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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: mathers 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.
Natural history and clinical features of the flail arm and flail leg ALS variants.
Wijesekera LC, Mathers S, Talman P, Galtrey C, Parkinson MH, Ganesalingam J, Willey E, Ampong MA, Ellis CM, Shaw CE, Al-Chalabi A, Leigh PN. Wijesekera LC, et al. Among authors: mathers s. Neurology. 2009 Mar 24;72(12):1087-94. doi: 10.1212/01.wnl.0000345041.83406.a2. Neurology. 2009. PMID: 19307543 Free PMC article.
Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort.
Talman P, Duong T, Vucic S, Mathers S, Venkatesh S, Henderson R, Rowe D, Schultz D, Edis R, Needham M, Macdonnell R, McCombe P, Birks C, Kiernan M. Talman P, et al. Among authors: mathers s. BMJ Open. 2016 Sep 30;6(9):e012054. doi: 10.1136/bmjopen-2016-012054. BMJ Open. 2016. PMID: 27694488 Free PMC article.
Motor neurone disease: progress and challenges.
Dharmadasa T, Henderson RD, Talman PS, Macdonell RA, Mathers S, Schultz DW, Needham M, Zoing M, Vucic S, Kiernan MC. Dharmadasa T, et al. Among authors: mathers s. Med J Aust. 2017 May 1;206(8):357-362. doi: 10.5694/mja16.01063. Med J Aust. 2017. PMID: 28446118 Review.
Safety and tolerability of Triumeq in amyotrophic lateral sclerosis: the Lighthouse trial.
Gold J, Rowe DB, Kiernan MC, Vucic S, Mathers S, van Eijk RPA, Nath A, Garcia Montojo M, Norato G, Santamaria UA, Rogers ML, Malaspina A, Lombardi V, Mehta PR, Westeneng HJ, van den Berg LH, Al-Chalabi A. Gold J, et al. Among authors: mathers s. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(7-8):595-604. doi: 10.1080/21678421.2019.1632899. Epub 2019 Jul 8. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 31284774
Phase 2 randomized placebo controlled double blind study to assess the efficacy and safety of tecfidera in patients with amyotrophic lateral sclerosis (TEALS Study): Study protocol clinical trial (SPIRIT Compliant).
Vucic S, Ryder J, Mekhael L, Rd H, Mathers S, Needham M, Dw S, Mc K; TEALS study group. Vucic S, et al. Among authors: mathers s. Medicine (Baltimore). 2020 Feb;99(6):e18904. doi: 10.1097/MD.0000000000018904. Medicine (Baltimore). 2020. PMID: 32028398 Free PMC article.
Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis.
Nabais MF, Lin T, Benyamin B, Williams KL, Garton FC, Vinkhuyzen AAE, Zhang F, Vallerga CL, Restuadi R, Freydenzon A, Zwamborn RAJ, Hop PJ, Robinson MR, Gratten J, Visscher PM, Hannon E, Mill J, Brown MA, Laing NG, Mather KA, Sachdev PS, Ngo ST, Steyn FJ, Wallace L, Henders AK, Needham M, Veldink JH, Mathers S, Nicholson G, Rowe DB, Henderson RD, McCombe PA, Pamphlett R, Yang J, Blair IP, McRae AF, Wray NR. Nabais MF, et al. Among authors: mathers s. NPJ Genom Med. 2020 Feb 27;5:10. doi: 10.1038/s41525-020-0118-3. eCollection 2020. NPJ Genom Med. 2020. PMID: 32140259 Free PMC article.
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics.
Iacoangeli A, Lin T, Al Khleifat A, Jones AR, Opie-Martin S, Coleman JRI, Shatunov A, Sproviero W, Williams KL, Garton F, Restuadi R, Henders AK, Mather KA, Needham M, Mathers S, Nicholson GA, Rowe DB, Henderson R, McCombe PA, Pamphlett R, Blair IP, Schultz D, Sachdev PS, Newhouse SJ, Proitsi P, Fogh I, Ngo ST, Dobson RJB, Wray NR, Steyn FJ, Al-Chalabi A. Iacoangeli A, et al. Among authors: mathers s. Cell Rep. 2020 Oct 27;33(4):108323. doi: 10.1016/j.celrep.2020.108323. Cell Rep. 2020. PMID: 33113361 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33579987
Inhibition of HERV-K (HML-2) in amyotrophic lateral sclerosis patients on antiretroviral therapy.
Garcia-Montojo M, Fathi S, Norato G, Smith BR, Rowe DB, Kiernan MC, Vucic S, Mathers S, van Eijk RPA, Santamaria U, Rogers ML, Malaspina A, Lombardi V, Mehta PR, Westeneng HJ, van den Berg LH, Al-Chalabi A, Gold J, Nath A. Garcia-Montojo M, et al. Among authors: mathers s. J Neurol Sci. 2021 Apr 15;423:117358. doi: 10.1016/j.jns.2021.117358. Epub 2021 Feb 23. J Neurol Sci. 2021. PMID: 33653604 Free PMC article.
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