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Page 1
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.
Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, Wood N, Hardy J, Gan-Or Z, Heutink P, Gasser T, Morris HR, Noyce AJ, Nalls MA, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Among authors: ruskey ja. Ann Neurol. 2021 Jul;90(1):35-42. doi: 10.1002/ana.26090. Epub 2021 May 24. Ann Neurol. 2021. PMID: 33901317 Free PMC article.
Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.
Gan-Or Z, Ruskey JA, Spiegelman D, Arnulf I, Dauvilliers Y, Högl B, Monaca-Charley C, Postuma RB, Montplaisir JY, Rouleau GA. Gan-Or Z, et al. Among authors: ruskey ja. Brain. 2017 Jun 1;140(6):e32. doi: 10.1093/brain/awx076. Brain. 2017. PMID: 28379291 No abstract available.
Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.
Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, Ambalavanan A, 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, Gan-Or Z. Li J, et al. Among authors: ruskey ja. Mov Disord. 2018 Jul;33(6):1016-1020. doi: 10.1002/mds.27385. Epub 2018 May 14. Mov Disord. 2018. PMID: 29756641
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, Gan-Or Z. Ruskey JA, et al. Eur J Med Genet. 2019 Jan;62(1):65-69. doi: 10.1016/j.ejmg.2018.05.005. Epub 2018 May 26. Eur J Med Genet. 2019. PMID: 29842932 Free PMC article.
Sequencing of the GBA coactivator, 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, Gan-Or Z. Ouled Amar Bencheikh B, et al. Among authors: ruskey ja. Neurobiol Aging. 2018 Dec;72:187.e1-187.e3. doi: 10.1016/j.neurobiolaging.2018.06.034. Epub 2018 Jul 2. Neurobiol Aging. 2018. PMID: 30037697 Free PMC article.
Common and rare GCH1 variants are associated with Parkinson's 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, Gan-Or Z. Rudakou U, et al. Among authors: ruskey ja. Neurobiol Aging. 2019 Jan;73:231.e1-231.e6. doi: 10.1016/j.neurobiolaging.2018.09.008. Epub 2018 Sep 15. Neurobiol Aging. 2019. PMID: 30314816 Free PMC article.
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, Gan-Or Z. Leveille E, et al. Among authors: ruskey ja. Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31. Mol Genet Genomic Med. 2018. PMID: 30381913 Free PMC article.
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, Hassin-Baer S. Yahalom G, et al. Among authors: ruskey ja. Parkinsonism Relat Disord. 2019 May;62:179-184. doi: 10.1016/j.parkreldis.2018.12.014. Epub 2018 Dec 13. Parkinsonism Relat Disord. 2019. PMID: 30573413
46 results