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A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study Balaji, Lakshmi; Forbes, Robin; Cairns, Anita; Sampaio, Hugo; Kornberg, Andrew J.; Sanders, Lauren; Lamont, Phillipa; Liang, Christina; Jones, Kristi J.; Nowak, Kristen; O'Gorman, Cullen; Woodcock, Ian; Briggs, Nancy; Yiu, Eppie M.; Farrar, Michelle A.; Kariyawasam, Didu Share Save
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Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement Johari, Mridul; Topf, Ana; Folland, Chiara; Duff, Jennifer; Dofash, Lein; Marti, Pilar; Robertson, Thomas; Vilchez, Juan; Cairns, Anita; Harris, Elizabeth; Marini-Bettolo, Chiara; Hundallah, Khalid; Alhashem, Amal M.; Al-Owain, Mohammed; Maroofian, Reza; Ravenscroft, Gianina; Straub, Volker Share Save
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; MacArthur, Daniel G.; Oates, Emily C.; O'Donnell-Luria, Anne; O'Grady, Gina L.; Osei-Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.; Roxburgh, Richard H.; Ryan, Monique M.; Sandaradura, Sarah A.; Scott, Liam W.; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J.; Waddell, Leigh B.; Cooper, Sandra T. Share Save
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker Share Save
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy D'Silva, Arlene M.; Holland, Sandra; Kariyawasam, Didu; Herbert, Karen; Barclay, Peter; Cairns, Anita; MacLennan, Suzanna C.; Ryan, Monique M.; Sampaio, Hugo; Smith, Nicholas; Woodcock, Ian R.; Yiu, Eppie M.; Alexander, Ian E.; Farrar, Michelle A. Share Save
Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial Davidson, Zoe E.; Hughes, Ian; Ryan, Monique M.; Kornberg, Andrew J.; Cairns, Anita G.; Jones, Kristi; Hutchence, Meghan; Sampaio, Hugo; Morrison, Margot; Truby, Helen Share Save
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Stamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E. Share Save
Transcriptome analysis of a ring chromosome 20 patient cohort Myers, Kenneth A.; Bennett, Mark F.; Hildebrand, Michael S.; Coleman, Matthew J.; Zhou, Geyu; Hollingsworth, Georgie; Cairns, Anita; Riney, Kate; Berkovic, Samuel F.; Bahlo, Melanie; Scheffer, Ingrid E. Share Save
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Early outcomes following neoadjuvant therapy for borderline resectable pancreatic cancer Goody, R.; Arunsingh, M.; Murray, L.; Adair, R.; Albazaz, R.; Anthoney, A.; Beckett, C.; Cairns, A.; Collinson, F.; Guthrie, A.; Kenyon, A.; Macutkiewicz, C.; Sanni, L.; Sheridan, M.; Smith, A.; Trainor, P.; Radhakrishna, G. Share Save
Nusinersen for SMA: expanded access programme Farrar, Michelle A.; Teoh, Hooi Ling; Carey, Kate A.; Cairns, Anita; Forbes, Robin; Herbert, Karen; Holland, Sandra; Jones, Kristi J.; Menezes, Manoj P.; Morrison, Margot; Munro, Kate; Villano, Daniella; Webster, Richard; Woodcock, Ian R.; Yiu, Eppie M.; Sampaio, Hugo; Ryan, Monique M. Share Save
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy Bagnall, Richard D.; Crompton, Douglas E.; Petrovski, Slave; Lam, Lien; Cutmore, Carina; Garry, Sarah I.; Sadleir, Lynette G.; Dibbens, Leanne M.; Cairns, Anita; Kivity, Sara; Afawi, Zaid; Regan, Brigid M.; Duflou, Johan; Berkovic, Samuel F.; Scheffer, Ingrid E.; Semsarian, Christopher Share Save
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth Todd, Emily J.; Yau, Kyle S.; Ong, Royston; Slee, Jennie; McGillivray, George; Barnett, Christopher P.; Haliloglu, Goknur; Talim, Beril; Akcoren, Zuhal; Kariminejad, Ariana; Cairns, Anita; Clarke, Nigel F.; Freckmann, Mary-Louise; Romero, Norma B.; Williams, Denise; Sewry, Caroline A.; Colley, Alison; Ryan, Monique M.; Kiraly-Borri, Cathy; Sivadorai, Padma; Allcock, Richard J. N.; Beeson, David; Maxwell, Susan; Davis, Mark R.; Laing, Nigel G.; Ravenscroft, Gianina Share Save
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