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
instname

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::14d0bed056ea6e9b6c5550b9e67e8ce3
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8163

Practical and clinical utility of non-invasive vagus nerve stimulation (nVNS) for the acute treatment of migraine: a post hoc analysis of the randomized, sham-controlled, double-blind PRESTO trial

Autor: Licia GrazziEmail author, Cristina, Tassorelli, Marina de Tommaso, Giulia, Pierangeli, Paolo, Martelletti, Rainero, Innocenzo, Pierangelo, Geppetti, Anna, Ambrosini, Paola, Sarchielli, Eric, Liebler, Tassorelli C, Piero Barbanti PRESTO Study Group., Bitetto, V, De Icco, R, Martinelli, D, Sances, G, Bianchi, M, Grazzi, L, Padovan, Am, de Tommaso, M, Ricci, K, Vecchio, E, Cortelli, P, Cevoli, S, Pierangeli, G, Terlizzi, R, Martelletti, P, Negro, A, Chiariello, Ga, Rainero, I, De Martino, P, Gai, A, Govone, F, Masuzzo, F, Rubino, E, Torrieri, Mc, Vacca, A, Geppetti, P, Chiarugi, A, De Cesaris, F, Puma, Sl, Lupi, C, Marone, I, Ambrosini, A, Perrotta, A, Sarchielli, P, Bernetti, L, Corbelli, I, Romoli, M, Simoni, S, Verzina, A, Barbanti, P, Aurilia, C, Egeo, G, Fofi, L, Liebler, E, Andersson, A, Spitzer, L, Marin, J, Mcclure, C, Thackeray, L, Baldi, Mg, Di Maro, D.

Publikováno v: The Journal of Headache and Pain, Vol 19, Iss 1, Pp 1-9 (2018)
The Journal of Headache and Pain

Background The PRESTO study of non-invasive vagus nerve stimulation (nVNS; gammaCore®) featured key primary and secondary end points recommended by the International Headache Society to provide Class I evidence that for patients with an episodic mig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51a5c88ded3138118717ad6d48706a6
http://link.springer.com/article/10.1186/s10194-018-0928-1

REVEALS-a longitudinal cohort study of multifaceted respiratory assessment in ALS.

Autor: Rooney J; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.; Institute and Clinic for Occupational, Social and Environmental Medicine, University Hospital, LMU Munich, Munich, Germany., Murray D; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.; Beaumont Hospital, Dublin, Ireland., Meldrum D; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland., Al-Chalabi A; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.; Department of Neurology, King's College Hospital, London, UK., Bunte T; UMC Utrecht, Utrecht, The Netherlands., Chiwera T; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.; Department of Neurology, King's College Hospital, London, UK., Choudhury M; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.; Department of Neurology, King's College Hospital, London, UK., Chio A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Neurology 1, Azienda Ospedale Università Città della Salute e della Scienza, Turin, Italy., Fenton L; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland., Fortune J; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland., Maidment L; Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK., Manera U; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Neurology 1, Azienda Ospedale Università Città della Salute e della Scienza, Turin, Italy., McDermott CJ; Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK.; Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Meyjes M; UMC Utrecht, Utrecht, The Netherlands., Tattersall R; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.; Beaumont Hospital, Dublin, Ireland., Torrieri MC; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Van Damme P; Neurology Department, KU Leuven, University Hospitals Leuven, Leuven, Belgium, and.; Department of Neuroscience, KU Leuven, Leuven Brain Institute and VIB Center for Brain & Disease Research, Leuven, Belgium., Vanderlinden E; Neurology Department, KU Leuven, University Hospitals Leuven, Leuven, Belgium, and., Wood C; Department of Basic and Clinical Neuroscience, King's College London, Maurice Wohl Clinical Neuroscience Institute, London, UK.; Department of Neurology, King's College Hospital, London, UK., van den Berg LH; UMC Utrecht, Utrecht, The Netherlands., Hardiman O; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.; Beaumont Hospital, Dublin, Ireland.

Publikováno v: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2024 Nov; Vol. 25 (7-8), pp. 661-671. Date of Electronic Publication: 2024 Jun 06.

Calculated Maximal Volume Ventilation (cMVV) as a Marker of Early Respiratory Failure in Amyotrophic Lateral Sclerosis (ALS).

Autor: Manera U; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy.; SC Neurologia 1U, AOU Città della Salute e della Scienza di Torino, 10126 Turin, Italy., Torrieri MC; Academic Neurology Unit, San Luigi Gonzaga University Hospital, 10136 Orbassano, Italy., Moglia C; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy., Canosa A; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy.; SC Neurologia 1U, AOU Città della Salute e della Scienza di Torino, 10126 Turin, Italy.; Institute of Cognitive Sciences and Technologies, Consiglio Nazionale delle Ricerche C.N.R., 00185 Rome, Italy., Vasta R; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy., Palumbo F; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy., Matteoni E; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy., Cabras S; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy., Grassano M; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy., Bombaci A; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy., Mattei A; S.C. Pneumologia, S. Croce and Carle Hospital, 12100 Cuneo, Italy., Bellocchia M; S.C. Pneumologia U, AOU Città della Salute e della Scienza di Torino, 10126 Turin, Italy., Tabbia G; S.C. Pneumologia U, AOU Città della Salute e della Scienza di Torino, 10126 Turin, Italy., Ribolla F; S.C. Pneumologia U, AOU Città della Salute e della Scienza di Torino, 10126 Turin, Italy., Chiò A; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy.; SC Neurologia 1U, AOU Città della Salute e della Scienza di Torino, 10126 Turin, Italy.; Institute of Cognitive Sciences and Technologies, Consiglio Nazionale delle Ricerche C.N.R., 00185 Rome, Italy., Calvo A; Umberto Manera, ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Via Cherasco 15, 10126 Turin, Italy.; SC Neurologia 1U, AOU Città della Salute e della Scienza di Torino, 10126 Turin, Italy.

Publikováno v: Brain sciences [Brain Sci] 2024 Feb 03; Vol. 14 (2). Date of Electronic Publication: 2024 Feb 03.

Serum chloride as a respiratory failure marker in amyotrophic lateral sclerosis.

Autor: Manera U; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; SC Neurologia 1U, AOU Città della Salute e della Scienza di Torino, Turin, Italy., Grassano M; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Matteoni E; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Bombaci A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Vasta R; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Palumbo F; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Torrieri MC; Neurology Unit, Department of Clinical and Biological Sciences, San Luigi Gonzaga Hospital, University of Turin, Orbassano, Italy., Cugnasco P; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; SC Neurologia 1U, AOU Città della Salute e della Scienza di Torino, Turin, Italy., Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; SC Neurologia 1U, AOU Città della Salute e della Scienza di Torino, Turin, Italy.; Institute of Cognitive Sciences and Technologies, Rome, Italy., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; SC Neurologia 1U, AOU Città della Salute e della Scienza di Torino, Turin, Italy.; Institute of Cognitive Sciences and Technologies, Rome, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; SC Neurologia 1U, AOU Città della Salute e della Scienza di Torino, Turin, Italy.

Publikováno v: Frontiers in aging neuroscience [Front Aging Neurosci] 2023 May 24; Vol. 15, pp. 1188827. Date of Electronic Publication: 2023 May 24 (Print Publication: 2023).