Yi W, MacDougall EJ, Tang MY, Krahn AI, Gan-Or Z, Trempe JF and Fon EA. The landscape of parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson’s disease. Human Molecular Genetics. 2019. PubMed, Preprint
Blog
Parkinson disease age at onset GWAS: defining heritability, genetic loci and α-synuclein mechanisms.
Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrom L, Simon-Sanchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, Gibbs JR, Hernandez DG, Scholz SW, Jankovic J, Shulman LM, Lesage S, Corvol JC, Brice A, van Hilten JJ, Marinus J, The 23andMe Research Team, Tienari P, Majamaa K, Toft M, Grosset DG, Gasser T, Heutink P, Shulman JM, Wood N, Hardy J, Morris HR, Hinds DA, Gratten J, Visscher PM, Gan-Or Z, Nalls MA, Singleton AB, for the International Parkinson’s Disease Genomics Consortium. Parkinson disease age at onset GWAS: defining heritability, genetic loci and α-synuclein mechanisms. Movement Disorders. 2019. PubMed, Preprint
Dystonia; a roadmap is needed for future genetic studies.
Gan-Or Z, Mencacci NE and Nalls MA. Dystonia; a roadmap is needed for future genetic studies. Parkinsonism and Related Disorders. 2018. Editorial. PubMed
Triple A syndrome presenting as complicated hereditary spastic paraplegia
Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G and Gan-Or Z. Triple A syndrome presenting as complicated hereditary spastic paraplegia. Molecular Genetics and Genomics in Medicine. 2018. PubMed
Screening of novel Restless Legs Syndrome genes in French-Canadian families
Akçimen F, Spiegelman D, Dionne-Laporte A, Gan-Or Z, Dion PA and Rouleau GA. Screening of novel Restless Legs Syndrome genes in French-Canadian families. Neurology Genetics. 2018. PubMed
CAPN1 mutations: Expanding the CAPN1-related phenotype: from hereditary spastic paraparesis to spastic ataxia.
Shetty A, Gan-Or Z, Ashtiania S, Ruskey JA, van de Warrenburge B, Wassenberge T, Kamsteegf EJ, Rouleau GA and Suchowersky O. CAPN1 mutations: Expanding the CAPN1-related phenotype: from hereditary spastic paraparesis to spastic ataxia. European Journal of Medical Genetics. 2018. PubMed
Carriers of both GBA and LRRK2 mutations compared to carriers of either in Parkinson’s disease; risk estimates and genotype phenotype correlations.
Yahalom G, Greenbaum L, Israeli-Korn S, Fay-Karmon T, Livneh V, Ruskey JA, Roncière L, Alam A, Gan-Or Z and Hassin-Baer S. Carriers of both GBA and LRRK2 mutations compared to carriers of either in Parkinson’s disease; risk estimates and genotype phenotype correlations. Parkinsonism and Related Disorders. 2018. PubMed
Common and rare GCH1 variants are associated with Parkinson disease.
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
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