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Page 1
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Harms MB, et al. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459677 Free PMC article.
C9orf72 is required for proper macrophage and microglial function in mice.
O'Rourke JG, Bogdanik L, Yáñez A, Lall D, Wolf AJ, Muhammad AK, Ho R, Carmona S, Vit JP, Zarrow J, Kim KJ, Bell S, Harms MB, Miller TM, Dangler CA, Underhill DM, Goodridge HS, Lutz CM, Baloh RH. O'Rourke JG, et al. Among authors: harms mb. Science. 2016 Mar 18;351(6279):1324-9. doi: 10.1126/science.aaf1064. Science. 2016. PMID: 26989253 Free PMC article.
Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers.
Cammack AJ, Atassi N, Hyman T, van den Berg LH, Harms M, Baloh RH, Brown RH, van Es MA, Veldink JH, de Vries BS, Rothstein JD, Drain C, Jockel-Balsarotti J, Malcolm A, Boodram S, Salter A, Wightman N, Yu H, Sherman AV, Esparza TJ, McKenna-Yasek D, Owegi MA, Douthwright C; Alzheimer's Disease Neuroimaging Initiative; McCampbell A, Ferguson T, Cruchaga C, Cudkowicz M, Miller TM. Cammack AJ, et al. Neurology. 2019 Oct 22;93(17):e1605-e1617. doi: 10.1212/WNL.0000000000008359. Epub 2019 Oct 2. Neurology. 2019. PMID: 31578300 Free PMC article.
C9orf72 in myeloid cells suppresses STING-induced inflammation.
McCauley ME, O'Rourke JG, Yáñez A, Markman JL, Ho R, Wang X, Chen S, Lall D, Jin M, Muhammad AKMG, Bell S, Landeros J, Valencia V, Harms M, Arditi M, Jefferies C, Baloh RH. McCauley ME, et al. Nature. 2020 Sep;585(7823):96-101. doi: 10.1038/s41586-020-2625-x. Epub 2020 Aug 19. Nature. 2020. PMID: 32814898 Free PMC article.
C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, Mayeux R, Chakraverty S, Goate AM, Cruchaga C; NIA-LOAD/NCRAD Family Study Consortium. Harms M, et al. JAMA Neurol. 2013 Jun;70(6):736-41. doi: 10.1001/2013.jamaneurol.537. JAMA Neurol. 2013. PMID: 23588422 Free PMC article.
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium; Majewski J, Bulman DE, Boycott KM, Dyment DA. Chardon JW, et al. Among authors: harms mb. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26. Clin Genet. 2015. PMID: 25589244
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: harms mb. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Tau positron emission tomography imaging in C9orf72 repeat expansion carriers.
Ly CV, Koenig L, Christensen J, Gordon B, Beaumont H, Dahiya S, Chen J, Su Y, Nelson B, Jockel-Balsarotti J, Drain C, Jerome G, Morris JC, Fagan AM, Harms MB, Benzinger TLS, Miller TM, Ances BM. Ly CV, et al. Among authors: harms mb. Eur J Neurol. 2019 Sep;26(9):1235-1239. doi: 10.1111/ene.13940. Epub 2019 Mar 25. Eur J Neurol. 2019. PMID: 30790403 Free PMC article.
102 results