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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink J… See abstract for full author list ➔ Johnson JO, et al. Among authors: tienari pj. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain.
Myllykangas L, Polvikoski T, Reunanen K, Wavrant-De Vrieze F, Ellis C, Hernandez D, Sulkava R, Kontula K, Verkkoniemi A, Notkola IL, Hardy J, Perez-Tur J, Haltia MJ, Tienari PJ. Myllykangas L, et al. Among authors: tienari pj. Am J Med Genet. 2002 Apr 8;114(3):288-91. doi: 10.1002/ajmg.10202. Am J Med Genet. 2002. PMID: 11920850
Contribution of APOE promoter polymorphisms to Alzheimer's disease risk.
Lambert JC, Araria-Goumidi L, Myllykangas L, Ellis C, Wang JC, Bullido MJ, Harris JM, Artiga MJ, Hernandez D, Kwon JM, Frigard B, Petersen RC, Cumming AM, Pasquier F, Sastre I, Tienari PJ, Frank A, Sulkava R, Morris JC, St Clair D, Mann DM, Wavrant-DeVrièze F, Ezquerra-Trabalon M, Amouyel P, Hardy J, Haltia M, Valdivieso F, Goate AM, Pérez-Tur J, Lendon CL, Chartier-Harlin MC. Lambert JC, et al. Among authors: tienari pj. Neurology. 2002 Jul 9;59(1):59-66. doi: 10.1212/wnl.59.1.59. Neurology. 2002. PMID: 12105308
Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD.
Eerola J, Hernandez D, Launes J, Hellström O, Hague S, Gulick C, Johnson J, Peuralinna T, Hardy J, Tienari PJ, Singleton AB. Eerola J, et al. Among authors: tienari pj. Neurology. 2003 Oct 14;61(7):1000-2. doi: 10.1212/01.wnl.0000083992.28066.7e. Neurology. 2003. PMID: 14557580
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB. Johnson J, et al. Neurology. 2004 Aug 10;63(3):554-6. doi: 10.1212/01.wnl.0000133401.09043.44. Neurology. 2004. PMID: 15304594
222 results