Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

Autor: 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, Basak, N, van der Kooi, AJ, Ratti, A, Fogh, I, Gellera, C, Lauria, G, Corti, S, Cereda, C, Sproviero, D, Soraru, G, Siciliano, G, Filosto, M, Padovani, A, Chio, 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, Pardina, JMS, Assialioui, A, Rojas-Garcia, 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, Cichon, S, Nothen, MM, Amouyel, P, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Cotelli, MS, Rinaldi, F, Chiveri, L, Guaita, MC, Perrone, P, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, ML, Bono, G, Manera, U, Vasta, R, Bombaci, A, Casale, F, Fuda, G, Salamone, P, Iazzolino, B, Peotta, L, Cugnasco, P, De Marco, G, Torrieri, MC, Palumbo, F, Gallone, S, Barberis, M, Sbaiz, L, Gentile, S, Mauro, A, De Marchi, F, D'Alfonso, S, Bertolotto, A, Gionco, M, Leotta, D, Odddenino, E, Imperiale, D, Cavallo, R, Pignatta, P, De Mattei, M, Geda, C, Papurello, DM, Gusmaroli, G, Comi, C, Labate, C, Ruiz, L, Ferrandi, D, Rota, E, Aguggia, M, Di Vito, N, Meineri, P, Ghiglione, P, Launaro, N, Dotta, M, Di Sapio, A, Giardini, G, Tiloca, C, Peverelli, S, Taroni, F, Pensato, V, Castellotti, B, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Corrado, L, Mazzini, L, Raggi, F, Simoncini, C, Lo Gerfo, A, Inghilleri, M, Ferlini, A, Simone, IL, Passarella, B, Guerra, V, Zoccolella, S, Nozzoli, C, Mundi, C, Leone, M, Zarrelli, M, Tamma, F, Valluzzi, F, Calabrese, G, Boero, G, Rini, A, Traynor, BJ, Singleton, AB, Neto, MM, Cauchi, RJ, Ophoff, RA, Wiedau-Pazos, M, Lomen-Hoerth, C, van Deerlin, VM, Grosskreutz, J, Roediger, A, Gaur, N, Jork, A, Barthel, T, Theele, E, Ilse, B, Stubendorff, B, Witte, OW, Steinbach, R, Hubner, CA, Graff, C, Brylev, L, Fominykh, V, Demeshonok, V, Ataulina, A, Rogelj, B, Koritnik, B, Zidar, J, Ravnik-Glavac, M, Glavac, D, Stevic, Z, Drory, V, Povedano, M, Blair, IP, Kiernan, MC, Benyamin, B, Henderson, RD, Furlong, S, Mathers, S, McCombe, PA, Needham, M, Ngo, ST, Nicholson, GA, Pamphlett, R, Rowe, DB, Steyn, FJ, Williams, KL, Mather, KA, Sachdev, PS, Henders, AK, Wallace, L, de Carvalho, M, Pinto, S, Petri, S, Weber, M, Rouleau, GA, Silani, V, Curtis, CJ, Breen, G, Glass, JD, Brown, RH, Landers, JE, Shaw, CE, Andersen, PM, Groen, EJN, van Es, MA, Pasterkamp, RJ, Fan, DS, Garton, FC, McRae, AF, Smith, GD, Gaunt, TR, Eberle, MA, Mill, J, McLaughlin, RL, Hardiman, O, Kenna, KP, Wray, NR, Tsai, EL, Runz, H, Franke, L, Al-Chalabi, A, Van Damme, P, van den Berg, LH, Veldink, JH, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium

Publikováno v: NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::14d0bed056ea6e9b6c5550b9e67e8ce3
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8163

Characterization of the skeletal muscle arginine methylome in health and disease reveals remodeling in amyotrophic lateral sclerosis.

