Search details
1.
DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.
Mov Disord
; 39(2): 249-258, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38014588
2.
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Brain
; 146(7): 2753-2765, 2023 07 03.
Article
in English
| MEDLINE | ID: mdl-36478228
3.
GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.
BMC Genomics
; 24(1): 322, 2023 Jun 13.
Article
in English
| MEDLINE | ID: mdl-37312046
4.
Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism.
Mov Disord
; 38(10): 1837-1849, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37482924
5.
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
Ann Neurol
; 90(1): 76-88, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33938021
6.
Polygenic risk of Alzheimer's disease in the Faroe Islands.
Eur J Neurol
; 29(8): 2192-2200, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35384166
7.
Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.
Brain
; 143(4): 1190-1205, 2020 04 01.
Article
in English
| MEDLINE | ID: mdl-32201884
8.
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Am J Hum Genet
; 101(1): 65-74, 2017 Jul 06.
Article
in English
| MEDLINE | ID: mdl-28669405
9.
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Am J Hum Genet
; 101(2): 300-310, 2017 Aug 03.
Article
in English
| MEDLINE | ID: mdl-28777935
10.
Genetic Modifiers of LRRK2 Parkinson's Disease: A Replication Study in Arab-Berbers.
Mov Disord
; 39(4): 751-753, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38291980
11.
Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport.
Muscle Nerve
; 60(3): 311-314, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31241196
12.
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Eur J Pediatr
; 178(8): 1207-1218, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-31172278
13.
Lovastatin protects neurite degeneration in LRRK2-G2019S parkinsonism through activating the Akt/Nrf pathway and inhibiting GSK3ß activity.
Hum Mol Genet
; 25(10): 1965-1978, 2016 05 15.
Article
in English
| MEDLINE | ID: mdl-26931464
14.
DNAJC12 and dopa-responsive nonprogressive parkinsonism.
Ann Neurol
; 82(4): 640-646, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28892570
15.
Establishing diagnostic criteria for Perry syndrome.
J Neurol Neurosurg Psychiatry
; 89(5): 482-487, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29089398
16.
The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.
Mov Disord
; 33(2): 196-207, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29315801
17.
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
Brain
; 140(1): 98-117, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27807026
18.
Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
J Genet Couns
; 2018 Jul 23.
Article
in English
| MEDLINE | ID: mdl-30033481
19.
LRRK2 overexpression alters glutamatergic presynaptic plasticity, striatal dopamine tone, postsynaptic signal transduction, motor activity and memory.
Hum Mol Genet
; 24(5): 1336-49, 2015 Mar 01.
Article
in English
| MEDLINE | ID: mdl-25343991
20.
α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Ann Neurol
; 79(6): 991-9, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-27091628