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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: hamdalla h. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium; Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ. Majounie E, et al. Lancet Neurol. 2012 Apr;11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1. Epub 2012 Mar 9. Lancet Neurol. 2012. PMID: 22406228 Free PMC article.
Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.
Davidson Y, Robinson AC, Liu X, Wu D, Troakes C, Rollinson S, Masuda-Suzukake M, Suzuki G, Nonaka T, Shi J, Tian J, Hamdalla H, Ealing J, Richardson A, Jones M, Pickering-Brown S, Snowden JS, Hasegawa M, Mann DM. Davidson Y, et al. Among authors: hamdalla h. Neuropathol Appl Neurobiol. 2016 Apr;42(3):242-54. doi: 10.1111/nan.12292. Epub 2015 Dec 7. Neuropathol Appl Neurobiol. 2016. PMID: 26538301 Free PMC article.
Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy.
Behrouzi R, Liu X, Wu D, Robinson AC, Tanaguchi-Watanabe S, Rollinson S, Shi J, Tian J, Hamdalla HH, Ealing J, Richardson A, Jones M, Pickering-Brown S, Davidson YS, Strong MJ, Hasegawa M, Snowden JS, Mann DM. Behrouzi R, et al. Among authors: hamdalla hh. Acta Neuropathol Commun. 2016 Mar 31;4:33. doi: 10.1186/s40478-016-0301-z. Acta Neuropathol Commun. 2016. PMID: 27036121 Free PMC article.
DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial.
McDermott CJ, Bradburn MJ, Maguire C, Cooper CL, Baird WO, Baxter SK, Cohen J, Cantrill H, Dixon S, Ackroyd R, Baudouin S, Bentley A, Berrisford R, Bianchi S, Bourke SC, Darlison R, Ealing J, Elliott M, Fitzgerald P, Galloway S, Hamdalla H, Hanemann CO, Hughes P, Imam I, Karat D, Leek R, Maynard N, Orrell RW, Sarela A, Stradling J, Talbot K, Taylor L, Turner M, Simonds AK, Williams T, Wedzicha W, Young C, Shaw PJ. McDermott CJ, et al. Among authors: hamdalla h. Health Technol Assess. 2016 Jun;20(45):1-186. doi: 10.3310/hta20450. Health Technol Assess. 2016. PMID: 27353839 Free PMC article. Clinical Trial.
Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.
van Eijk RPA, Jones AR, Sproviero W, Shatunov A, Shaw PJ, Leigh PN, Young CA, Shaw CE, Mora G, Mandrioli J, Borghero G, Volanti P, Diekstra FP, van Rheenen W, Verstraete E, Eijkemans MJC, Veldink JH, Chio A, Al-Chalabi A, van den Berg LH, van Es MA; For UKMND-LiCALS and LITALS Study Group. van Eijk RPA, et al. Neurology. 2017 Oct 31;89(18):1915-1922. doi: 10.1212/WNL.0000000000004606. Epub 2017 Oct 4. Neurology. 2017. PMID: 28978660 Free PMC article. Review.
FUS-ALS presenting with myoclonic jerks in a 17-year-old man.
Dodd KC, Power R, Ealing J, Hamdalla H. Dodd KC, et al. Among authors: hamdalla h. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):278-280. doi: 10.1080/21678421.2019.1582665. Epub 2019 Mar 18. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 30879340
37 results