Search details
1.
Direct observation of the interconversion of normal and toxic forms of α-synuclein.
Cell
; 149(5): 1048-59, 2012 May 25.
Article
in English
| MEDLINE | ID: mdl-22632969
2.
LRRK2 activation controls the repair of damaged endomembranes in macrophages.
EMBO J
; 39(18): e104494, 2020 09 15.
Article
in English
| MEDLINE | ID: mdl-32643832
3.
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Brain
; 145(12): 4349-4367, 2022 12 19.
Article
in English
| MEDLINE | ID: mdl-36074904
4.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35986737
5.
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
Ann Neurol
; 90(2): 193-202, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34184781
6.
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Mov Disord
; 37(1): 148-161, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34622992
7.
The role of body fat in multiple sclerosis susceptibility and severity: A Mendelian randomisation study.
Mult Scler
; 28(11): 1673-1684, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35575213
8.
Mendelian Randomisation Finds No Causal Association between Urate and Parkinson's Disease Progression.
Mov Disord
; 36(9): 2182-2187, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34056740
9.
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Mov Disord
; 36(1): 251-255, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33026126
10.
Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease.
Mov Disord
; 36(2): 424-433, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33111402
11.
The influence of microsatellite polymorphisms in sex steroid receptor genes ESR1, ESR2 and AR on sex differences in brain structure.
Neuroimage
; 221: 117087, 2020 11 01.
Article
in English
| MEDLINE | ID: mdl-32593802
12.
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Am J Hum Genet
; 100(6): 969-977, 2017 Jun 01.
Article
in English
| MEDLINE | ID: mdl-28575651
13.
Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.
Brief Bioinform
; 19(2): 286-302, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-27881428
14.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31187503
15.
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Int J Mol Sci
; 21(7)2020 Mar 30.
Article
in English
| MEDLINE | ID: mdl-32235485
16.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Am J Hum Genet
; 98(4): 763-71, 2016 Apr 07.
Article
in English
| MEDLINE | ID: mdl-27058447
17.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet
; 98(3): 500-513, 2016 Mar 03.
Article
in English
| MEDLINE | ID: mdl-26942284
18.
Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children.
Am J Hum Genet
; 98(6): 1092-1100, 2016 Jun 02.
Article
in English
| MEDLINE | ID: mdl-27236921
19.
Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease.
Ann Neurol
; 84(2): 191-199, 2018 08.
Article
in English
| MEDLINE | ID: mdl-30014513
20.
The Parkinson's Disease Mendelian Randomization Research Portal.
Mov Disord
; 34(12): 1864-1872, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31659794