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Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation Hoogwijs, Ine; Mandelstam, Simone A.; Mcgillivray, George; Halliday, Benjamin J.; Yiu, Eppie M.; Macdonald-Laurs, Emma; Perry, David; Patel, Rakesh; Gabbett, Michael; Patel, Chirag; Malone, Stephen; Fahey, Michael; Gill, Deepak; Field, Mike; Delatycki, Martin B.; Mohammad, Shekeeb; Berkovic, Samuel F.; Scheffer, Ingrid E.; Lockhart, Paul J.; Jackson, Graeme D.; Jansen, Anna C.; Robertson, Stephen P.; Leventer, Richard J. Share Save
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Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort study 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. Share Save
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals Woodcock, Ian R.; Kariyawasam, Didu S.; Kava, Maina P.; Yiu, Eppie M.; Clark, Damian; Adams, Jane; Bischof, Matthias; Peacock, Adrian; Taylor, Colman; Smith, Nicholas J. C. Share Save
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Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia Koenig, Mary Kay; Leuzzi, Vincenzo; Gouider, Riadh; Yiu, Eppie M.; Pietrucha, Barbara; Stray-Pedersen, Asbjorg; Perlman, Susan L.; Wu, Steve; Burgers, Trudy; Borgohain, Rupam; Kandadai, Rukmini Mridula; Meyts, Isabelle; Bucciol, Giorgia; Udwadia-Hegde, Anaita; Roberts, Donna; Dane, Aaron; Roden, Maureen; Thye, Dirk; Horn, Biljana; Lederman, Howard M.; Whitehouse, William P. Share Save
International collaboration to improve knowledge on myotonic dystrophy type 2 Peric, Stojan; Ivanovic, Vukan; Ashley, Emma-Jayne; Esparis, Belen; Campbell, Craig; Wenninger, Stephan; Monckton, Darren; Marini-Bettolo, Chiara; Walker, Helen; Vohanka, Stanislav; Cumming, Kleed; Lusakowska, Anna; Hodgkinson, Victoria; Cosyns, Marjan; Rodrigues, Miriam; Yiu, Eppie; Mazanec, Radim; Stevenson, Tanya; Kostera-Pruszczyk, Anna; Korngut, Lawrence; Jagut, Marlene; Schoser, Benedikt; Forbes, Robin; Poll, Annie; Roxburgh, Richard Share Save
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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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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
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease Yiu, Eppie M.; Bray, Paula; Baets, Jonathan; Baker, Steven K.; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A.; Finkel, Richard S.; Haberlova, Jana; Kennedy, Rachel A.; Moroni, Isabella; Nicholson, Garth A.; Ramchandren, Sindhu; Reilly, Mary M.; Rose, Kristy; Shy, Michael E.; Siskind, Carly E.; Yum, Sabrina W.; Menezes, Manoj P.; Ryan, Monique M.; Burns, Joshua Share Save
The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia Milne, Sarah C.; Kim, Seok Hun; Murphy, Anna; Larkindale, Jane; Farmer, Jennifer; Malapira, Ritchie; Danoudis, Mary; Shaw, Jessica; Ramakrishnan, Tyagi; Rasouli, Fatemeh; Yiu, Eppie M.; Georgiou-Karistianis, Nellie; Tai, Geneieve; Zesiewicz, Theresa; Delatycki, Martin B.; Corben, Louise A. Share Save
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 Share Save
Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation Perez-Siles, G.; Cutrupi, A.; Ellis, M.; Screnci, R.; Mao, D.; Uesugi, M.; Yiu, Eppie M.; Ryan, Monique M.; Choi, B. O.; Nicholson, G.; Kennerson, M. L. Share Save
Diagnosis and management of Guillain-Barre syndrome in ten steps Leonhard, Sonja E.; Mandarakas, Melissa R.; Gondim, Francisco A. A.; Bateman, Kathleen; Ferreira, Maria L. B.; Cornblath, David R.; van Doorn, Pieter A.; Dourado, Mario E.; Hughes, Richard A. C.; Islam, Badrul; Kusunoki, Susumu; Pardo, Carlos A.; Reisin, Ricardo; Sejvar, James J.; Shahrizaila, Nortina; Soares, Cristiane; Umapathi, Thirugnanam; Wang, Yuzhong; Yiu, Eppie M.; Willison, Hugh J.; Jacobs, Bart C. Share Save
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