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246 results

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Page 1
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Among authors: alcalay rn. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.
Clark LN, Chan R, Cheng R, Liu X, Park N, Parmalee N, Kisselev S, Cortes E, Torres PA, Pastores GM, Vonsattel JP, Alcalay R, Marder K, Honig LL, Fahn S, Mayeux R, Shelanski M, Di Paolo G, Lee JH. Clark LN, et al. PLoS One. 2015 May 1;10(5):e0125204. doi: 10.1371/journal.pone.0125204. eCollection 2015. PLoS One. 2015. PMID: 25933391 Free PMC article.
Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease.
Pal GD, Hall D, Ouyang B, Phelps J, Alcalay R, Pauciulo MW, Nichols WC, Clark L, Mejia-Santana H, Blasucci L, Goetz CG, Comella C, Colcher A, Gan-Or Z, Rouleau GA, Marder K; Consortium on Risk for Early Onset Parkinson's Disease (CORE-PD) Investigators. Pal GD, et al. Mov Disord Clin Pract. 2016 Sep-Oct;3(5):465-471. doi: 10.1002/mdc3.12309. Epub 2016 Jan 18. Mov Disord Clin Pract. 2016. PMID: 27709117 Free PMC article.
LRP10 in α-synucleinopathies.
Kia DA, Sabir MS, Ahmed S, Trinh J, Bandres-Ciga S; International Parkinson's Disease Genomics Consortium. Kia DA, et al. Lancet Neurol. 2018 Dec;17(12):1032. doi: 10.1016/S1474-4422(18)30401-0. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507383 No abstract available.
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrøm L, Gan-Or Z; International Parkinson's Disease Genomics Consortium (IPDGC); Cookson MR, Nalls MA, Singleton AB. Bandres-Ciga S, et al. Mov Disord. 2019 Apr;34(4):460-468. doi: 10.1002/mds.27614. Epub 2019 Jan 24. Mov Disord. 2019. PMID: 30675927 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. 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.
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: alcalay rn. Ann Neurol. 2020 Jan;87(1):139-153. doi: 10.1002/ana.25629. Epub 2019 Nov 18. Ann Neurol. 2020. PMID: 31658403
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB; 23andMe Research Team; System Genomics of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium. Nalls MA, et al. Lancet Neurol. 2019 Dec;18(12):1091-1102. doi: 10.1016/S1474-4422(19)30320-5. Lancet Neurol. 2019. PMID: 31701892 Free PMC article.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ; 23andMe Research Team; Pantelyat A, Hillis AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson MR, Nalls MA, Gan-Or Z, Singleton AB. Blauwendraat C, et al. Among authors: alcalay rn. Brain. 2020 Jan 1;143(1):234-248. doi: 10.1093/brain/awz350. Brain. 2020. PMID: 31755958 Free PMC article.
Classification of GBA Variants and Their Effects in Synucleinopathies.
Gan-Or Z, Alcalay RN, Makarious MB, Scholz SW, Blauwendraat C; International Parkinson's Disease Genomics Consortium (IPDGC). Gan-Or Z, et al. Among authors: alcalay rn. Mov Disord. 2019 Oct;34(10):1581-1582. doi: 10.1002/mds.27803. Mov Disord. 2019. PMID: 31769092 No abstract available.
246 results