Detalhe da pesquisa
1.
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
Hum Mol Genet
; 29(13): 2200-2217, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504093
2.
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.
Brain
; 140(4): 887-897, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334866
3.
Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP.
J Neurol Neurosurg Psychiatry
; 92(9): 1022-1024, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33727253
4.
Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability.
Cell Rep Med
; 4(12): 101308, 2023 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086378
5.
The Role of Mitochondrial Dysfunction and ER Stress in TDP-43 and C9ORF72 ALS.
Front Cell Neurosci
; 15: 653688, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33867942
6.
Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.
Stem Cell Reports
; 14(5): 892-908, 2020 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330447