Detalhe da pesquisa
1.
Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.
Ann Neurol
; 87(4): 584-598, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31976583
2.
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Ann Neurol
; 87(1): 139-153, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658403
3.
Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder.
Mov Disord
; 36(1): 235-240, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001463
4.
Oligogenicity, C9orf72 expansion, and variant severity in ALS.
Neurogenetics
; 21(3): 227-242, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385536
5.
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet
; 98(5): 1038-1046, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153400
6.
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Mov Disord
; 34(4): 526-535, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788890
7.
Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.
Mov Disord
; 33(6): 1016-1020, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29756641
8.
Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.
Mov Disord
; 32(2): 292-295, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158909
9.
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet
; 98(6): 1271, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259058
10.
Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder.
J Parkinsons Dis
; 12(1): 333-340, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34690151
11.
LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease.
Neurobiol Aging
; 103: 142.e1-142.e5, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33781610
12.
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
Neurobiol Aging
; 100: 119.e7-119.e13, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239198
13.
Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder.
Neurology
; 96(10): e1402-e1412, 2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33397775
14.
Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.
Neurobiol Aging
; 93: 143.e1-143.e4, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371106
15.
Analysis of common and rare VPS13C variants in late-onset Parkinson disease.
Neurol Genet
; 6(1): 385, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042909
16.
Common and rare GCH1 variants are associated with Parkinson's disease.
Neurobiol Aging
; 73: 231.e1-231.e6, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30314816
17.
Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.
Mol Neurobiol
; 56(6): 4317-4321, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30315477
18.
No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor.
Neurol Genet
; 3(5): e195, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30584593
19.
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.
Neurobiol Aging
; 37: 209.e17-209.e21, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26493020
20.
The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.
Neurobiol Aging
; 43: 180.e7-180.e13, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27131830