Detalhe da pesquisa
1.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
2.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Eur J Hum Genet
; 28(1): 40-49, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31488895
3.
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Hum Mutat
; 29(5): 670-8, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18253926
4.
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
Neurology
; 87(14): 1442-1448, 2016 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27590285