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 Z. TOX3 variants are involved in restless legs syndrome and Parkinson disease with opposite effects. Journal of Molecular Neuroscience. 2018; PubMed
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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
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.
Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Allen RP, Earley CJ, Ondo WG, Xiong L, Montplaisir J, Gan-Or Z, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AF, Shah SH, Gieger C, Peters A, Rouleau GA, Berger K, Oexle K, Di Angelantonio E, Hinds DA, Müller-Myhsok B and Winkelmann J. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. Lancet Neurology 2017. PubMed
RIC3 variants are not associated with Parkinson’s disease in French-Canadians and French.
Ross JP, Dupré N, Dauvilliers Y, Strong S, Dionne-Laporte A, Dion PA, Rouleau GA and Gan-Or Z. RIC3 variants are not associated with Parkinson’s disease in French-Canadians and French. Neurobiology of Aging. 2017. PubMed
Heterozygous PINK1 p.G411S in rapid eye movement sleep behavior disorder.
Gan-Or Z, Ruskey JA, Spiegelman D, Arnulf I, Dauvilliers Y, Högl B, Monaca CC, Postuma RB, Montplaisir JY and Rouleau GA. Heterozygous PINK1 p.G411S in rapid eye movement sleep behavior disorder. Brain. 2017. (letter). PubMed
KCNA2 mutations are rare in hereditary spastic paraplegia.
Gan-Or Z, Yoon G, Suchowersky O, Dupré N and Rouleau GA. KCNA2 mutations are rare in hereditary spastic paraplegia. Annals of Neurology. 2017. PubMed
Clinical and Genetic Study of Hereditary Spastic Paraplegia in Canada.
Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Provencher P, Boycott K, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA and Yoon G. Clinical and Genetic Study of Hereditary Spastic Paraplegia in Canada. Neurology Genetics. 2017. PubMed