Detalhe da pesquisa
1.
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Nat Rev Genet
; 24(9): 642-658, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37024676
2.
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Proc Natl Acad Sci U S A
; 119(5)2022 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35074870
3.
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Ann Neurol
; 93(5): 1012-1022, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36695634
4.
Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups.
Brain
; 145(5): 1757-1762, 2022 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35381062
5.
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
Brain
; 145(8): 2671-2676, 2022 08 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35521889
6.
Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats.
J Neurol Neurosurg Psychiatry
; 2022 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-36008116
7.
Systematic evaluation of genetic mutations in ALS: a population-based study.
J Neurol Neurosurg Psychiatry
; 2022 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35896380
8.
GRN Mutations Are Associated with Lewy Body Dementia.
Mov Disord
; 37(9): 1943-1948, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35810449
9.
Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis.
Acta Neuropathol
; 142(6): 985-1001, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34618203
10.
Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis.
Proc Natl Acad Sci U S A
; 119(36): e2209096119, 2022 09 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35969799
11.
The G2385R risk factor for Parkinson's disease enhances CHIP-dependent intracellular degradation of LRRK2.
Biochem J
; 474(9): 1547-1558, 2017 04 24.
Artigo
Inglês
| MEDLINE | ID: mdl-28320779
12.
Health-Related Quality of Life Among Young Children With Cochlear Implants and Developmental Disabilities.
Ear Hear
; 38(4): 399-408, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28207575
13.
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.
Proc Natl Acad Sci U S A
; 111(7): 2626-31, 2014 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-24510904
14.
Arsenite stress down-regulates phosphorylation and 14-3-3 binding of leucine-rich repeat kinase 2 (LRRK2), promoting self-association and cellular redistribution.
J Biol Chem
; 289(31): 21386-400, 2014 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24942733
15.
A direct interaction between leucine-rich repeat kinase 2 and specific ß-tubulin isoforms regulates tubulin acetylation.
J Biol Chem
; 289(2): 895-908, 2014 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-24275654
16.
Cochlear implantation among deaf children with additional disabilities: parental perceptions of benefits, challenges, and service provision.
J Deaf Stud Deaf Educ
; 20(1): 41-50, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25225328
17.
The origins and uses of mouse outbred stocks.
Nat Genet
; 37(11): 1181-6, 2005 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-16254564
18.
Association of cardiovascular disease management drugs with Lewy body dementia: a case-control study.
Brain Commun
; 6(1): fcad346, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38162907
19.
Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.
NPJ Parkinsons Dis
; 10(1): 39, 2024 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38378815
20.
Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies.
Commun Biol
; 7(1): 35, 2024 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38182665