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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. Among authors: fahn s. 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.
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. Among authors: fahn s. 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.
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA, Gan-Or Z. Alcalay RN, et al. Among authors: fahn s. Mov Disord. 2019 Apr;34(4):526-535. doi: 10.1002/mds.27642. Epub 2019 Feb 20. Mov Disord. 2019. PMID: 30788890 Free PMC article.
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. Among authors: fahn s. 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: fahn s. 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.
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: fahn s. Mov Disord. 2021 Jan;36(1):178-187. doi: 10.1002/mds.28299. Epub 2020 Sep 24. Mov Disord. 2021. PMID: 32970363
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: fahn s. 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.
LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease.
Sosero YL, Yu E, Krohn L, Rudakou U, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Sardi SP, Bandres-Ciga S, Alcalay RN, Gan-Or Z, Senkevich K. Sosero YL, et al. Among authors: fahn s. Neurobiol Aging. 2021 Jul;103:142.e1-142.e5. doi: 10.1016/j.neurobiolaging.2021.02.018. Epub 2021 Feb 28. Neurobiol Aging. 2021. PMID: 33781610 Free PMC article.
Genetic markers of Restless Legs Syndrome in Parkinson disease.
Gan-Or Z, Alcalay RN, Bar-Shira A, Leblond CS, Postuma RB, Ben-Shachar S, Waters C, Johnson A, Levy O, Mirelman A, Gana-Weisz M, Dupré N, Montplaisir J, Giladi N, Fahn S, Xiong L, Dion PA, Orr-Urtreger A, Rouleau GA. Gan-Or Z, et al. Among authors: fahn s. Parkinsonism Relat Disord. 2015 Jun;21(6):582-5. doi: 10.1016/j.parkreldis.2015.03.010. Epub 2015 Mar 17. Parkinsonism Relat Disord. 2015. PMID: 25817513 Free PMC article.
609 results