Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Autor: Majounie, E1, Renton, Ae, Mok, K, Dopper, Eg, Waite, A, Rollinson, S, Chiò, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten JC, Abramzon, Y, Johnson, Jo, Sendtner, M, Pamphlett, R, Orrell, Rw, Mead, S, Sidle, Kc, Houlden, H, Rohrer, Jd, Morrison, Ke, Pall, H, Talbot, K, Ansorge, O, Hernandez, Dg, Arepalli, S, Sabatelli, M, Mora, G, Corbo, M, Giannini, F, Calvo, A, Englund, E, Borghero, G, Floris, Gl, Remes, Am, Laaksovirta, H, Mccluskey, L, Trojanowski, Jq, Van Deerlin VM, Schellenberg, Gd, Nalls, Ma, Drory, Ve, Lu, Cs, Yeh, Th, Ishiura, H, Takahashi, Y, Tsuji, S, Le Ber, I, Brice, A, Drepper, C, Williams, N, Kirby, J, Shaw, P, Hardy, J, Tienari, Pj, Heutink, P, Morris, Hr, Pickering-Brown, S, Traynor, Bj, Adamson, G, Bayer, Aj, Beck, J, Callister, Jb, Blake, Dj, Blumen, Sc, Collinge, J, Dunckley, T, Ealing, J, East, S, Elman, L, Gerhard, A, Guerreiro, Rj, Gwinn, K, Halliwell, N, Hamdalla, Hh, Hewitt, C, Ince, P, Jablonka, S, James, C, Kent, L, Knock, Jc, Lynch, T, Mahoney, C, Mann, D, Neal, J, Norris, D, O'Dowd, S, Richardson, A, Rossor, M, Rothstein, J, Scholz, Sw, Snowden, J, Stephan, Da, Toulson, G, Turner, Mr, Warren, Jd, Young, K, Weng, Yh, Kuo, Hc, Lai, Sc, Huang, Cl, Camuzat, A, Entraingues, L, Guillot-Noël, Verpillat, P, Blanc, F, Camu, W, Clerget-Darpoux, F, Corcia, P, Couratier, P, Didic, M, Dubois, B, Duyckaerts, C, Guedj, E, Golfier, V, Habert, Mo, Hannequin, D, Lacomblez, L, Meininger, V, Salachas, F, Levy, R, Michel, Bf, Pasquier, F, Puel, M, Thomas-Anterion, C, Sellal, F, Vercelletto, M, Moglia, C, Cammarosano, S, Canosa, A, Gallo, S, Brunetti, M, Ossola, I, Marinou, K, Papetti, L, Pisano, F, Pinter, Gl, Conte, A, Luigetti, M, Zollino, M, Lattante, S, Marangi, G, la Bella, V, Spataro, R, Colletti, T, Battistini, S, Ricci, C, Caponnetto, C, Mancardi, G, Mandich, P, Salvi, F, Bartolomei, I, Mandrioli, J, Sola, P, Lunetta, C, Penco, S, Monsurrò, Mr, Tedeschi, G, Conforti, Fl, Gambardella, A, Quattrone, A, Volanti, P, Floris, G, Cannas, A, Piras, V, Marrosu, F, Marrosu, Mg, Murru, Mr, Pugliatti, M, Parish, Ld, Sotgiu, A, Solinas, G, Ulgheri, L, Ticca, A, Simone, I, Logroscino, G.

