Andrew Kornberg

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 ..

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..

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..

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 ..

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

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

H Butzkueven, T Spelman, A Kornberg, M Schulz, B Arora, E Chung, P Juneja, R Walker, S Verhaeghe, A Van der Walt

Conference Proceedings  |  2019  |  MULTIPLE SCLEROSIS JOURNAL

Insights into the genotype-phenotype correlation and molecular function of SLC25A46

Alexander J Abrams, Flavia Fontanesi, Natalie BL Tan, Elena Buglo, Ion J Campeanu, Adriana P Rebelo, Andrew J Kornberg, Dean G Phelan, Zornitza Stark, Stephan Zuchner

Journal article  |  2018  |  Human Mutation

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

M Schulz, B Arora, T Spelman, R Walker, S Verhaeghe, E Chung, P Juneja, H Butzkueven, A Kornberg, A Van der Walt

Conference Proceedings  |  2018  |  Value in Health

Elevated Creatine Kinase in a 6-Year-Old Boy

Eunice K Chan, Andrew J Kornberg

Journal article  |  2018  |  Seminars in Pediatric Neurology

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study.

Craig M McDonald, Erik K Henricson, Richard T Abresch, Tina Duong, Nanette C Joyce, Fengming Hu, Paula R Clemens, Eric P Hoffman, Avital Cnaan, Heather Gordish-Dressman, undefined CINRG Investigators

Journal article  |  2018  |  The Lancet

BACKGROUND: Glucocorticoid treatment is recommended as a standard of care in Duchenne muscular dystrophy; however, few studies hav..

Evaluation of Serial Casting for Boys with Duchenne Muscular Dystrophy: A Case Report

Kate Carroll, Katy de Valle, Andrew Kornberg, Monique Ryan, Rachel Kennedy

Journal article  |  2018  |  Physical & Occupational Therapy In Pediatrics

Incidence and prevalence of NMOSD in Australia and New Zealand

Wajih Bukhari, Kerri M Prain, Patrick Waters, Mark Woodhall, Cullen M O'Gorman, Laura Clarke, Roger A Silvestrini, Christine S Bundell, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J Brew, Matthew Brown, Wallace J Brownlee, Helmut Butzkueven, William M Carroll, Celia Chen, Alan Coulthard, et al.

Journal article  |  2017  |  Journal of Neurology, Neurosurgery & Psychiatry

Acute flaccid myelitis in childhood: a retrospective cohort study

EW Andersen, AJ Kornberg, JL Freeman, RJ Leventer, MM Ryan

Journal article  |  2017  |  European Journal of Neurology

Integrating telehealth in to 'business as usual': Is it really possible?

Susan C Jury, Andrew J Kornberg

Journal article  |  2016  |  Journal of Telemedicine and Telecare

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik-Schoeneborn, Kate Pope, Katherine B Howell, Catriona A McLean, Andrew J Kornberg, Joerg Joseph, Paul J Lockhart, Klaus Zerres, Monique M Ryan, Stanley F Nelson, Carla M Koehler, Joanna C Jen

Journal article  |  2016  |  Brain

International Pediatric MS Study Group Global Members Symposium report

Evangeline Wassmer, Tanuja Chitnis, Daniela Pohl, Maria Pia Amato, Brenda Banwell, Angelo Ghezzi, Rogier Q Hintzen, Lauren B Krupp, Naila Makhani, Kevin Rostasy, Marc Tardieu, Silvia Tenembaum, Amy Waldman, Emmanuelle Waubant, Andrew J Kornberg

Journal article  |  2016  |  Neurology

Acute disseminated encephalomyelitis Updates on an inflammatory CNS syndrome

Daniela Pohl, Gulay Alper, Keith Van Haren, Andrew J Kornberg, Claudia F Lucchinetti, Silvia Tenembaum, Anita L Belman

Journal article  |  2016  |  Neurology

Altered conscious state as a presentation of the syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL syndrome) in a paediatric patient

Raffaela Armiento, Andrew J Kornberg

Journal article  |  2016  |  Journal of Paediatrics and Child Health

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Martin Kircher, Jose E Abdenur, Fusun Alehan, Alina T Midro, Michael J Bamshad, Rita Barone, Gerard T Berry, Jane E Brumbaugh, Kati J Buckingham, Katie Clarkson, F Sessions Cole, Shawn O'Connor, Gregory M Cooper, Rudy Van Coster, Laurie A Demmer, et al.

