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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 … See abstract for full author list ➔ van Rheenen W, et al. Among authors: bell s. 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.
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH. Harms MB, et al. Among authors: bell s. Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14. Ann Neurol. 2012. PMID: 22334415 Free PMC article.
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion.
Sareen D, O'Rourke JG, Meera P, Muhammad AK, Grant S, Simpkinson M, Bell S, Carmona S, Ornelas L, Sahabian A, Gendron T, Petrucelli L, Baughn M, Ravits J, Harms MB, Rigo F, Bennett CF, Otis TS, Svendsen CN, Baloh RH. Sareen D, et al. Among authors: bell s. Sci Transl Med. 2013 Oct 23;5(208):208ra149. doi: 10.1126/scitranslmed.3007529. Sci Transl Med. 2013. PMID: 24154603 Free PMC article.
Cell transplantation strategies for acquired and inherited disorders of peripheral myelin.
Muhammad AKMG, Kim K, Epifantseva I, Aghamaleky-Sarvestany A, Simpkinson ME, Carmona S, Landeros J, Bell S, Svaren J, Baloh RH. Muhammad AKMG, et al. Among authors: bell s. Ann Clin Transl Neurol. 2018 Jan 22;5(2):186-200. doi: 10.1002/acn3.517. eCollection 2018 Feb. Ann Clin Transl Neurol. 2018. PMID: 29468179 Free PMC article.
Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder.
Mukherjee-Clavin B, Mi R, Kern B, Choi IY, Lim H, Oh Y, Lannon B, Kim KJ, Bell S, Hur JK, Hwang W, Che YH, Habib O, Baloh RH, Eggan K, Brandacher G, Hoke A, Studer L, Kim YJ, Lee G. Mukherjee-Clavin B, et al. Among authors: bell s. Nat Biomed Eng. 2019 Jul;3(7):571-582. doi: 10.1038/s41551-019-0381-8. Epub 2019 Apr 8. Nat Biomed Eng. 2019. PMID: 30962586 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. Among authors: bell s. 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.
3,828 results