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Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D,… See abstract for full author list ➔ Pottier C, et al. Among authors: hardy j. Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30. Lancet Neurol. 2018. PMID: 29724592 Free PMC article.
Apolipoprotein E and intellectual achievement.
Caselli RJ, Hentz JG, Osborne D, Graff-Radford NR, Barbieri CJ, Alexander GE, Hall GR, Reiman EM, Hardy J, Saunders AM. Caselli RJ, et al. Among authors: hardy j. J Am Geriatr Soc. 2002 Jan;50(1):49-54. doi: 10.1046/j.1532-5415.2002.50007.x. J Am Geriatr Soc. 2002. PMID: 12028246
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A. Hague S, et al. Among authors: hardy j. Ann Neurol. 2003 Aug;54(2):271-4. doi: 10.1002/ana.10663. Ann Neurol. 2003. PMID: 12891685
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation.
Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, Rossor M, Janssen JC, Neary D, Craufurd D, Richardson A, Snowden J, Hardy J, Mann D, Hutton M. Pickering-Brown S, et al. Among authors: hardy j. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):79-82. doi: 10.1002/ajmg.b.20083. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 14755449
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB. Rogaeva E, et al. Among authors: hardy j. Arch Neurol. 2004 Dec;61(12):1898-904. doi: 10.1001/archneur.61.12.1898. Arch Neurol. 2004. PMID: 15596610
3,436 results