Journal article  |  2016  |  Human Mutation

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Siaw H Wong, Belinda J McClaren, Alison Dalton Archibald, Alice Weeks, Tess Langmaid, Monique M Ryan, Andrew Kornberg, Sylvia A Metcalfe

Journal article  |  2015  |  European Journal of Human Genetics

Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study

Luca Bello, Heather Gordish-Dressman, Lauren P Morgenroth, Erik K Henricson, Tina Duong, Eric P Hoffman, Avital Cnaan, Craig M McDonald

Journal article  |  2015  |  Neurology

Duchenne muscular dystrophy

Eppie M Yiu, Andrew J Kornberg

Journal article  |  2015  |  Journal of Paediatrics and Child Health

A diagnostic approach to recurrent myalgia and rhabdomyolysis in children

Eunice K Chan, Andrew J Kornberg, Monique M Ryan

Journal article  |  2015  |  Archives of Disease in Childhood

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

Luca Bello, Akanchha Kesari, Heather Gordish-Dressman, Avital Cnaan, Lauren P Morgenroth, Jaya Punetha, Tina Duong, Erik K Henricson, Elena Pegoraro, Craig M McDonald, Eric P Hoffman

Journal article  |  2015  |  Annals of Neurology

Strong Correlation Between the 6-Minute Walk Test and Accelerometry Functional Outcomes in Boys With Duchenne Muscular Dystrophy

Zoe E Davidson, Monique M Ryan, Andrew J Kornberg, Karen Z Walker, Helen Truby

Journal article  |  2015  |  Journal of Child Neurology

MANAGEMENT OF SEVERE FAECAL IMPACTION IN AN ADOLESCENT WITH DUCHENNE MUSCULAR DYSTROPHY (DMD) RECEIVING PALLIATIVE CARE

Julie Jordan-Ely, Kyla M Dobson, Shaun Appaduray, Jenny Hynson, Andrew J Kornberg, John M Hutson, Bridget R Southwell

Journal article  |  2015  |  Journal of Paediatrics and Child Health

A severe neurological complication of influenza in a previously well child.

Philippa McSwiney, Jessica Purnama, Andrew Kornberg, Margie Danchin

Journal article  |  2014  |  Case Reports

We describe a case of a 3-year-old girl who was admitted with encephalopathy and a right-sided hemiparesis secondary to acute infl..

Data review of an ongoing telehealth programme in a tertiary paediatric hospital

Susan C Jury, Andrew J Kornberg

Journal article  |  2014  |  Journal of Telemedicine and Telecare

Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study

ZE Davidson, MM Ryan, AJ Kornberg, K Sinclair, A Cairns, KZ Walker, H Truby

Journal article  |  2014  |  European Journal of Clinical Nutrition

Utility and safety of rituximab in pediatric autoimmune and inflammatory CNS disease

Russell C Dale, Fabienne Brilot, Lisa V Duffy, Marinka Twilt, Amy T Waldman, Sona Narula, Eyal Muscal, Kumaran Deiva, Erik Andersen, Michael R Eyre, Despina Eleftheriou, Paul A Brogan, Rachel Kneen, Gulay Alper, Banu Anlar, Evangeline Wassmer, Kirsten Heineman, Cheryl Hemingway, Catherine J Riney, Andrew Kornberg, et al.

Journal article  |  2014  |  Neurology

Multiple sclerosis and cancer: When two wrongs make a right?

Ben Deery, Vicki A Anderson, Mardee Greenham, Andrew J Kornberg

Journal article  |  2014  |  Developmental Neurorehabilitation

Characterization of Core Clinical Phenotypes Associated With Recurrent Proximal 15q25.2 Microdeletions

Trent Burgess, Natasha J Brown, Zornitza Stark, Damien L Bruno, Ralph Oertel, Belinda Chong, Vanessa Calabro, Andrew Kornberg, Christine Sanderson, Julian Kelly, Katherine B Howell, Ravi Savarirayan, Rupert Hinds, Anthea Greenway, Howard R Slater, Susan M White

Journal article  |  2014  |  American Journal of Medical Genetics. Part A

Childhood Chronic Inflammatory Demyelinating Polyneuropathy: An Overview of 10 Cases in the Modern Era

Tyson L Ware, Andrew J Kornberg, M Victoria Rodriguez-Casero, Monique M Ryan

Journal article  |  2014  |  Journal of Child Neurology

Clinical features and disease course of patients with juvenile dermatomyositis

Peter J Gowdie, Roger C Allen, Andrew J Kornberg, Jonathan D Akikusa

Journal article  |  2013  |  International Journal of Rheumatic Diseases

5q31.3 Microdeletion Syndrome: Clinical and Molecular Characterization of Two Further Cases

