Detalhe da pesquisa
1.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167966
2.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol
; 145(4): 479-496, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799992
3.
Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty.
Muscle Nerve
; 63(3): 282-284, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33382457
4.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Neurogenetics
; 13(2): 115-24, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22371254
5.
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Ann Clin Transl Neurol
; 9(8): 1302-1309, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35734998
6.
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
BMC Med Genet
; 12: 87, 2011 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21708040
7.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nat Commun
; 12(1): 1135, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602924
8.
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Neurogenetics
; 11(4): 449-55, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20623375
9.
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.
Mol Genet Genomic Med
; 7(3): e552, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30688039
10.
MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.
J Clin Invest
; 124(6): 2651-67, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24789910
11.
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
Neuromuscul Disord
; 23(12): 975-80, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24128691
12.
Regulation of DMD pathology by an ankyrin-encoded miRNA.
Skelet Muscle
; 1: 27, 2011 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21824387