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Page 1
Common X-Chromosome Variants Are Associated with Parkinson Disease Risk.
Le Guen Y, Napolioni V, Belloy ME, Yu E, Krohn L, Ruskey JA, Gan-Or Z, Kennedy G, Eger SJ, Greicius MD. Le Guen Y, et al. Among authors: ruskey ja. Ann Neurol. 2021 Jul;90(1):22-34. doi: 10.1002/ana.26051. Epub 2021 Mar 6. Ann Neurol. 2021. PMID: 33583074 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.
LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.
Ouled Amar Bencheikh B, Ruskey JA, Arnulf I, Dauvilliers Y, Monaca CC, De Cock VC, 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, Gan-Or Z. Ouled Amar Bencheikh B, et al. Among authors: ruskey ja. Parkinsonism Relat Disord. 2018 Jul;52:98-101. doi: 10.1016/j.parkreldis.2018.03.019. Epub 2018 Mar 21. Parkinsonism Relat Disord. 2018. PMID: 29576439
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 Free article.
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.
52 results