Detalhe da pesquisa
1.
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
Brain
; 145(8): 2671-2676, 2022 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35521889
2.
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Nature
; 488(7412): 499-503, 2012 Aug 23.
Artigo
Inglês
| MEDLINE | ID: mdl-22801503
3.
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
Nat Commun
; 15(1): 2497, 2024 Mar 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38509062
4.
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
Nat Genet
; 2024 Jun 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38858457
5.
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
bioRxiv
; 2023 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37398081
6.
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
Cell Rep
; 39(1): 110598, 2022 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35385738
7.
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Ann Neurol
; 68(1): 102-7, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20582942
8.
Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.
PLoS One
; 8(4): e60788, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23577159
9.
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
Neurobiol Aging
; 34(6): 1708.e1-6, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23141414