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2015 1
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79 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 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, 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: senkevich k. Mol Neurodegener. 2024 Nov 25;19(1):88. doi: 10.1186/s13024-024-00779-9. Mol Neurodegener. 2024. PMID: 39587654 Free PMC article.
SLK is mutated in individuals with a neurodevelopmental disorder.
Alabdi L, Altuwaijri N, Zhu JY, Efthymiou S, Lee H, Duan J, Salem I, Yu P, Abdullah NL, Alzahrani F, Xu Q, Felemban MM, Alfaifi A, Rahman F, Christoforou M, Maqbool S, Martinez-Agosto JA, Alsaif HS, Hashem M, Helaby R, Alsulaiman A; SYNaPS Study Group; Queen Square Genomics; Maroofian R, Houlden H, Arold ST, Ibrahim LA, Han Z, Alkuraya FS. Alabdi L, et al. EBioMedicine. 2025 Jun;116:105725. doi: 10.1016/j.ebiom.2025.105725. Epub 2025 May 9. EBioMedicine. 2025. PMID: 40347834 Free PMC article.
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. NPJ Parkinsons Dis. 2024 Oct 25;10(1):201. doi: 10.1038/s41531-024-00809-9. NPJ Parkinsons Dis. 2024. PMID: 39455605 Free PMC article.
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Ibrahim A, Šonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, 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; 23andMe Research Team; Scholz SW, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls MA, Singleton AB, Rouleau GA, Postuma RB, Gan-Or Z. Krohn L, et al. Among authors: senkevich k. Nat Commun. 2022 Dec 5;13(1):7496. doi: 10.1038/s41467-022-34732-5. Nat Commun. 2022. PMID: 36470867 Free PMC article.
MerTK is a mediator of alpha-synuclein fibril uptake by human microglia.
Dorion MF, Yaqubi M, Senkevich K, Kieran NW, MacDonald A, Chen CXQ, Luo W, Wallis A, Shlaifer I, Hall JA, Dudley RWR, Glass IA; Birth Defects Research Laboratory; Stratton JA, Fon EA, Bartels T, Antel JP, Gan-Or Z, Durcan TM, Healy LM. Dorion MF, et al. Among authors: senkevich k. Brain. 2024 Feb 1;147(2):427-443. doi: 10.1093/brain/awad298. Brain. 2024. PMID: 37671615 Free PMC article.
Global Perspectives on Returning Genetic Research Results in Parkinson Disease.
Tan AH, Saffie-Awad P, Schumacher Schuh AF, Lim SY, Madoev H, Ahmad-Annuar A, Solle J, Wegel CE, Doquenia ML, Dey S, Perinan MT, Makarious MB, Fiske B, Morris HR, Noyce AJ, Alcalay RN, Kumar KR, Klein C; Global Parkinson's Genetic Program (GP2). Tan AH, et al. Neurol Genet. 2024 Dec 5;10(6):e200213. doi: 10.1212/NXG.0000000000200213. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39807215 Free PMC article.
Genome-Wide Association Study of Glucocerebrosidase Activity Modifiers.
Somerville EN, Krohn L, Senkevich K, Yu E, Ahmad J, Asayesh F, Ruskey JA, Spiegelman D, Fahn S, Waters C, Sardi SP, Alcalay RN, Gan-Or Z. Somerville EN, et al. Among authors: senkevich k. Mol Neurobiol. 2025 Sep;62(9):11560-11571. doi: 10.1007/s12035-025-04996-1. Epub 2025 Apr 29. Mol Neurobiol. 2025. PMID: 40299299 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: senkevich k. 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.
79 results