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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 JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: pletnikova o. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Aggregation promoting C-terminal truncation of alpha-synuclein is a normal cellular process and is enhanced by the familial Parkinson's disease-linked mutations.
Li W, West N, Colla E, Pletnikova O, Troncoso JC, Marsh L, Dawson TM, Jäkälä P, Hartmann T, Price DL, Lee MK. Li W, et al. Among authors: pletnikova o. Proc Natl Acad Sci U S A. 2005 Feb 8;102(6):2162-7. doi: 10.1073/pnas.0406976102. Epub 2005 Jan 31. Proc Natl Acad Sci U S A. 2005. PMID: 15684072 Free PMC article.
Resistance to Alzheimer's pathology is associated with nuclear hypertrophy in neurons.
Riudavets MA, Iacono D, Resnick SM, O'Brien R, Zonderman AB, Martin LJ, Rudow G, Pletnikova O, Troncoso JC. Riudavets MA, et al. Among authors: o brien r, pletnikova o. Neurobiol Aging. 2007 Oct;28(10):1484-92. doi: 10.1016/j.neurobiolaging.2007.05.005. Epub 2007 Jun 28. Neurobiol Aging. 2007. PMID: 17599696 Free PMC article.
Neuronal hypertrophy in asymptomatic Alzheimer disease.
Iacono D, O'Brien R, Resnick SM, Zonderman AB, Pletnikova O, Rudow G, An Y, West MJ, Crain B, Troncoso JC. Iacono D, et al. Among authors: o brien r, pletnikova o. J Neuropathol Exp Neurol. 2008 Jun;67(6):578-89. doi: 10.1097/NEN.0b013e3181772794. J Neuropathol Exp Neurol. 2008. PMID: 18520776 Free PMC article.
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