Publikováno v: The Lancet Neurology; Vol 11
Majounie, E, Renton, A E, Mok, K, Dopper, E G P, Waite, A, Rollinson, S, Chio, A, Restagno, G, Nicolaou, N, Simon-Sanchez, J, van Swieten, J C, Abramzon, Y, Johnson, J O, Sendtner, M, Pamphlett, R, Orrell, R W, Mead, S, Sidle, K C, Houlden, H, Rohrer, J D, Morrison, K E, Pall, H, Talbot, K, Ansorge, O, Hernandez, D G, Arepalli, S, Sabatelli, M, Mora, G, Corbo, M, Giannini, F, Calvo, A, Englund, E, Borghero, G, Foris, G L, Remes, A M, Laaksovirta, H, McCluskey, L, Trojanowski, J Q, Van Deerlin, V M, Schellenberg, G D, Nalls, M A, Drory, V E, Lu, C S, Yeh, T H, Ishiura, H, Takahashi, Y, Tsuji, S, Le Ber, I, Brice, A, Drepper, C, Williams, N, Kirby, J, Shaw, P, Hardy, J, Tienari, P J, Heutink, P, Morris, H R, Pickering-Brown, S & Traynor, B J 2012, ' Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study ', Lancet Neurology, vol. 11, no. 4, pp. 323-330 . https://doi.org/10.1016/S1474-4422(12)70043-1
Lancet Neurology, 11(4), 323-330. Lancet Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2012, 11 (4), pp.323-30. ⟨10.1016/S1474-4422(12)70043-1⟩
Nature Communications, 2012, 11 (4), pp.323-30. ⟨10.1016/S1474-4422(12)70043-1⟩
Lancet Neurology; 11(4), pp 323-330 (2012)

International audience; BACKGROUND: We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal deme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8784206eb3366edf49dc1cda0e6ce09f

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Autor: Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine

Publikováno v: Neuron, 97(6), 1268. Cell Press
Neuron, 97(6), 1268
Neuron
ITALSGEN Consortium 2018, ' Genome-wide Analyses Identify KIF5A as a Novel ALS Gene ', Neuron, vol. 97, no. 6, pp. 1268-1283.e6 . https://doi.org/10.1016/j.neuron.2018.02.027
PMC
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
1283.e
Neuron, 97(6), 1268-1283.e6. Cell Press
Neuron, Elsevier, 2018, 97 (6), pp.1268--1283.e6. ⟨10.1016/j.neuron.2018.02.027⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neuron, vol 97, iss 6
Neuron (Camb. Mass.) 97 (2018): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027
info:cnr-pdr/source/autori:Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio/titolo:Genome-wide Analyses Identify KIF5A as a Novel ALS Gene/doi:10.1016%2Fj.neuron.2018.02.027/rivista:Neuron (Camb. Mass.)/anno:2018/pagina_da:1268/pagina_a:1283.e6/intervallo_pagine:1268–1283.e6/volume:97

© 2018 Elsevier Inc.
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeb7ec307960d0e43e5575923f90d005
https://dspace.library.uu.nl/handle/1874/363799

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.

