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Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
Smith BN, Vance C, Scotter EL, Troakes C, Wong CH, Topp S, Maekawa S, King A, Mitchell JC, Lund K, Al-Chalabi A, Ticozzi N, Silani V, Sapp P, Brown RH Jr, Landers JE, Al-Sarraj S, Shaw CE. Smith BN, et al. Among authors: mitchell jc. Neurobiol Aging. 2015 Mar;36(3):1602.e17-27. doi: 10.1016/j.neurobiolaging.2014.10.032. Epub 2014 Oct 31. Neurobiol Aging. 2015. PMID: 25499087 Free PMC article.
Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology.
Tudor EL, Galtrey CM, Perkinton MS, Lau KF, De Vos KJ, Mitchell JC, Ackerley S, Hortobágyi T, Vámos E, Leigh PN, Klasen C, McLoughlin DM, Shaw CE, Miller CC. Tudor EL, et al. Among authors: mitchell jc. Neuroscience. 2010 May 19;167(3):774-85. doi: 10.1016/j.neuroscience.2010.02.035. Epub 2010 Feb 24. Neuroscience. 2010. PMID: 20188146
Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS.
Mitchell JC, Constable R, So E, Vance C, Scotter E, Glover L, Hortobagyi T, Arnold ES, Ling SC, McAlonis M, Da Cruz S, Polymenidou M, Tessarolo L, Cleveland DW, Shaw CE. Mitchell JC, et al. Acta Neuropathol Commun. 2015 Jun 25;3:36. doi: 10.1186/s40478-015-0212-4. Acta Neuropathol Commun. 2015. PMID: 26108367 Free PMC article.
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH Jr, Silani V, Landers JE, Shaw CE. Smith BN, et al. Among authors: mitchell jc. Sci Transl Med. 2017 May 3;9(388):eaad9157. doi: 10.1126/scitranslmed.aad9157. Sci Transl Med. 2017. PMID: 28469040 Free PMC article.
400 results