Andrew Kornberg

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Macarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, Hayley Goullee, Erik Andersen, Catriona McLean, Mark Davis, Ryosuke Ishimura, Zornitza Stark, Jean-Michel Vallat, Masaaki Komatsu, Andrew Kornberg, Monique Ryan, Nigel G Laing, Gina Ravenscroft

Journal article  |  2020  |  Journal of Medical Genetics

BACKGROUND: UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological..

Relapse Patterns in NMOSD: Evidence for Earlier Occurrence of Optic Neuritis and Possible Seasonal Variation

Elham Khalilidehkordi, Laura Clarke, Simon Arnett, Wajih Bukhari, Sofia Jimenez Sanchez, Cullen O'Gorman, Jing Sun, Kerri M Prain, Mark Woodhall, Roger Silvestrini, Christine S Bundell, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J Brew, Matthew Brown, Wallace Brownlee, Helmut Butzkueven, et al.

Journal article  |  2020  |  Frontiers in Neurology

Neuromyelitis optica spectrum disorders (NMOSD) and multiple sclerosis (MS) show overlap in their clinical features. We performed ..

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

Pietro Spitali, Irina Zaharieva, Stefan Bohringer, Monika Hiller, Amina Chaouch, Andreas Roos, Chiara Scotton, Mireille Claustres, Luca Bello, Craig M McDonald, Eric P Hoffman, undefined CINRG Investigators, Zaida Koeks, H Eka Suchiman, Sebahattin Cirak, Mariacristina Scoto, Mojgan Reza, Peter AC 't Hoen, Erik H Niks, Sylvie Tuffery-Giraud, et al.

Journal article  |  2020  |  European Journal of Human Genetics

Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability ..

Is it Pompe Disease? Australian diagnostic considerations

Michel Tchan, Robert Henderson, Andrew Kornberg, Kristina Kairaitis, Maria Fuller, Mark Davis, Carolyn Ellaway, Katrina Reardon, Alastair Corbett, Merrilee Needham, Penny McKelvie

Journal article  |  2020  |  Neuromuscular Disorders

Pompe Disease is a spectrum disorder with an evolving phenotype in which diagnostic delay is common. Contributing factors include ..

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania

Fumi Takeuchi, Harumasa Nakamura, Naohiro Yonemoto, Hirofumi Komaki, Raymond L Rosales, Andrew J Kornberg, Allan H Bretag, Charungthai Dejthevaporn, Khean Jin Goh, Yuh-Jyh Jong, Dae-Seong Kim, Satish V Khadilkar, Dingguo Shen, Kum Thong Wong, Josiah Chai, Sophelia Hoi-Shan Chan, Sara Khan, Ohnmar Ohnmar, Ichizo Nishino, Shin'ichi Takeda, et al.

Journal article  |  2020  |  Brain and Development

BACKGROUND: Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. H..

The clinical profile of NMOSD in Australia and New Zealand

Wajih Bukhari, Laura Clarke, Cullen O'Gorman, Elham Khalilidehkordi, Simon Arnett, Kerri M Prain, Mark Woodhall, Roger Silvestrini, Christine S Bundell, Sudarshini Ramanathan, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J Brew, Wallace Brownlee, Helmut Butzkueven, William M Carroll, Celia Chen, et al.

Journal article  |  2020  |  Journal of Neurology

Neuromyelitis optica spectrum disorders (NMOSD) are an inflammation of the central nervous system associated with autoantibodies t..

Neuromyelitis Optica Spectrum Disorder and Anti-Aquaporin 4 Channel Immunoglobulin in an Australian Pediatric Demyelination Cohort

Ariel Dahan, Fabienne Brilot, Richard Leventer, Andrew J Kornberg, Russell C Dale, Eppie M Yiu

Journal article  |  2020  |  Journal of Child Neurology

Neuromyelitis optica spectrum disorder is uncommon in children, and often seronegative for aquaporin-4 immunoglobulin G (AQP4-IgG)..

Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination

Fiona Tea, Joseph A Lopez, Sudarshini Ramanathan, Vera Merheb, Fiona XZ Lee, Alicia Zou, Deepti Pilli, Ellis Patrick, Anneke van der Walt, Mastura Monif, Esther M Tantsis, Eppie M Yiu, Steve Vucic, Andrew PD Henderson, Anthony Fok, Clare L Fraser, Jeanette Lechner-Scott, Stephen W Reddel, Simon Broadley, Michael H Barnett, et al.

Journal article  |  2019  |  Acta Neuropathologica Communications

Anti-N-Methyl-D-Aspartate Receptor Encephalitis Presenting as Isolated Psychosis in an Adolescent Female

Sarah R Curnow, Sally Chow, Eppie M Yiu, Andrew J Kornberg

Journal article  |  2019  |  Pediatric Neurology

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

Andrew Kornberg, Tim Spelman, Mark Schulz, Birendra Arora, Eric Chung, Prabjot Juneja, Robert Walker, Anneke van der Walt, Helmut Butzkueven

Conference Proceedings  |  2019  |  Journal of Neurology Neurosurgery & Psychiatry