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Page 1
Human brain single nucleus cell type enrichments in neurodegenerative diseases.
Alvarado CX, Weller CA, Johnson N, Leonard HL, Singleton AB, Reed X, Blauewendraat C, Nalls MA. Alvarado CX, et al. Among authors: singleton ab. Res Sq [Preprint]. 2023 Nov 15:rs.3.rs-3390225. doi: 10.21203/rs.3.rs-3390225/v1. Res Sq. 2023. PMID: 38014237 Free PMC article. Preprint.
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group; Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Nalls MA, et al. Among authors: singleton ab. Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27. Nat Genet. 2014. PMID: 25064009 Free PMC article.
Human brain single nucleus cell type enrichments in neurodegenerative diseases.
Alvarado CX, Weller CA, Johnson N, Leonard HL, Singleton AB, Reed X, Blauewendraat C, Nalls M. Alvarado CX, et al. Among authors: singleton ab. medRxiv [Preprint]. 2023 Jul 1:2023.06.30.23292084. doi: 10.1101/2023.06.30.23292084. medRxiv. 2023. PMID: 37577689 Free PMC article. Preprint.
Neuronal alpha-Synuclein Disease integrated staging system performance in PPMI, PASADENA, and SPARK baseline cohorts.
Dam T, Pagano G, Brumm MC, Gochanour C, Poston KL, Weintraub D, Chahine LM, Coffey C, Tanner CM, Kopil CM, Xiao Y, Chowdhury S, Concha-Marambio L, DiBiaso P, Foroud T, Frasier M, Jennings D, Kieburtz K, Merchant K, Mollenhauer B, Montine TJ, Nudelman K, Seibyl J, Sherer T, Singleton A, Stephenson D, Stern M, Soto C, Tolosa E, Siderowf A, Dunn B, Simuni T, Marek K; Parkinson’s Progression Markers Initiative. Dam T, et al. NPJ Parkinsons Dis. 2024 Sep 27;10(1):178. doi: 10.1038/s41531-024-00789-w. NPJ Parkinsons Dis. 2024. PMID: 39333167 Free PMC article.
Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort.
Simuni T, Merchant K, Brumm MC, Cho H, Caspell-Garcia C, Coffey CS, Chahine LM, Alcalay RN, Nudelman K, Foroud T, Mollenhauer B, Siderowf A, Tanner C, Iwaki H, Sherer T, Marek K; Parkinson’s Progression Marker Initiative Authors. Simuni T, et al. NPJ Parkinsons Dis. 2022 Oct 22;8(1):140. doi: 10.1038/s41531-022-00404-w. NPJ Parkinsons Dis. 2022. PMID: 36273008 Free PMC article.
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Jerez PÁ, Wild Crea PA, Ramos DM, Gustavsson EK, Radefeldt M, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu C, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Jerez PÁ, et al. Among authors: singleton ab. medRxiv [Preprint]. 2024 Feb 24:2024.02.20.24302827. doi: 10.1101/2024.02.20.24302827. medRxiv. 2024. PMID: 39802803 Free PMC article. Preprint.
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Álvarez Jerez P, et al. Among authors: singleton ab. Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2. Epub 2024 Dec 12. Nat Struct Mol Biol. 2024. PMID: 39668204 Free PMC article.
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Chen Z, Alvarez Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A, Montgomery K, Hardy J, Singleton AB, Tucci A, Mathews KD, Fu YH, Engvall M, Laffita-Mesa J, Nennesmo I, Wedell A, Ptáček LJ, Blauwendraat C, Gustavsson EK, Svenningsson P, Ryten M, Houlden H. Chen Z, et al. Among authors: singleton ab. Mov Disord. 2024 Dec 5. doi: 10.1002/mds.30077. Online ahead of print. Mov Disord. 2024. PMID: 39635987
CNV-Finder: Streamlining Copy Number Variation Discovery.
Kuznetsov N, Daida K, Makarious MB, Al-Mubarak B, Brolin KA, Malik L, Kouam C, Baker B, Ostrozovicova M, Andersh KM, Kung PJ, Mecheri Y, Tay YW, Malek BS, Al Tassan N, Periñan MT, Hong S, Koretsky M, Sargeant L, Levine K, Blauwendraat C, Billingsley KJ, Bandres-Ciga S, Leonard HL, Morris HR, Singleton AB, Nalls MA, Vitale D; Global Parkinson’s Genetics Program (GP2). Kuznetsov N, et al. Among authors: singleton ab. bioRxiv [Preprint]. 2024 Nov 23:2024.11.22.624040. doi: 10.1101/2024.11.22.624040. bioRxiv. 2024. PMID: 39605431 Free PMC article. Preprint.
ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics.
Li Z, Weller CA, Shah S, Johnson NL, Hao Y, Jarreau PB, Roberts J, Guha D, Bereda C, Klaisner S, Machado P, Zanovello M, Prudencio M, Oskarsson B, Staff NP, Dickson DW, Fratta P, Petrucelli L, Narayan P, Cookson MR, Ward ME, Singleton AB, Nalls MA, Qi YA. Li Z, et al. Among authors: singleton ab. Genomics Proteomics Bioinformatics. 2024 Nov 22:qzae083. doi: 10.1093/gpbjnl/qzae083. Online ahead of print. Genomics Proteomics Bioinformatics. 2024. PMID: 39576693 Free article.
453 results