Autor: Wong JPH; Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.; Centre for Muscle Research, The University of Melbourne, Melbourne, Victoria, Australia., Blazev R; Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.; Centre for Muscle Research, The University of Melbourne, Melbourne, Victoria, Australia., Ng YK; Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.; Centre for Muscle Research, The University of Melbourne, Melbourne, Victoria, Australia., Goodman CA; Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.; Centre for Muscle Research, The University of Melbourne, Melbourne, Victoria, Australia., Montgomery MK; Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia., Watt KI; Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Victoria, Australia.; The Novo Nordisk Foundation Centre for Stem Cell Medicine (reNEW), Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Carl CS; August Krogh Section for Molecular Physiology, Department of Nutrition, Exercise and Sports, Faculty of Science, The University of Copenhagen, Copenhagen, Denmark., Watt MJ; Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia., Voldstedlund CT; August Krogh Section for Molecular Physiology, Department of Nutrition, Exercise and Sports, Faculty of Science, The University of Copenhagen, Copenhagen, Denmark., Richter EA; August Krogh Section for Molecular Physiology, Department of Nutrition, Exercise and Sports, Faculty of Science, The University of Copenhagen, Copenhagen, Denmark., Crouch PJ; Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.; Centre for Muscle Research, The University of Melbourne, Melbourne, Victoria, Australia., Steyn FJ; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; School of Biomedical Sciences, The University of Queensland, Brisbane, Queensland, Australia., Ngo ST; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia.; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia., Parker BL; Department of Anatomy and Physiology, The University of Melbourne, Melbourne, Victoria, Australia.; Centre for Muscle Research, The University of Melbourne, Melbourne, Victoria, Australia.

Publikováno v: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2024 May 31; Vol. 38 (10), pp. e23647.

Variation in Resting Metabolic Rate Affects Identification of Metabolic Change in Geographically Distinct Cohorts of Patients With ALS.

Autor: Holdom CJ; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., Janse van Mantgem MR; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., He J; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., Howe SL; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., McCombe PA; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., Fan D; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., van den Berg LH; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., Henderson RD; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., van Eijk R; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., Steyn FJ; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia., Ngo ST; From the Australian Institute for Bioengineering and Nanotechnology (C.J.H., S.L.H., S.T.N.), The University of Queensland, Australia; Department of Neurology (M.R.J.M., R.P.A.E., L.H.B.), UMC Utrecht Brain Centre, University Medical Centre Utrecht, The Netherlands; Department of Neurology (D.F.), Peking University Third Hospital; Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases (D.F.), China; Centre for Clinical Research (P.A.M., R.D.H., F.J.S., S.T.N.), The University of Queensland; Department of Neurology (P.A.M., R.D.H., F.J.S., S.T.N.), Royal Brisbane and Women's Hospital, Australia; Biostatistics and Research Support (R.P.A.E.), Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, The Netherlands; and School of Biomedical Sciences (F.J.S.), The University of Queensland, Australia.

Publikováno v: Neurology [Neurology] 2024 Mar 12; Vol. 102 (5), pp. e208117. Date of Electronic Publication: 2024 Feb 13.

Associations of postprandial ghrelin, liver-expressed antimicrobial peptide 2 and leptin levels with body composition, disease progression and survival in patients with amyotrophic lateral sclerosis.

Autor: Howe SL; Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia., Holdom CJ; Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia.; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia., McCombe PA; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia.; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Henderson RD; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia.; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Zigman JM; Center for Hypothalamic Research, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Ngo ST; Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia.; Centre for Clinical Research, The University of Queensland, Brisbane, Queensland, Australia.; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Steyn FJ; Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; School of Biomedical Sciences, The University of Queensland, Brisbane, Queensland, Australia.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Jan; Vol. 31 (1), pp. e16052. Date of Electronic Publication: 2023 Sep 01.

Use of hip- versus wrist-based actigraphy for assessing functional decline and disease progression in patients with motor neuron disease.

Autor: Holdom CJ; Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Australia., van Unnik JWJ; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., van Eijk RPA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Biostatistics and Research Support, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands., van den Berg LH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Henderson RD; Centre for Clinical Research, The University of Queensland, Brisbane, Australia.; Department of Neurology, Royal Brisbane and Women's Hospital, Herston, Australia.; Wesley Medical Research, The Wesley Hospital, Brisbane, Australia., Ngo ST; Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Australia.; Department of Neurology, Royal Brisbane and Women's Hospital, Herston, Australia.; Wesley Medical Research, The Wesley Hospital, Brisbane, Australia., Steyn FJ; Department of Neurology, Royal Brisbane and Women's Hospital, Herston, Australia. f.steyn@uq.edu.au.; Wesley Medical Research, The Wesley Hospital, Brisbane, Australia. f.steyn@uq.edu.au.; School of Biomedical Sciences, Faculty of Medicine, The University of Queensland, Brisbane, Australia. f.steyn@uq.edu.au.

Publikováno v: Journal of neurology [J Neurol] 2023 May; Vol. 270 (5), pp. 2597-2605. Date of Electronic Publication: 2023 Feb 06.