Autor: Saez-Atienzar S; Neuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health (NIH), Bethesda, MD 20892, USA; Department of Neurology, Ohio State University, Columbus, OH 43210, USA. Electronic address: sara.saezatienzar@osumc.edu., Souza CDS; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK., Chia R; Neuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health (NIH), Bethesda, MD 20892, USA., Beal SN; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK., Lorenzini I; Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ 85013, USA., Huang R; Division of Pre-clinical Innovation, National Center for Advancing Translational Sciences (NCATS), NIH, Rockville, MD 20850, USA., Levy J; Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ 85013, USA., Burciu C; Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ 85013, USA., Ding J; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA., Gibbs JR; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA., Jones A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Dewan R; Neuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health (NIH), Bethesda, MD 20892, USA., Pensato V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Peverelli S; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy., Corrado L; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., van Vugt JJFA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Rheenen W; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Tunca C; Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Bayraktar E; Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Xia M; Division of Pre-clinical Innovation, National Center for Advancing Translational Sciences (NCATS), NIH, Rockville, MD 20850, USA., Iacoangeli A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; National Institute for Health Research Biomedical Research Centre and Dementia Unit, South London and Maudsley NHS Foundation Trust and King's College London, London, UK., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Tiloca C; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Verde F; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Mazzini L; Amyotrophic Lateral Sclerosis Center, Department of Neurology 'Maggiore della Carità' University Hospital, Novara, Italy., Kenna K; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Al Khleifat A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Opie-Martin S; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Raggi F; Department of Neurosciences, University of Padova, Padova, Italy., Filosto M; NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Piccinelli SC; NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Padovani A; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Gagliardi S; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy., Inghilleri M; Department of Human Neurosciences, Rare Neuromuscular Diseases Centre, Sapienza University, 00185 Rome, Italy; IRCCS Neuromed, Pozzilli, Italy., Ferlini A; Unit of Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy., Vasta R; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy., Manera U; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Grassano M; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Mandrioli J; Department of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena, Italy., Mora G; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Lunetta C; Department of Neurorehabilitation, Istituti Clinici Scientifici Maugeri IRCCS, Institute of Milan, Milan, Italy; NEMO Clinical Center Milano, Fondazione Serena Onlus, Milan, Italy., Tanel R; Operative Unit of Neurology, S. Chiara Hospital, Trento, Italy., Trojsi F; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Cardinali P; Neurology Unit, AST Fermo, Marche, Italy., Gallone S; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Brunetti M; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Galimberti D; Neurodegenerative Diseases Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy; Department of Biomedical, Surgical, and Dental Sciences, University of Milan, Milan, Italy., Serpente M; Neurodegenerative Diseases Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Fenoglio C; Neurodegenerative Diseases Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy; Department of Biomedical, Surgical, and Dental Sciences, University of Milan, Milan, Italy., Scarpini E; Neurodegenerative Diseases Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Comi GP; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy; Neurology Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Corti S; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy; Neurology Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Del Bo R; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy; Neurology Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Ceroni M; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Pinter GL; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy., Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Bella ED; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Bersano E; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy; 'L. Sacco' Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy., Curtis CJ; Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Lee SH; Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Chung R; Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Patel H; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Morrison KE; School of Medicine, Dentistry, and Biomedical Sciences, Faculty of Medicine Health and Life Sciences, Queen's University, Belfast, UK., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, and the NIHR Sheffield Biomedical Research Centre, Sheffield, UK., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, and the NIHR Sheffield Biomedical Research Centre, Sheffield, UK., Breen G; Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Dobson RJB; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London SE5 8AF, UK; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, UK; Health Data Research UK London, University College London, London, UK; Institute of Health Informatics, University College London, London, UK; NIHR Biomedical Research Centre at University College London Hospitals NHS Foundation Trust, London, UK., Dalgard CL; Department of Anatomy, Physiology, & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA., Scholz SW; Neurodegenerative Diseases Research Section, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD 21287, USA., Al-Chalabi A; 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Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy., Sattler R; Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ 85013, USA., Shaw CE; United Kingdom Dementia Research Institute, Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; Centre for Brain Research, University of Auckland, Auckland, New Zealand., Ferraiuolo L; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK., Fogh I; United Kingdom Dementia Research Institute, Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Traynor BJ; Neuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health (NIH), Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD 21287, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD 20892, USA; RNA Therapeutics Laboratory, National Center for Advancing Translational Sciences (NCATS), NIH, Rockville, MD 20850, USA. Electronic address: traynorb@mail.nih.gov.

Publikováno v: Cell genomics [Cell Genom] 2024 Nov 13; Vol. 4 (11), pp. 100679. Date of Electronic Publication: 2024 Oct 21.

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

Autor: Imbrici P; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy., Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy., Mangiatordi GF; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy., Dinardo MM; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy., Altamura C; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy., Brugnoni R; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy., Alberga D; Department of Physics 'M. Merlin', INFN and TIRES, University of Bari, Bari, Italy., Pinter GL; Neuroalgology and Headache Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy., Ricci G; Department of Clinical and Experimental Medicine, Section of Neurology, University of Pisa, Pisa, Italy., Siciliano G; Department of Clinical and Experimental Medicine, Section of Neurology, University of Pisa, Pisa, Italy., Micheli R; Unit of Child Neurology and Psychiatry, Spedali Civili, Brescia, Italy., Annicchiarico G; Regional Coordination for Rare Diseases, A. Re. S. Puglia, Bari, Italy., Lattanzi G; Department of Physics 'M. Merlin', INFN and TIRES, University of Bari, Bari, Italy., Nicolotti O; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy., Morandi L; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy., Bernasconi P; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy., Desaphy JF; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy., Mantegazza R; Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Fondazione Istituto Neurologico 'Carlo Besta', Milano, Italy., Camerino DC; Department of Pharmacy - Drug Sciences, University of Bari, Bari, Italy.

Publikováno v: The Journal of physiology [J Physiol] 2015 Sep 15; Vol. 593 (18), pp. 4181-99. Date of Electronic Publication: 2015 Jul 14.