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An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.
Troakes C, Maekawa S, Wijesekera L, Rogelj B, Siklós L, Bell C, Smith B, Newhouse S, Vance C, Johnson L, Hortobágyi T, Shatunov A, Al-Chalabi A, Leigh N, Shaw CE, King A, Al-Sarraj S. Troakes C, et al. Neuropathology. 2012 Oct;32(5):505-14. doi: 10.1111/j.1440-1789.2011.01286.x. Epub 2011 Dec 19. Neuropathology. 2012. PMID: 22181065
The epidemiology and treatment of ALS: focus on the heterogeneity of the disease and critical appraisal of therapeutic trials.
Beghi E, Chiò A, Couratier P, Esteban J, Hardiman O, Logroscino G, Millul A, Mitchell D, Preux PM, Pupillo E, Stevic Z, Swingler R, Traynor BJ, Van den Berg LH, Veldink JH, Zoccolella S; Eurals Consortium. Beghi E, et al. Amyotroph Lateral Scler. 2011 Jan;12(1):1-10. doi: 10.3109/17482968.2010.502940. Epub 2010 Aug 11. Amyotroph Lateral Scler. 2011. PMID: 20698807 Free PMC article. Review.
A longitudinal study of diffusion tensor MRI in ALS.
Blain CR, Williams VC, Johnston C, Stanton BR, Ganesalingam J, Jarosz JM, Jones DK, Barker GJ, Williams SC, Leigh NP, Simmons A. Blain CR, et al. Among authors: leigh np. Amyotroph Lateral Scler. 2007 Dec;8(6):348-55. doi: 10.1080/17482960701548139. Epub 2007 Oct 8. Amyotroph Lateral Scler. 2007. PMID: 17924235
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. Sci Transl Med. 2017 May 3;9(388):eaad9157. doi: 10.1126/scitranslmed.aad9157. Sci Transl Med. 2017. PMID: 28469040 Free PMC article.
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.
Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P. Lambrechts D, et al. Nat Genet. 2003 Aug;34(4):383-94. doi: 10.1038/ng1211. Nat Genet. 2003. PMID: 12847526 Free article.
38 results