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The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Jones-Tabah J, He K, Senkevich K, Karpilovsky N, Deyab G, Cousineau Y, Nikanorova D, Goldsmith T, Del Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Pietrantonio I, Goiran T, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupré N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, Hassin-Baer S, Alcalay RN, Milnerwood A, Durcan TM, Gan-Or Z, Fon EA. Jones-Tabah J, et al. Among authors: waters c. bioRxiv [Preprint]. 2023 Nov 15:2023.11.11.566693. doi: 10.1101/2023.11.11.566693. bioRxiv. 2023. Update in: Mol Neurodegener. 2024 Nov 25;19(1):88. doi: 10.1186/s13024-024-00779-9 PMID: 38014143 Free PMC article. Updated. Preprint.
Clinical and pathological characteristics of LRRK2 G2019S patients with PD.
Poulopoulos M, Cortes E, Vonsattel JP, Fahn S, Waters C, Cote LJ, Moskowitz C, Honig LS, Clark LN, Marder KS, Alcalay RN. Poulopoulos M, et al. Among authors: waters c. J Mol Neurosci. 2012 May;47(1):139-43. doi: 10.1007/s12031-011-9696-y. Epub 2011 Dec 23. J Mol Neurosci. 2012. PMID: 22194196 Free PMC article.
Fall risk and gait in Parkinson's disease: the role of the LRRK2 G2019S mutation.
Mirelman A, Heman T, Yasinovsky K, Thaler A, Gurevich T, Marder K, Bressman S, Bar-Shira A, Orr-Urtreger A, Giladi N, Hausdorff JM; LRRK2 Ashkenazi Jewish Consortium. Mirelman A, et al. Mov Disord. 2013 Oct;28(12):1683-90. doi: 10.1002/mds.25587. Epub 2013 Oct 7. Mov Disord. 2013. PMID: 24123150
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: waters c. 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.
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X. Alcalay RN, et al. Among authors: waters cc. Brain. 2015 Sep;138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27. Brain. 2015. PMID: 26117366 Free PMC article.
Alpha galactosidase A activity in Parkinson's disease.
Alcalay RN, Wolf P, Levy OA, Kang UJ, Waters C, Fahn S, Ford B, Kuo SH, Vanegas N, Shah H, Liong C, Narayan S, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Oliva P, Keutzer J, Marder K, Zhang XK. Alcalay RN, et al. Among authors: waters c. Neurobiol Dis. 2018 Apr;112:85-90. doi: 10.1016/j.nbd.2018.01.012. Epub 2018 Feb 2. Neurobiol Dis. 2018. PMID: 29369793 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: waters c. 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.
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: waters c. 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.
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: waters c. 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.
927 results