment in patients with SMA.
Ann Clin Transl Neurol
; 9(7): 1011-1026, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35584175
8.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nat Commun
; 13(1): 2306, 2022 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35484142
9.
Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population.
J Hum Genet
; 54(2): 98-107, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19158809
10.
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.
PLoS One
; 8(11): e80263, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24282529
11.
Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene.
Psychiatr Genet
; 23(1): 11-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23142968