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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cich… See abstract for full author list ➔ van Rheenen W, et al. Among authors: sachdev ps. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.
Luty AA, Kwok JB, Dobson-Stone C, Loy CT, Coupland KG, Karlström H, Sobow T, Tchorzewska J, Maruszak A, Barcikowska M, Panegyres PK, Zekanowski C, Brooks WS, Williams KL, Blair IP, Mather KA, Sachdev PS, Halliday GM, Schofield PR. Luty AA, et al. Among authors: sachdev ps. Ann Neurol. 2010 Nov;68(5):639-49. doi: 10.1002/ana.22274. Ann Neurol. 2010. PMID: 21031579
Grey matter atrophy of basal forebrain and hippocampus in mild cognitive impairment.
Zhang H, Trollor JN, Wen W, Zhu W, Crawford JD, Kochan NA, Slavin MJ, Brodaty H, Reppermund S, Kang K, Mather KA, Sachdev PS. Zhang H, et al. Among authors: sachdev ps. J Neurol Neurosurg Psychiatry. 2011 May;82(5):487-93. doi: 10.1136/jnnp.2010.217133. Epub 2010 Nov 3. J Neurol Neurosurg Psychiatry. 2011. PMID: 21047881
The genetics of white matter lesions.
Assareh A, Mather KA, Schofield PR, Kwok JB, Sachdev PS. Assareh A, et al. Among authors: sachdev ps. CNS Neurosci Ther. 2011 Oct;17(5):525-40. doi: 10.1111/j.1755-5949.2010.00181.x. Epub 2010 Jul 7. CNS Neurosci Ther. 2011. PMID: 21951372 Free PMC article. Review.
764 results