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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. 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.
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: rudakou u. Ann Neurol. 2020 Jan;87(1):139-153. doi: 10.1002/ana.25629. Epub 2019 Nov 18. Ann Neurol. 2020. PMID: 31658403
Analysis of common and rare VPS13C variants in late-onset Parkinson disease.
Rudakou U, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Greenbaum L, Yahalom G, Desautels A, Montplaisir JY, Fahn S, Waters CH, Levy O, Kehoe CM, Narayan S, Dauvilliers Y, Dupré N, Hassin-Baer S, Alcalay RN, Rouleau GA, Fon EA, Gan-Or Z. Rudakou U, et al. Neurol Genet. 2020 Jan 9;6(1):385. doi: 10.1212/NXG.0000000000000385. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042909 Free PMC article.
Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.
Ouled Amar Bencheikh B, Senkevich K, Rudakou U, Yu E, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Espay AJ, Dupré N, Greenbaum L, Hassin-Baer S, Rouleau GA, Alcalay RN, Fon EA, Gan-Or Z. Ouled Amar Bencheikh B, et al. Among authors: rudakou u. Neurobiol Aging. 2020 Sep;93:143.e1-143.e4. doi: 10.1016/j.neurobiolaging.2020.03.021. Epub 2020 Apr 8. Neurobiol Aging. 2020. PMID: 32371106 Free PMC article.
SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder.
Rudakou U, Futhey NC, Krohn L, Ruskey JA, Heilbron K, Cannon P; 23andMe Research Team; Alam A, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Toffoli M, Gigli GL, Valente M, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, De Cock VC, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Gan-Or Z. Rudakou U, et al. Neurobiol Aging. 2020 Sep;93:142.e5-142.e7. doi: 10.1016/j.neurobiolaging.2020.04.005. Epub 2020 Apr 18. Neurobiol Aging. 2020. PMID: 32409254
GBA variants in REM sleep behavior disorder: A multicenter study.
Krohn L, Ruskey JA, Rudakou U, Leveille E, Asayesh F, Hu MTM, Arnulf I, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Abril B, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Boeve BF, Espay AJ, De Cock VC, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Desautels A, Montplaisir JY, Postuma RB, Rouleau GA, Gan-Or Z. Krohn L, et al. Among authors: rudakou u. Neurology. 2020 Aug 25;95(8):e1008-e1016. doi: 10.1212/WNL.0000000000010042. Epub 2020 Jun 26. Neurology. 2020. PMID: 32591474 Free PMC article.
Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.
Yu E, Rudakou U, Krohn L, Mufti K, Ruskey JA, Asayesh F, Estiar MA, Spiegelman D, Surface M, Fahn S, Waters CH, Greenbaum L, Espay AJ, Dauvilliers Y, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN, Gan-Or Z. Yu E, et al. Among authors: rudakou u. Mov Disord. 2021 Jan;36(1):178-187. doi: 10.1002/mds.28299. Epub 2020 Sep 24. Mov Disord. 2021. PMID: 32970363
Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder.
Mufti K, Rudakou U, Yu E, Krohn L, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Högl B, Stefani A, Holzknecht E, Šonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Gan-Or Z. Mufti K, et al. Among authors: rudakou u. Mov Disord. 2021 Jan;36(1):235-240. doi: 10.1002/mds.28318. Epub 2020 Oct 1. Mov Disord. 2021. PMID: 33001463
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
Saini P, Rudakou U, Yu E, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Espay AJ, Rouleau GA, Alcalay RN, Fon EA, Postuma RB, Gan-Or Z. Saini P, et al. Among authors: rudakou u. Neurobiol Aging. 2021 Apr;100:119.e7-119.e13. doi: 10.1016/j.neurobiolaging.2020.10.019. Epub 2020 Oct 31. Neurobiol Aging. 2021. PMID: 33239198 Free PMC article.
21 results