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Page 1
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.
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.
Significance of CSF NfL and tau in ALS.
Schreiber S, Spotorno N, Schreiber F, Acosta-Cabronero J, Kaufmann J, Machts J, Debska-Vielhaber G, Garz C, Bittner D, Hensiek N, Dengler R, Petri S, Nestor PJ, Vielhaber S. Schreiber S, et al. Among authors: nestor pj. J Neurol. 2018 Nov;265(11):2633-2645. doi: 10.1007/s00415-018-9043-0. Epub 2018 Sep 5. J Neurol. 2018. PMID: 30187162
Which ante mortem clinical features predict progressive supranuclear palsy pathology?
Respondek G, Kurz C, Arzberger T, Compta Y, Englund E, Ferguson LW, Gelpi E, Giese A, Irwin DJ, Meissner WG, Nilsson C, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Whitwell JL, Antonini A, Bhatia KP, Bordelon Y, Corvol JC, Colosimo C, Dodel R, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris H, Nestor P, Oertel WH, Rabinovici GD, Rowe JB, van Eimeren T, Wenning GK, Boxer A, Golbe LI, Litvan I, Stamelou M, Höglinger GU; Movement Disorder Society-Endorsed PSP Study Group. Respondek G, et al. Mov Disord. 2017 Jul;32(7):995-1005. doi: 10.1002/mds.27034. Epub 2017 May 13. Mov Disord. 2017. PMID: 28500752 Free PMC article. Review.
Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.
Höglinger GU, Respondek G, Stamelou M, Kurz C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Nilsson C, Whitwell JL, Arzberger T, Englund E, Gelpi E, Giese A, Irwin DJ, Meissner WG, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Antonini A, Bhatia KP, Bordelon Y, Compta Y, Corvol JC, Colosimo C, Dickson DW, Dodel R, Ferguson L, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris HR, Nestor P, Oertel WH, Poewe W, Rabinovici G, Rowe JB, Schellenberg GD, Seppi K, van Eimeren T, Wenning GK, Boxer AL, Golbe LI, Litvan I; Movement Disorder Society-endorsed PSP Study Group. Höglinger GU, et al. Mov Disord. 2017 Jun;32(6):853-864. doi: 10.1002/mds.26987. Epub 2017 May 3. Mov Disord. 2017. PMID: 28467028 Free PMC article.
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.
Focal cortical presentations of Alzheimer's disease.
Alladi S, Xuereb J, Bak T, Nestor P, Knibb J, Patterson K, Hodges JR. Alladi S, et al. Brain. 2007 Oct;130(Pt 10):2636-45. doi: 10.1093/brain/awm213. Brain. 2007. PMID: 17898010
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
143 results