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Page 1
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
Alvarez Jerez P, Daida K, Miano-Burkhardt A, Iwaki H, Malik L, Cogan G, Makarious MB, Sullivan R, Vandrovcova J, Ding J, Gibbs JR, Markham A, Nalls MA, Kesharwani RK, Sedlazeck FJ, Casey B, Hardy J, Houlden H, Blauwendraat C, Singleton AB, Billingsley KJ. Alvarez Jerez P, et al. Among authors: blauwendraat c. NPJ Parkinsons Dis. 2024 May 24;10(1):108. doi: 10.1038/s41531-024-00723-0. NPJ Parkinsons Dis. 2024. PMID: 38789445 Free PMC article.
A cross-sectional study of α-synuclein seed amplification assay in Alzheimer's disease neuroimaging initiative: Prevalence and associations with Alzheimer's disease biomarkers and cognitive function.
Tosun D, Hausle Z, Iwaki H, Thropp P, Lamoureux J, Lee EB, MacLeod K, McEvoy S, Nalls M, Perrin RJ, Saykin AJ, Shaw LM, Singleton AB, Lebovitz R, Weiner MW, Blauwendraat C; Alzheimer's Disease Neuroimaging Initiative. Tosun D, et al. Among authors: blauwendraat c. Alzheimers Dement. 2024 May 21. doi: 10.1002/alz.13858. Online ahead of print. Alzheimers Dement. 2024. PMID: 38770829
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.
Cogan G, Daida K, Billingsley KJ, Tesson C, Forlani S, Jornea L, Arnaud L, Tissier L, LeGuern E, Singleton AB, Ferrien M, Gervais Bernard H, Lesage S, Blauwendraat C, Brice A. Cogan G, et al. Among authors: blauwendraat c. medRxiv [Preprint]. 2024 May 3:2024.05.02.24306523. doi: 10.1101/2024.05.02.24306523. medRxiv. 2024. PMID: 38746197 Free PMC article. Preprint.
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.
Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, Christopher EA, DeTure M, Seeley WW, Lee EB, Frosch MP, Molina-Porcel L, Gefen T, Redding-Ochoa J, Ghetti B, Robinson AC, Kobylecki C, Rowe JB, Beach TG, Teich AF, Keith JL, Bodi I, Halliday GM, Gearing M, Arzberger T, Morris CM, White CL 3rd, Mechawar N, Boluda S, MacKenzie IR, McLean C, Cykowski MD, Wang SJ, Graff C, Nagra RM, Kovacs GG, Giaccone G, Neumann M, Ang LC, Carvalho A, Morris HR, Rademakers R, Hardy JA, Dickson DW, Rohrer JD, Ross OA; Pick's disease International Consortium. Valentino RR, et al. Lancet Neurol. 2024 May;23(5):487-499. doi: 10.1016/S1474-4422(24)00083-8. Lancet Neurol. 2024. PMID: 38631765 Free article.
GenoTools: An Open-Source Python Package for Efficient Genotype Data Quality Control and Analysis.
Vitale D, Koretsky M, Kuznetsov N, Hong S, Martin J, James M, Makarious MB, Leonard H, Iwaki H, Faghri F, Blauwendraat C, Singleton AB, Song Y, Levine K, Kumar Sreelatha AA, Fang ZH, Nalls M. Vitale D, et al. Among authors: blauwendraat c. bioRxiv [Preprint]. 2024 Mar 29:2024.03.26.586362. doi: 10.1101/2024.03.26.586362. bioRxiv. 2024. PMID: 38585876 Free PMC article. Preprint.
Evaluation of cerebrospinal fluid alpha-synuclein seed amplification assay in PSP and CBS.
Vaughan DP, Fumi R, Theilmann Jensen M, Georgiades T, Wu L, Lux D, Obrocki R, Lamoureux J, Ansorge O, Allinson K, Warner TT, Jaunmuktane Z, Misbahuddin A, Leigh PN, Ghosh B, Bhatia KP, Church A, Kobylecki C, Hu M, Rowe JB, Blauwendraat C, Morris HR, Jabbari E. Vaughan DP, et al. Among authors: blauwendraat c. medRxiv [Preprint]. 2024 Feb 29:2024.02.28.24303478. doi: 10.1101/2024.02.28.24303478. medRxiv. 2024. PMID: 38529496 Free PMC article. Preprint.
Understanding monogenic Parkinson's disease at a global scale.
Junker J, Lange LM, Vollstedt EJ, Roopnarain K, Doquenia MLM, Annuar AA, Avenali M, Bardien S, Bahr N, Ellis M, Galandra C, Gasser T, Heutink P, Illarionova A, Kanana Y, Keller Sarmiento IJ, Kumar KR, Lim SY, Madoev H, Mata IF, Mencacci NE, Nalls MA, Padmanabhan S, Shambetova C, Solle J, Tan AH, Trinh J, Valente EM, Singleton A, Blauwendraat C, Lohmann K, Fang ZH, Klein C; Global Parkinson’s Genetics Program (GP2). Junker J, et al. Among authors: blauwendraat c. medRxiv [Preprint]. 2024 Apr 9:2024.03.12.24304154. doi: 10.1101/2024.03.12.24304154. medRxiv. 2024. PMID: 38529492 Free PMC article. Preprint.
Assessing methylation detection for primary human tissue using Nanopore sequencing.
Genner R, Akeson S, Meredith M, Jerez PA, Malik L, Baker B, Miano-Burkhardt A; CARD-long-read Team; Paten B, Billingsley KJ, Blauwendraat C, Jain M. Genner R, et al. Among authors: blauwendraat c. bioRxiv [Preprint]. 2024 Mar 1:2024.02.29.581569. doi: 10.1101/2024.02.29.581569. bioRxiv. 2024. PMID: 38464144 Free PMC article. Preprint.
iSCORE-PD: an isogenic stem cell collection to research Parkinson's Disease.
Busquets O, Li H, Mohieddin Syed K, Jerez PA, Dunnack J, Bu RL, Verma Y, Pangilinan GR, Martin A, Straub J, Du Y, Simon VM, Poser S, Bush Z, Diaz J, Sahagun A, Gao J, Hernandez DG, Levine KS, Booth EO, Bateup HS, Rio DC, Hockemeyer D, Blauwendraat C, Soldner F. Busquets O, et al. Among authors: blauwendraat c. bioRxiv [Preprint]. 2024 Feb 13:2024.02.12.579917. doi: 10.1101/2024.02.12.579917. bioRxiv. 2024. PMID: 38405931 Free PMC article. Preprint.
GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.
Ojo OO, Bandres-Ciga S, Makarious MB, Crea PW, Hernandez DG, Houlden H, Rizig M, Singleton AB, Noyce AJ, Nalls MA, Blauwendraat C, Okubadejo NU; Nigeria Parkinson's Disease Research Network and the Global Parkinson's Genetics Program (GP2). Ojo OO, et al. Among authors: blauwendraat c. Mov Disord. 2024 Apr;39(4):728-733. doi: 10.1002/mds.29753. Epub 2024 Feb 23. Mov Disord. 2024. PMID: 38390630
172 results