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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: needham m. 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.
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: needham m. BMJ Open. 2016 Sep 30;6(9):e012054. doi: 10.1136/bmjopen-2016-012054. BMJ Open. 2016. PMID: 27694488 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: needham m. 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.
A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS.
Shefner JM, Andrews JA, Genge A, Jackson C, Lechtzin N, Miller TM, Cockroft BM, Meng L, Wei J, Wolff AA, Malik FI, Bodkin C, Brooks BR, Caress J, Dionne A, Fee D, Goutman SA, Goyal NA, Hardiman O, Hayat G, Heiman-Patterson T, Heitzman D, Henderson RD, Johnston W, Karam C, Kiernan MC, Kolb SJ, Korngut L, Ladha S, Matte G, Mora JS, Needham M, Oskarsson B, Pattee GL, Pioro EP, Pulley M, Quan D, Rezania K, Schellenberg KL, Schultz D, Shoesmith C, Simmons Z, Statland J, Sultan S, Swenson A, Berg LHVD, Vu T, Vucic S, Weiss M, Whyte-Rayson A, Wymer J, Zinman L, Rudnicki SA. Shefner JM, et al. Among authors: needham m. Amyotroph Lateral Scler Frontotemporal Degener. 2021 May;22(3-4):287-299. doi: 10.1080/21678421.2020.1822410. Epub 2020 Sep 24. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 32969758 Free PMC article. Clinical Trial.
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders.
Nabais MF, Laws SM, Lin T, Vallerga CL, Armstrong NJ, Blair IP, Kwok JB, Mather KA, Mellick GD, Sachdev PS, Wallace L, Henders AK, Zwamborn RAJ, Hop PJ, Lunnon K, Pishva E, Roubroeks JAY, Soininen H, Tsolaki M, Mecocci P, Lovestone S, Kłoszewska I, Vellas B; Australian Imaging Biomarkers and Lifestyle study; Alzheimer’s Disease Neuroimaging Initiative; Furlong S, Garton FC, Henderson RD, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson G, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Anderson TJ, Bentley SR, Dalrymple-Alford J, Fowder J, Gratten J, Halliday G, Hickie IB, Kennedy M, Lewis SJG, Montgomery GW, Pearson J, Pitcher TL, Silburn P, Zhang F, Visscher PM, Yang J, Stevenson AJ, Hillary RF, Marioni RE, Harris SE, Deary IJ, Jones AR, Shatunov A, Iacoangeli A, van Rheenen W, van den Berg LH, Shaw PJ, Shaw CE, Morrison KE, Al-Chalabi A, Veldink JH, Hannon E, Mill J, Wray NR, McRae AF. Nabais MF, et al. Among authors: needham m. Genome Biol. 2021 Mar 26;22(1):90. doi: 10.1186/s13059-021-02275-5. Genome Biol. 2021. PMID: 33771206 Free PMC article.
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia.
Restuadi R, Garton FC, Benyamin B, Lin T, Williams KL, Vinkhuyzen A, van Rheenen W, Zhu Z, Laing NG, Mather KA, Sachdev PS, Ngo ST, Steyn FJ, Wallace L, Henders AK, Visscher PM, Needham M, Mathers S, Nicholson G, Rowe DB, Henderson RD, McCombe PA, Pamphlett R, Blair IP, Wray NR, McRae AF. Restuadi R, et al. Among authors: needham m. Eur J Hum Genet. 2022 May;30(5):532-539. doi: 10.1038/s41431-021-00885-y. Epub 2021 Apr 27. Eur J Hum Genet. 2022. PMID: 33907316 Free PMC article.
Safety and efficacy of dimethyl fumarate in ALS: randomised controlled study.
Vucic S, Henderson RD, Mathers S, Needham M, Schultz D, Kiernan MC; TEALS study group. Vucic S, et al. Among authors: needham m. Ann Clin Transl Neurol. 2021 Oct;8(10):1991-1999. doi: 10.1002/acn3.51446. Epub 2021 Sep 3. Ann Clin Transl Neurol. 2021. PMID: 34477330 Free PMC article. Clinical Trial.
MiNDAUS partnership: a roadmap for the cure and management of motor Neurone disease.
Vucic S, Wray N, Henders A, Henderson RD, Talman P, Mathers S, Bellgard M, Aoun S, Birks C, Thomas G, Hansen C, Thomas G, Hogden A, Needham M, Schultz D, Soulis T, Sheean B, Milne J, Rowe D, Zoing M, Kiernan MC. Vucic S, et al. Among authors: needham m. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Aug;23(5-6):321-328. doi: 10.1080/21678421.2021.1980889. Epub 2021 Sep 30. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34590512 Review.
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Restuadi R, Steyn FJ, Kabashi E, Ngo ST, Cheng FF, Nabais MF, Thompson MJ, Qi T, Wu Y, Henders AK, Wallace L, Bye CR, Turner BJ, Ziser L, Mathers S, McCombe PA, Needham M, Schultz D, Kiernan MC, van Rheenen W, van den Berg LH, Veldink JH, Ophoff R, Gusev A, Zaitlen N, McRae AF, Henderson RD, Wray NR, Giacomotto J, Garton FC. Restuadi R, et al. Among authors: needham m. Genome Med. 2022 Jan 19;14(1):7. doi: 10.1186/s13073-021-01006-6. Genome Med. 2022. PMID: 35042540 Free PMC article.
460 results