Detalhe da pesquisa
1.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
2.
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Am J Med Genet A
; 182(10): 2272-2283, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776697
3.
Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy.
Mol Ther Nucleic Acids
; 35(2): 102178, 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38617974
4.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
5.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
J Neuromuscul Dis
; 8(4): 633-645, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749658
6.
Daily-life affective instability in emotional distress disorders is associated with function and structure of posterior parietal cortex.
Psychiatry Res Neuroimaging
; 296: 111028, 2020 02 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31911320