Search details
1.
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.
Neurobiol Dis
; 188: 106343, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37926171
2.
Complex mosaic structural variations in human fetal brains.
Genome Res
; 30(12): 1695-1704, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33122304
3.
Somatic SNCA Copy Number Variants in Multiple System Atrophy are Related to Pathology and Inclusions.
Mov Disord
; 38(2): 338-342, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36448620
4.
Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease.
Mov Disord
; 36(6): 1456-1460, 2021 06.
Article
in English
| MEDLINE | ID: mdl-34008887
5.
A crowdsourced set of curated structural variants for the human genome.
PLoS Comput Biol
; 16(6): e1007933, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32559231
6.
Somatic mutations in neurodegeneration: An update.
Neurobiol Dis
; 144: 105021, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32712267
7.
Selective vulnerability in α-synucleinopathies.
Acta Neuropathol
; 138(5): 681-704, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31006067
8.
Evolution and clustering of prodromal parkinsonian features in GBA1 carriers.
Mov Disord
; 34(9): 1365-1373, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31251436
9.
Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.
Brain
; 141(8): 2419-2431, 2018 08 01.
Article
in English
| MEDLINE | ID: mdl-29917054
10.
α-Synuclein structural features inhibit harmful polyunsaturated fatty acid oxidation, suggesting roles in neuroprotection.
J Biol Chem
; 292(17): 6927-6937, 2017 04 28.
Article
in English
| MEDLINE | ID: mdl-28232489
11.
Sex Distribution of GBA1 Variants Carriers with Dementia with Lewy Bodies and Parkinson's Disease.
Mov Disord
; 38(11): 2137-2139, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37736925
12.
CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy-like Phenotype.
Mov Disord
; 37(7): 1555-1557, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35510647
13.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Brain
; 139(Pt 7): 1904-18, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27217339
14.
The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein.
J Biol Chem
; 290(4): 2395-404, 2015 Jan 23.
Article
in English
| MEDLINE | ID: mdl-25505181
15.
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.
BMC Med Genet
; 16: 104, 2015 Nov 10.
Article
in English
| MEDLINE | ID: mdl-26554554
16.
Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.
Brain
; 137(Pt 8): 2303-11, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24919969
17.
Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.
Mov Disord
; 29(8): 1060-4, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24752924
18.
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.
Brain
; 136(Pt 12): 3618-24, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24103911
19.
Detection of mosaic and population-level structural variants with Sniffles2.
Nat Biotechnol
; 2024 Jan 02.
Article
in English
| MEDLINE | ID: mdl-38168980
20.
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Neuron
; 2024 Apr 24.
Article
in English
| MEDLINE | ID: mdl-38701790