Rudakou U, Ouled Amar Bencheikh B, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Liong C, Fahn S, Waters C, Monchi O, Fon EA, Dauvilliers Y, Alcalay RN, Dupré N and Gan-Or Z. Common and rare GCH1 variants are associated with Parkinson disease. Neurobiology of Aging. 2018. PubMed
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Sequencing of the GBA co-activator, Saposin C, in Parkinson disease.
Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN and Gan-Or Z. Sequencing of the GBA co-activator, Saposin C, in Parkinson disease. Neurobiology of Aging. 2018. PubMed
The GBA p.Trp378Gly mutation is a founder French-Canadian mutation causing Gaucher disease and synucleinopathies.
Ruskey JA, Zhou S, Santiago R, Franche LA, Alam A, Foncière L, Spiegelman D, Fon EA, Trempe JF, Kalia LV, Postuma RB, Dupre N, Rivard GE, Assouline S, Amato D and Gan-Or Z. The GBA p.Trp378Gly mutation is a founder French-Canadian mutation causing Gaucher disease and synucleinopathies. Clinical genetics. 2018. PubMed
GBA-associated Parkinson’s disease and other synucleinopathies.
Gan-Or Z, Liong C and Alcalay RN. GBA-associated Parkinson’s disease and other synucleinopathies. Current Neurology and Neuroscience Reports. 2018. Review. PubMed
Analysis of loss of function variants reveals that LRRK2 haploinsufficiency is not a cause of Parkinson’s Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrom L, Gibbs RJ, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez D, Chung SJ, Goldwurm S, Toft M, Schulte C, International Parkinson’s Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB and Cookson MR. Analysis of loss of function variants reveals that LRRK2 haploinsufficiency is not a cause of Parkinson’s Disease. JAMA Neurology. 2018. PubMed
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease.
Ruskey JA, Greenbaum L, Roncière L, Alam A, Spiegelman D, Liong C, Levy OA, Waters C, Fahn S, Marder KS, Chung W, Yahalom G, Israeli-Korn S, Livneh V, Fay-Karmon T, Alcalay RN, Hassin-Baer S and Ziv Gan-Or. Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease. European Journal of Medical Genetics. 2018. PubMed
Parkinson’s disease phenotype is influenced by the mutation in the GBA gene.
Thaler A, Bregman N, Gurevich T, Shiner T, Dror Y, Zmira O, Gan-Or Z, Orr-Urtreger A, Giladi N and Mirelman A. Parkinson’s disease phenotype is influenced by the mutation in the GBA gene. Parkinsonism and Related Disorders. 2018. PubMed
Longstanding disease-free survival in idiopathic REM sleep behavior disorder: Is neurodegeneration inevitable?
Yao C, Fereshtehnejad SM, Dawson BK, Pelletier A, Gan-Or Z, Gagnon JF, Montplaisir JY, and Postuma RB. Longstanding disease-free survival in idiopathic REM sleep behavior disorder: Is neurodegeneration inevitable? Parkinsonism and Related Disorders. 2018. PubMed
Full sequencing and haplotype analysis of MAPT in Parkinson disease and REM sleep behavior disorder
Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, AmbalavananA, Ross JP, Bourassa CV, Spiegelman D, Laurent SB, Stefani A, Charley Monaca C, Cochen De Cock V, Boivin M, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Labbe C, Ferman TJ, Dion PA, Fan D, Desautels A, Gagnon JF, Dupré N, Fon EA, Montplaisir JY, Boeve BF, Postuma RB, Rouleau GA, Ross OA and Gan-Or Z. Full sequencing and haplotype analysis of MAPT in Parkinson disease and REM sleep behavior disorder. Movement Disorders. 2018; PubMed
LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.
Ouled Amar Bencheikh B, Ruskey JA, Arnulf I, Dauvilliers Y, Charley Monaca C, Cochen De Cock V, Gagnon JF, Spiegelman D, Hu MTM, Högl B, Stefani A, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Oertel W, Montplaisir JY, Postuma RB, Rouleau GA and Gan-Or Z. LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder. Parkinsonism and Related Disorders. 2018 PubMed