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Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.
Reichenstein I, Eitan C, Diaz-Garcia S, Haim G, Magen I, Siany A, Hoye ML, Rivkin N, Olender T, Toth B, Ravid R, Mandelbaum AD, Yanowski E, Liang J, Rymer JK, Levy R, Beck G, Ainbinder E, Farhan SMK, Lennox KA, Bode NM, Behlke MA, Möller T, Saxena S, Moreno CAM, Costaguta G, van Eijk KR, Phatnani H, Al-Chalabi A, Başak AN, van den Berg LH, Hardiman O, Landers JE, Mora JS, Morrison KE, Shaw PJ, Veldink JH, Pfaff SL, Yizhar O, Gross C, Brown RH Jr, Ravits JM, Harms MB, Miller TM, Hornstein E. Reichenstein I, et al. Among authors: hardiman o. Sci Transl Med. 2019 Dec 18;11(523):eaav5264. doi: 10.1126/scitranslmed.aav5264. Sci Transl Med. 2019. PMID: 31852800 Free PMC article.
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O. Greenway MJ, et al. Among authors: hardiman o. Nat Genet. 2006 Apr;38(4):411-3. doi: 10.1038/ng1742. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501576
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).
Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM; MRC Proteomics in ALS Study; FReJA Consortium. Parkinson N, et al. Among authors: hardiman o. Neurology. 2006 Sep 26;67(6):1074-7. doi: 10.1212/01.wnl.0000231510.89311.8b. Epub 2006 Jun 28. Neurology. 2006. PMID: 16807408
501 results