Detalhe da pesquisa
1.
Chenodeoxycholic acid (CDCA) treatment during pregnancy in women with cerebrotendinous xanthomatosis (CTX): Lessons learned from 19 pregnancies.
Genet Med
; 26(5): 101086, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288684
2.
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
3.
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Neurogenetics
; 24(4): 303-310, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658208
4.
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
5.
Differential gait adaptation patterns in Parkinson's disease - a split belt treadmill pilot study.
BMC Neurol
; 23(1): 279, 2023 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37495943
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.
Neuro-Ophthalmic Phenotype of OPA3.
J Neuroophthalmol
; 42(1): e147-e152, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33870938
8.
Patients' Self-Report and Handwriting Performance Features as Indicators for Suspected Mild Cognitive Impairment in Parkinson's Disease.
Sensors (Basel)
; 22(2)2022 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35062535
9.
Self-motion perception in Parkinson's disease.
Eur J Neurosci
; 53(7): 2376-2387, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141143
10.
Overconfidence in visual perception in parkinson's disease.
Eur J Neurosci
; 53(6): 2027-2039, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368717
11.
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Ann Neurol
; 87(1): 139-153, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658403
12.
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
13.
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
14.
Implicit sequence learning in individuals with Parkinson's disease: The added value of using an ocular version of the serial reaction time (O-SRT) task.
Brain Cogn
; 147: 105654, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33246230
15.
DailyCog: A Real-World Functional Cognitive Mobile Application for Evaluating Mild Cognitive Impairment (MCI) in Parkinson's Disease.
Sensors (Basel)
; 21(5)2021 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33806548
16.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Hum Mutat
; 41(2): 487-501, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692161
17.
Evolution of echovirus 11 in a chronically infected immunodeficient patient.
PLoS Pathog
; 14(3): e1006943, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29554133
18.
Smartphone Based Timed Up and Go Test Can Identify Postural Instability in Parkinson's Disease.
Isr Med Assoc J
; 22(1): 37-42, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31927804
19.
Cancer outcomes among Parkinson's disease patients with leucine rich repeat kinase 2 mutations, idiopathic Parkinson's disease patients, and nonaffected controls.
Mov Disord
; 34(9): 1392-1398, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31348549
20.
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