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Page 1
Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?
Senkevich K, Parlar SC, Chantereault C, Yu E, 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, Gan-Or Z. Senkevich K, et al. medRxiv [Preprint]. 2024 Jun 1:2024.05.29.24307986. doi: 10.1101/2024.05.29.24307986. medRxiv. 2024. Update in: NPJ Parkinsons Dis. 2024 Oct 25;10(1):201. doi: 10.1038/s41531-024-00809-9 PMID: 38853950 Free PMC article. Updated. Preprint.
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. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
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. 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.
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, Dupre N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, HassinBaer S, Alcalay RN, Milnerwood A, Durcan TM, Gan-Or Z, Fon EA. Jones-Tabah J, et al. Res Sq [Preprint]. 2024 Mar 19:rs.3.rs-3979098. doi: 10.21203/rs.3.rs-3979098/v1. Res Sq. 2024. Update in: Mol Neurodegener. 2024 Nov 25;19(1):88. doi: 10.1186/s13024-024-00779-9 PMID: 38562709 Free PMC article. Updated. Preprint.
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
Risk factors for actinic keratosis, non-melanoma skin cancer and cutaneous malignant melanoma in persons with and without Parkinson's disease: A cross-sectional study.
Azizi E, Feuerman H, Peleg I, Pavlotsky F, Segal Z, Oberman B, Lev N, Hodak E, Djaldetti R, Hassin-Baer S, Inzelberg R. Azizi E, et al. Among authors: hassin baer s. Skin Health Dis. 2024 Oct 4;4(6):e464. doi: 10.1002/ski2.464. eCollection 2024 Dec. Skin Health Dis. 2024. PMID: 39624738 Free PMC article.
Correction: 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, Karpilovsky N, Senkevich K, Deyab G, Pietrantonio I, Goiran T, Cousineau Y, Nikanorova D, Goldsmith T, Del Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, 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: hassin baer s. Mol Neurodegener. 2024 Dec 18;19(1):94. doi: 10.1186/s13024-024-00791-z. Mol Neurodegener. 2024. PMID: 39696367 Free PMC article. No abstract available.
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, Karpilovsky N, Senkevich K, Deyab G, Pietrantonio I, Goiran T, Cousineau Y, Nikanorova D, Goldsmith T, Del Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, 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: hassin baer s. Mol Neurodegener. 2024 Nov 25;19(1):88. doi: 10.1186/s13024-024-00779-9. Mol Neurodegener. 2024. PMID: 39587654 Free PMC article.
161 results