Honeycutt L, Montplaisir JY, Gagnon JF, Ruskey JA, Pelletier A, Gan-Or Z* and Postuma RB*. (*co-corresponding authors). Glucocerbrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia. Parkinsonism and Related Disorders. 2019. PubMed
Blog
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset.
Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A, International Parkinson’s Disease Genomics Consortium (IPDGC), Ryten M and Sulev Koks. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset. NPJ Parkinson’s Disease. 2019. PubMed, Preprint
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson disease.
Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrom L, Gan-Or Z, The International Parkinson’s Disease Genomics Consortium (IPDGC), Cookson MR, Nalls MA and Singleton AB. The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson disease. Movement Disorders. 2019. PubMed
The landscape of parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson’s disease.
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