Search Results - Anita Cairns
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Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy by Arlene D’Silva, Sandra Holland, Didu Kariyawasam, Karen Herbert, Peter Barclay, Anita Cairns, Suzanna C. MacLennan, Monique M. Ryan, Hugo Sampaio, Nicholas M. A. Smith, Ian Woodcock, Eppie M. Yiu, Ian E. Alexander, Michelle A. Farrar
Published 2022Artigo -
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Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy by Richard D. Bagnall, Douglas E. Crompton, Slavé Petrovski, Lien Lam, Carina Cutmore, Sarah Garry, Lynette G. Sadleir, Leanne M. Dibbens, Anita Cairns, Sara Kivity, Zaid Afawi, Brigid M. Regan, Johan Duflou, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher Semsarian
Published 2015Artigo -
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Nusinersen for SMA: expanded access programme by Michelle A. Farrar, Hooi Ling Teoh, Kate A. Carey, Anita Cairns, Robin Forbes, Karen Herbert, Sandra Holland, Kristi Jones, Manoj P. Menezes, Margot Morrison, Kate Munro, Daniella Villano, Richard Webster, Ian Woodcock, Eppie M. Yiu, Hugo Sampaio, Monique M. Ryan
Published 2018Artigo -
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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth by Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher Barnett, Göknur Haliloğlu, Beril Talim, Zühal Akçören, Ariana Kariminejad, Anita Cairns, Nigel F. Clarke, Mary‐Louise Freckmann, Norma B. Romero, Denise Williams, Caroline A. Sewry, Alison Colley, Monique M. Ryan, Cathy Kiraly‐Borri, Padma Sivadorai, Richard J. N. Allcock, David Beeson, Susan Maxwell, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft
Published 2015Artigo -
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Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone by Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay Ganesh, Roula Ghaoui, Kristi Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O’Donnell‐Luria, Gina O’Grady, Ikeoluwa Osei‐Owusu, Haloom Rafehi, Stephen Reddel, Richard Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
Published 2024Artigo -
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns by Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer
Published 2020Artigo -
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy by Ana Töpf, Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson, Ian M. Sealy, Andrei Smolnikov, Richard White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M. Laricchia, Cristina Venturini, Bas Vroling, Sarah L. Stenton, Beryl B. Cummings, Elizabeth Harris, Chiara Marini‐Bettolo, Jordi Díaz‐Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina England, Jane Patrick, Sundos Al-Husayni, Valérie Biancalana, Alan H. Beggs, István Bódi, Shobhana Bommireddipalli, Carsten G. Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G. Claeys, Sandra T. Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Mahmoud R. Fassad, Casie A. Genetti, Carla Grosmann, Heinz Jungbluth, Erik‐Jan Kamsteeg, Xavière Lornage, Wolfgang N. Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O’Donnell‐Luria, Narumi Ogonuki, Gina O’Grady, Emily O’Heir, Stéphanie Paquay, Rahul Phadke, Beth A. Pletcher, Norma B. Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W. Taylor, Allysa Tuite, Peter Van den Bergh, Grace E. VanNoy, Nicol C. Voermans, Julia Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C. Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J. Vílchez, Daniel G. MacArthur, Anna Sárközy, Heather J. Cordell, Bjarne Udd, Elisabeth M. Busch‐Nentwich, Francesco Muntoni, Volker Straub
Published 2024Artigo
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