Detalhe da pesquisa
1.
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Brain
; 146(5): 1859-1872, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36370000
2.
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Neurogenetics
; 24(4): 303-310, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658208
3.
Association of Rare Variants in ARSA with Parkinson's Disease.
Mov Disord
; 38(10): 1806-1812, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37381728
4.
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.
Mol Psychiatry
; 27(3): 1435-1447, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34799694
5.
Exercise induced muscle blood flow is decreased in Charcot-Marie-Tooth disease type 1 polyneuropathy: a power Doppler analysis.
Eur J Neurol
; 30(7): 1991-2000, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36916670
6.
Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.
Brain
; 144(2): 462-472, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349842
7.
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.
J Hum Genet
; 66(3): 339-343, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948840
8.
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Ann Neurol
; 87(1): 139-153, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658403
9.
Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.
Mov Disord
; 36(1): 178-187, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32970363
10.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Brain
; 143(1): 234-248, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31755958
11.
The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters.
Fetal Diagn Ther
; 48(2): 140-148, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33352557
12.
Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.
Muscle Nerve
; 61(3): 395-400, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31837156
13.
The yield of chromosomal microarray testing for cases of abnormal fetal head circumference.
J Perinat Med
; 48(6): 553-558, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721143
14.
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
15.
The role of exposure to pesticides in the etiology of Parkinson's disease: a 18F-DOPA positron emission tomography study.
J Neural Transm (Vienna)
; 126(2): 159-166, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30426251
16.
The impact of early versus late levodopa administration.
J Neural Transm (Vienna)
; 124(4): 471-476, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28004202
17.
Ethnicity/culture modulates the relationships of the haptoglobin (Hp) 1-1 phenotype with cognitive function in older individuals with type 2 diabetes.
Int J Geriatr Psychiatry
; 31(5): 494-501, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26388309
18.
Multipolar Electrograms: A New Configuration That Increases the Measurement Accuracy of Intracardiac Signals.
JACC Clin Electrophysiol
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38752962
19.
Are LRRK2 p.G2019S or GBA1 variants associated with long-term outcomes of deep brain stimulation for Parkinson's disease?
Parkinsonism Relat Disord
; : 106008, 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242744
20.
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Res Sq
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562709