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 ZFull 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 ZLRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder. Parkinsonism and Related Disorders. 2018 PubMed

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysms in the French-Canadian population.

Zhou S, Gan-Or Z, Ambalavanan A, Xie P, Bourassa CV, Strong S, Ross JP, Dionne-Laporte A, Spiegelman D, Dupré N, Xiong L, Dion PA and Rouleau GA. Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysms in the French-Canadian population. Scientific Reports. 2018. PubMed

Sleep disorders and Parkinson disease; lessons from genetics.

Gan-Or Z, Alcalay RN, Rouleau GA and Postuma RB. Sleep disorders and Parkinson disease; lessons from genetics. Sleep Medicine Reviews. 2018. Review. PubMed

Alpha galactosidase A activity in Parkinson’s disease. 

Alcalay RN, Wolf P, Levy O, Kang UJ, Waters C, Fahn S, Ford B, Kuo SH, Vanegas N, Shah I, Liong C, Narayan S, Pauciulo M, Nichols W, Gan-Or Z, Rouleau G, Chung W, Oliva P, Keutzer J, Marder K and Zhang X. Alpha galactosidase A activity in Parkinson’s disease. Neurobiology of Disease. 2018; PubMed

Mohtashami S, He Q, Ruskey JA, Zhou S, Dion PA, Allen RP, Earley CJ, Fon EA, Xiong L, Dupre N, Dauvilliers Y, Rouleau GA and Gan-Or ZTOX3 variants are involved in restless legs syndrome and Parkinson disease with opposite effects. Journal of Molecular Neuroscience. 2018; PubMed

Association study of Essential Tremor genetic loci in Parkinson’s disease.

Ross JP, Mohtashami S, Leveille E, Johnson AM, Xiong L, Dion PA, Fon EA, Dauvilliers Y, Dupre N, Rouleau GA and Gan-Or Z. Association study of Essential Tremor genetic loci in Parkinson’s disease. Neurobiology of Aging. 2018. PubMed

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson’s disease.

Blauwendraat C, Kia DA, Pihlstrom L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C, International Parkinson’s Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW and Wood NW. Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson’s disease. Neurobiology of Aging. 2017. PubMed

POLR3A variants in hereditary spastic paraplegia and ataxia.

Gauquelin L, Tetreault M, Thiffault I, Saunders C, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupre N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z and Bernard G. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain. 2017. PubMed

Tandem mass spectrometry assay of β-Glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.

Wolf P, Alcalay RN, Liong C, Cullen E, Paciulo MW, Nichols WC, Gan-Or Z, Chung WK, Faulkner T, Bentis C, Pomponio RJ, Ma X, Zhang XK, Keutzer JM and Oliva P. Tandem mass spectrometry assay of β-Glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay. Molecular Genetics and Metabolism. 2017. PubMed