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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: nestor pj. Sci Transl Med. 2017 May 3;9(388):eaad9157. doi: 10.1126/scitranslmed.aad9157. Sci Transl Med. 2017. PMID: 28469040 Free PMC article.
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE. Smith BN, et al. Among authors: nestor pj. Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692064 Free PMC article.
Hippocampal degeneration in patients with amyotrophic lateral sclerosis.
Abdulla S, Machts J, Kaufmann J, Patrick K, Kollewe K, Dengler R, Heinze HJ, Petri S, Vielhaber S, Nestor PJ. Abdulla S, et al. Among authors: nestor pj. Neurobiol Aging. 2014 Nov;35(11):2639-2645. doi: 10.1016/j.neurobiolaging.2014.05.035. Epub 2014 Jun 11. Neurobiol Aging. 2014. PMID: 25004891
Clinical utility of FDG-PET in amyotrophic lateral sclerosis and Huntington's disease.
Agosta F, Altomare D, Festari C, Orini S, Gandolfo F, Boccardi M, Arbizu J, Bouwman F, Drzezga A, Nestor P, Nobili F, Walker Z, Pagani M; EANM-EAN Task Force for the Prescription of FDG-PET for Dementing Neurodegenerative Disorders. Agosta F, et al. Eur J Nucl Med Mol Imaging. 2018 Jul;45(9):1546-1556. doi: 10.1007/s00259-018-4033-0. Epub 2018 May 1. Eur J Nucl Med Mol Imaging. 2018. PMID: 29717332 Review.
Quantitative Susceptibility MRI to Detect Brain Iron in Amyotrophic Lateral Sclerosis.
Acosta-Cabronero J, Machts J, Schreiber S, Abdulla S, Kollewe K, Petri S, Spotorno N, Kaufmann J, Heinze HJ, Dengler R, Vielhaber S, Nestor PJ. Acosta-Cabronero J, et al. Among authors: nestor pj. Radiology. 2018 Oct;289(1):195-203. doi: 10.1148/radiol.2018180112. Epub 2018 Jul 24. Radiology. 2018. PMID: 30040038 Free PMC article.
Peripheral nerve atrophy together with higher cerebrospinal fluid progranulin indicate axonal damage in amyotrophic lateral sclerosis.
Schreiber S, Debska-Vielhaber G, Abdulla S, Machts J, Schreiber F, Kropf S, KÖrtvelyessy P, KÖrner S, Kollewe K, Petri S, Dengler R, Kunz WS, Nestor PJ, Vielhaber S. Schreiber S, et al. Among authors: nestor pj. Muscle Nerve. 2018 Feb;57(2):273-278. doi: 10.1002/mus.25682. Epub 2017 May 22. Muscle Nerve. 2018. PMID: 28472860
143 results