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Page 1
Dopamine pathway and Parkinson's risk variants are associated with levodopa-induced dyskinesia.
Sosero YL, Bandres-Ciga S, Ferwerda B, Tocino MTP, Belloso DR, Gómez-Garre P, Faouzi J, Taba P, Pavelka L, Marques TM, Gomes CPC, Kolodkin A, May P, Milanowski LM, Wszolek ZK, Uitti RJ, Heutink P, van Hilten JJ, Simon DK, Eberly S, Alvarez I, Krohn L, Yu E, Freeman K, Rudakou U, Ruskey JA, Asayesh F, Menéndez-Gonzàlez M, Pastor P, Ross OA, Krüger R, Corvol JC, Koks S, Mir P, De Bie RMA, Iwaki H, Gan-Or Z. Sosero YL, et al. Among authors: ruskey ja. medRxiv [Preprint]. 2023 Sep 20:2023.08.28.23294610. doi: 10.1101/2023.08.28.23294610. medRxiv. 2023. PMID: 37790572 Free PMC article. Preprint.
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
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF, Desautels A, Hassin-Baer S, Montplaisir JY, Dupré N, Rouleau GA, Fon EA, Trempe JF, Lamoureux G, Alcalay RN, Gan-Or Z. Krohn L, et al. Among authors: ruskey ja. Ann Neurol. 2020 Jan;87(1):139-153. doi: 10.1002/ana.25629. Epub 2019 Nov 18. Ann Neurol. 2020. PMID: 31658403
46 results