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Page 1
Intermediate HTT CAG repeats worsen disease severity in amyotrophic lateral sclerosis.
Grassano M, Canosa A, D'Alfonso S, Corrado L, Brodini G, Koumantakis E, Cugnasco P, Manera U, Vasta R, Palumbo F, Mazzini L, Gallone S, Moglia C, Dewan R, Chia R, Ding J, Dalgard C, Gibbs RJ, Scholz S, Calvo A, Traynor B, Chio A. Grassano M, et al. Among authors: gibbs rj. J Neurol Neurosurg Psychiatry. 2024 Sep 6:jnnp-2024-333998. doi: 10.1136/jnnp-2024-333998. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39242198 Free article. No abstract available.
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Grassano M, Calvo A, Moglia C, Brunetti M, Barberis M, Sbaiz L, Canosa A, Manera U, Vasta R, Corrado L, D'Alfonso S, Mazzini L, Scholz SW, Dalgard C, Ding J, Gibbs RJ, Chia R, Traynor BJ, Chiò A; American Genomic Center. Grassano M, et al. Among authors: gibbs rj. Neurology. 2021 Jan 26;96(4):e600-e609. doi: 10.1212/WNL.0000000000011209. Epub 2020 Nov 18. Neurology. 2021. PMID: 33208543 Free PMC article.
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.
Traynor BJ, Nalls M, Lai SL, Gibbs RJ, Schymick JC, Arepalli S, Hernandez D, van der Brug MP, Johnson JO, Dillman A, Cookson M, Moglia C, Calvo A, Restagno G, Mora G, Chiò A. Traynor BJ, et al. Among authors: gibbs rj. Proc Natl Acad Sci U S A. 2010 Jul 6;107(27):12335-8. doi: 10.1073/pnas.0914079107. Epub 2010 Jun 21. Proc Natl Acad Sci U S A. 2010. PMID: 20566859 Free PMC article.
LRP10 in α-synucleinopathies.
Kia DA, Sabir MS, Ahmed S, Trinh J, Bandres-Ciga S; International Parkinson's Disease Genomics Consortium. Kia DA, et al. Lancet Neurol. 2018 Dec;17(12):1032. doi: 10.1016/S1474-4422(18)30401-0. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507383 No abstract available.
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC). Klebe S, et al. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):666-73. doi: 10.1136/jnnp-2012-304475. Epub 2013 Feb 13. J Neurol Neurosurg Psychiatry. 2013. PMID: 23408064 Free PMC article.
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, Bras J; Alzheimer's Research UK Consortium; Morgan K, Powell JF, Singleton A, Hardy J. Sassi C, et al. Neurobiol Aging. 2014 Dec;35(12):2881.e1-2881.e6. doi: 10.1016/j.neurobiolaging.2014.06.002. Epub 2014 Jun 16. Neurobiol Aging. 2014. PMID: 25104557 Free PMC article.
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J; ARUK Consortium; Morgan K, Powell JF, Kauwe JS, Cruchaga C, Bras J, Goate AM, Singleton AB, Guerreiro R, Hardy J. Sassi C, et al. PLoS One. 2016 Jun 1;11(6):e0150079. doi: 10.1371/journal.pone.0150079. eCollection 2016. PLoS One. 2016. PMID: 27249223 Free PMC article.
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Mann D, Snowden J, Neary D, Harris J, Bras J; ARUK Consortium; Morgan K, Powell JF, Singleton A, Hardy J. Sassi C, et al. Neurobiol Aging. 2014 Oct;35(10):2422.e13-6. doi: 10.1016/j.neurobiolaging.2014.04.026. Epub 2014 May 2. Neurobiol Aging. 2014. PMID: 24880964 Free PMC article.
The transcriptional landscape of age in human peripheral blood.
Peters MJ, Joehanes R, Pilling LC, Schurmann C, Conneely KN, Powell J, Reinmaa E, Sutphin GL, Zhernakova A, Schramm K, Wilson YA, Kobes S, Tukiainen T; NABEC/UKBEC Consortium; Ramos YF, Göring HH, Fornage M, Liu Y, Gharib SA, Stranger BE, De Jager PL, Aviv A, Levy D, Murabito JM, Munson PJ, Huan T, Hofman A, Uitterlinden AG, Rivadeneira F, van Rooij J, Stolk L, Broer L, Verbiest MM, Jhamai M, Arp P, Metspalu A, Tserel L, Milani L, Samani NJ, Peterson P, Kasela S, Codd V, Peters A, Ward-Caviness CK, Herder C, Waldenberger M, Roden M, Singmann P, Zeilinger S, Illig T, Homuth G, Grabe HJ, Völzke H, Steil L, Kocher T, Murray A, Melzer D, Yaghootkar H, Bandinelli S, Moses EK, Kent JW, Curran JE, Johnson MP, Williams-Blangero S, Westra HJ, McRae AF, Smith JA, Kardia SL, Hovatta I, Perola M, Ripatti S, Salomaa V, Henders AK, Martin NG, Smith AK, Mehta D, Binder EB, Nylocks KM, Kennedy EM, Klengel T, Ding J, Suchy-Dicey AM, Enquobahrie DA, Brody J, Rotter JI, Chen YD, Houwing-Duistermaat J, Kloppenburg M, Slagboom PE, Helmer Q, den Hollander W, Bean S, Raj T, Bakhshi N, Wang QP, Oyston LJ, Psaty BM, Tracy RP, Montgomery GW, Turner ST, Blangero J, Meulenbelt I, Ressler KJ, Yang J, Franke L… See abstract for full author list ➔ Peters MJ, et al. Nat Commun. 2015 Oct 22;6:8570. doi: 10.1038/ncomms9570. Nat Commun. 2015. PMID: 26490707 Free PMC article.
Genetic risk factors in Finnish patients with Parkinson's disease.
Ylönen S, Siitonen A, Nalls MA, Ylikotila P, Autere J, Eerola-Rautio J, Gibbs R, Hiltunen M, Tienari PJ, Soininen H, Singleton AB, Majamaa K. Ylönen S, et al. Parkinsonism Relat Disord. 2017 Dec;45:39-43. doi: 10.1016/j.parkreldis.2017.09.021. Epub 2017 Sep 29. Parkinsonism Relat Disord. 2017. PMID: 29029963 Free PMC article.
42 results