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Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort study 澳大利亚杜氏肌营养不良症患者的生存情况：一项为期50年的回顾性队列研究 Davidson, Zoe E.; Vidmar, Suzanna; Griffiths, Amanda; Howard, Mark E.; Berlowitz, David J.; Jones, Elizabeth F.; Scully, Tim; Treanor, Darran; Singh, Bikram; Prior, David; Frost, Matilde G.; Forbes, Robin; Billich, Natassja; Adams, Justine; Carroll, Kate; Al Lawati, Tuqa; Bourne, Hannah; Kornberg, Andrew J.; Ryan, Monique M.; Woodcock, Ian R.; Yiu, Eppie M.; Cheung, Michael M. H. 分享 收藏
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 分享 收藏
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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone 基因组和RNA测序仅通过外显子组测序就可以促进神经肌肉诊断从34% 中62% 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. 分享 收藏
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant A Case Report Folland, Chiara; Ganesh, Vijay; Weisburd, Ben; McLean, Catriona; Kornberg, Andrew J.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Stevanovski, Igor; Chintalaphani, Sanjog R.; Kennedy, Paul; Deveson, Ira W.; Ravenscroft, Gianina 分享 收藏
Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome Howell, Katherine B.; Butcher, Sophie; Schneider, Amy L.; Russ-Hall, Sophie; Muzariri, Pearl R.; Kerr, Rachel; Overmars, Isabella; Hayman, Michael; Kornberg, Andrew J.; Danchin, Margie; Crawford, Nigel W.; Scheffer, Ingrid E. 分享 收藏
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans Van Bergen, Nicole J.; Bell, Katrina M.; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K.; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J.; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Flagship, Mcri Rare Diseases; Wickramasinghe, Vihandha O.; White, Susan M.; Christodoulou, John 分享 收藏
Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial 多组分营养补充剂对杜氏肌营养不良症功能结局的影响: 一项随机对照试验 Davidson, Zoe E.; Hughes, Ian; Ryan, Monique M.; Kornberg, Andrew J.; Cairns, Anita G.; Jones, Kristi; Hutchence, Meghan; Sampaio, Hugo; Morrison, Margot; Truby, Helen 分享 收藏
The severe epilepsy syndromes of infancy: A population-based study Howell, Katherine B.; Freeman, Jeremy L.; Mackay, Mark T.; Fahey, Michael C.; Archer, John; Berkovic, Samuel F.; Chan, Eunice; Dabscheck, Gabriel; Eggers, Stefanie; Hayman, Michael; Holberton, James; Hunt, Rodney W.; Jacobs, Susan E.; Kornberg, Andrew J.; Leventer, Richard J.; Mandelstam, Simone; McMahon, Jacinta M.; Mefford, Heather C.; Panetta, Julie; Riseley, Jessica; Rodriguez-Casero, Victoria; Ryan, Monique M.; Schneider, Amy L.; Smith, Lindsay J.; Stark, Zornitza; Wong, Flora; Yiu, Eppie M.; Scheffer, Ingrid E.; Harvey, A. Simon 分享 收藏
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy Bryen, Samantha J.; Oates, Emily C.; Evesson, Frances J.; Lu, Jessica K.; Waddell, Leigh B.; Joshi, Himanshu; Ryan, Monique M.; Cummings, Beryl B.; McLean, Catriona A.; MacArthur, Daniel G.; Kornberg, Andrew J.; Cooper, Sandra T. 分享 收藏
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy Cabrera-Serrano, Macarena; Coote, David Joseph; Azmanov, Dimitar; Goullee, Hayley; Andersen, Erik; McLean, Catriona; Davis, Mark; Ishimura, Ryosuke; Stark, Zornitza; Vallat, Jean-Michel; Komatsu, Masaaki; Kornberg, Andrew; Ryan, Monique; Laing, Nigel G.; Ravenscroft, Gina 分享 收藏
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REAL WORLD EVIDENCE (RWE) ON IMPACT OF AGE ON LONG-TERM PERSISTENCE TO DISEASE MODIFYING THERAPIES (DMTS) IN RELAPSING-REMITTING MULTIPLE SCLEROSIS (RRMS) IN AUSTRALIA Schulz, M.; Arora, B.; Spelman, T.; Walker, R.; Verhaeghe, S.; Chung, E.; Juneja, P.; Butzkueven, H.; Kornberg, A.; Van der Walt, A. 分享 收藏
Insights into the genotype-phenotype correlation and molecular function of SLC25A46 Abrams, Alexander J.; Fontanesi, Flavia; Tan, Natalie B. L.; Buglo, Elena; Campeanu, Ion J.; Rebelo, Adriana P.; Kornberg, Andrew J.; Phelan, Dean G.; Stark, Zornitza; Zuchner, Stephan 分享 收藏
Incidence and prevalence of NMOSD in Australia and New Zealand Bukhari, Wajih; Prain, Kerri M.; Waters, Patrick; Woodhall, Mark; O'Gorman, Cullen M.; Clarke, Laura; Silvestrini, Roger A.; Bundell, Christine S.; Abernethy, David; Bhuta, Sandeep; Blum, Stefan; Boggild, Mike; Boundy, Karyn; Brew, Bruce J.; Brown, Matthew; Brownlee, Wallace J.; Butzkueven, Helmut; Carroll, William M.; Chen, Celia; Coulthard, Alan; Dale, Russell C.; Das, Chandi; Dear, Keith; Fabis-Pedrini, Marzena J.; Fulcher, David; Gillis, David; Hawke, Simon; Heard, Robert; Henderson, Andrew P. D.; Heshmat, Saman; Hodgkinson, Suzanne; Jimenez-Sanchez, Sofia; Killpatrick, Trevor; King, John; Kneebone, Christopher; Kornberg, Andrew J.; Lechner-Scott, Jeannette; Lin, Ming-Wei; Lynch, Christpher; Macdonell, Richard; Mason, Deborah F.; McCombe, Pamela A.; Pender, Michael P.; Pereira, Jennifer A.; Pollard, John D.; Reddel, Stephen W.; Shaw, Cameron; Spies, Judith; Stankovich, James; Sutton, Ian; Vucic, Steve; Walsh, Michael; Wong, Richard C.; Yiu, Eppie M.; Barnett, Michael H.; Kermode, Allan G.; Marriott, Mark P.; Parratt, John D. E.; Slee, Mark; Taylor, Bruce V.; Willoughby, Ernest; Wilson, Robert J.; Vincent, Angela; Broadley, Simon A. 分享 收藏
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International Pediatric MS Study Group Global Members Symposium report Wassmer, Evangeline; Chitnis, Tanuja; Pohl, Daniela; Amato, Maria Pia; Banwell, Brenda; Ghezzi, Angelo; Hintzen, Rogier Q.; Krupp, Lauren B.; Makhani, Naila; Rostasy, Kevin; Tardieu, Marc; Tenembaum, Silvia; Waldman, Amy; Waubant, Emmanuelle; Kornberg, Andrew J. 分享 收藏
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