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Page 1
Genetic variation and pesticide exposure influence blood DNA methylation signatures in females with early-stage Parkinson's disease.
Schaffner SL, Casazza W, Artaud F, Konwar C, Merrill SM, Domenighetti C, Schulze-Hentrich JM, Lesage S, Brice A, Corvol JC, Mostafavi S, Dennis JK, Elbaz A, Kobor MS; DIGPD Study Group. Schaffner SL, et al. Among authors: brice a. NPJ Parkinsons Dis. 2024 May 7;10(1):98. doi: 10.1038/s41531-024-00704-3. NPJ Parkinsons Dis. 2024. PMID: 38714693
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Among authors: brice a. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 Free article.
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia.
Samra K, Peakman G, MacDougall AM, Bouzigues A, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Ber IL, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL;  Genetic FTD Initiative (GENFI). Samra K, et al. Alzheimers Dement (Amst). 2024 Apr 14;16(2):e12571. doi: 10.1002/dad2.12571. eCollection 2024 Apr-Jun. Alzheimers Dement (Amst). 2024. PMID: 38623386 Free PMC article.
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: brice a. Lancet Neurol. 2024 Apr 10:S1474-4422(24)00121-2. doi: 10.1016/S1474-4422(24)00121-2. Online ahead of print. Lancet Neurol. 2024. PMID: 38614108 Free article.
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
Menon PJ, Sambin S, Criniere-Boizet B, Courtin T, Tesson C, Casse F, Ferrien M, Mariani LL, Carvalho S, Lejeune FX, Rebbah S, Martet G, Houot M, Lanore A, Mangone G, Roze E, Vidailhet M, Aasly J, Gan Or Z, Yu E, Dauvilliers Y, Zimprich A, Tomantschger V, Pirker W, Álvarez I, Pastor P, Di Fonzo A, Bhatia KP, Magrinelli F, Houlden H, Real R, Quattrone A, Limousin P, Korlipara P, Foltynie T, Grosset D, Williams N, Narendra D, Lin HP, Jovanovic C, Svetel M, Lynch T, Gallagher A, Vandenberghe W, Gasser T, Brockmann K, Morris HR, Borsche M, Klein C, Corti O, Brice A, Lesage S, Corvol JC; French Parkinson disease Genetics Study Group (PDG). Menon PJ, et al. Among authors: brice a. NPJ Parkinsons Dis. 2024 Mar 29;10(1):72. doi: 10.1038/s41531-024-00677-3. NPJ Parkinsons Dis. 2024. PMID: 38553467 Free PMC article.
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes.
Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, G de Yébenes J, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP. Wang H, et al. Among authors: brice a. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 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. Mov Disord. 2024 Apr;39(4):728-733. doi: 10.1002/mds.29753. Epub 2024 Feb 23. Mov Disord. 2024. PMID: 38390630
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinase.
Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino T, Amouri R, Sassi SB, Hentati F; Global Parkinson’s Genetics Program (GP2); Tonelli F, Alessi DR, Farrer MJ. Gustavsson EK, et al. Among authors: brice a. medRxiv [Preprint]. 2024 Jan 18:2024.01.17.24300927. doi: 10.1101/2024.01.17.24300927. medRxiv. 2024. PMID: 38293014 Free PMC article. Preprint.
NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.
Linnemann C, Wilke C, Mengel D, Zetterberg H, Heller C, Kuhle J, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Van Swieten JC, Jiskoot LC, Seelaar H, Moreno F, Borroni B, Sánchez-Valle R, Galimberti D, Laforce R Jr, Graff C, Masellis M, Tartaglia MC, Rowe JB, Finger E, Vandenberghe R, de Mendonca A, Butler CR, Gerhard A, Ducharme S, Ber ILE, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Synofzik M; GENFI. Linnemann C, et al. J Neurol Neurosurg Psychiatry. 2024 Feb 1:jnnp-2023-332464. doi: 10.1136/jnnp-2023-332464. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38253362 Free article.
1,074 results