Detalhe da pesquisa
1.
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
Hum Mol Genet
; 33(9): 768-786, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280232
2.
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
Hum Mol Genet
; 32(2): 333-350, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35994048
3.
Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.
Int J Mol Sci
; 22(15)2021 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34361091
4.
A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.
Clin Neurol Neurosurg
; 237: 108158, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38330802
5.
Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.
Acta Myol
; 41(4): 201-206, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793649
6.
Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.
Stem Cell Res
; 65: 102946, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36272304