Natasha Brown, Trent Burgess, Robin Forbes, George McGillivray, Andrew Kornberg, Simone Mandelstam, Zornitza Stark

Journal article  |  2013  |  American Journal of Medical Genetics. Part A

The introduction of web-based video-consultation in a paediatric acute care setting

Susan C Jury, Amanda M Walker, Andrew J Kornberg

Journal article  |  2013  |  Journal of Telemedicine and Telecare

High resolution chromosomal microarray in undiagnosed neurological disorders

Katherine B Howell, Andrew J Kornberg, A Simon Harvey, Monique M Ryan, Mark T Mackay, Jeremy L Freeman, M Victoria Rodriguez Casero, Kevin J Collins, Michael Hayman, Ahmad Mohamed, Tyson L Ware, Damian Clark, Damien L Bruno, Trent Burgess, Howard Slater, George McGillivray, Richard J Leventer

Journal article  |  2013  |  Journal of Paediatrics and Child Health

International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions

Lauren B Krupp, Marc Tardieu, Maria Pia Amato, Brenda Banwell, Tanuja Chitnis, Russell C Dale, Angelo Ghezzi, Rogier Hintzen, Andrew Kornberg, Daniela Pohl, Kevin Rostasy, Silvia Tenembaum, Evangeline Wassmer

Journal article  |  2013  |  Multiple Sclerosis

International Pediatric MS Study Group Clinical Trials Summit Meeting report

Tanuja Chitnis, Marc Tardieu, Maria Pia Amato, Brenda Banwell, Amit Bar-Or, Angelo Ghezzi, Andrew Kornberg, Lauren B Krupp, Daniela Pohl, Kevin Rostasy, Silvia Tenembaum, Emmanuelle Waubant, Evangeline Wassmer

Journal article  |  2013  |  Neurology

Mutations in TPM2 and congenital fibre type disproportion

Nigel F Clarke, Leigh B Waddell, Lilian TL Sie, Bregje WM van Bon, Catriona McLean, Damian Clark, Andrew Kornberg, Martin Lammens, Kathryn N North

Journal article  |  2012  |  Neuromuscular Disorders

Deletions in the dystrophin gene predict loss of ambulation before 10 years of age in boys with Duchenne muscular dystrophy

ZE Davidson, AJ Kornberg, MM Ryan, K Sinclair, A Cairns, KZ Walker, H Truby

Conference Proceedings  |  2012  |  Neuromuscular Disorders

Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children

Katherine B Howell, Karin Tiedemann, Gabrielle Haeusler, Mark T Mackay, Andrew J Kornberg, Jeremy L Freeman, A Simon Harvey

Journal article  |  2012  |  Epilepsia

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik-Schoeneborn, Manoj P Menezes, Ji Eun Hong, Derek W Leong, Jan Senderek, Michael S Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul-Neumann, Andrew J Kornberg, Manuel Castro-Gago, Maria-Jesus Sobrido, Masafumi Sanefuji, Perry B Shieh, Noriko Salamon, Ronald C Kim, et al.

Journal article  |  2012  |  Nature Genetics

Pentoxifylline as a rescue treatment for DMD A randomized double-blind clinical trial

DM Escolar, A Zimmerman, T Bertorini, PR Clemens, AM Connolly, L Mesa, K Gorni, A Kornberg, H Kolski, N Kuntz, Y Nevo, C Tesi-Rocha, K Nagaraju, S Rayavarapu, LP Hache, JE Mayhew, J Florence, F Hu, A Arrieta, E Henricson, et al.

Journal article  |  2012  |  Neurology

Autoimmune myasthenia gravis, immunotherapy and thymectomy in children

Tyson L Ware, Monique M Ryan, Andrew J Kornberg

Journal article  |  2012  |  Neuromuscular Disorders

Consensus statement: evaluation of new and existing therapeutics for pediatric multiple sclerosis

T Chitnis, S Tenembaum, B Banwell, L Krupp, D Pohl, K Rostasy, EA Yeh, O Bykova, E Wassmer, M Tardieu, A Kornberg, A Ghezzi

Journal article  |  2012  |  Multiple Sclerosis

Neuromuscular disorders

MM Ryan, AJ Kornberg

Book Chapter  |  2012

Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy

DM Escolar, LP Hache, PR Clemens, A Cnaan, CM McDonald, V Viswanathan, AJ Kornberg, TE Bertorini, Y Nevo, T Lotze, A Pestronk, MM Ryan, E Monasterio, JW Day, A Zimmerman, A Arrieta, E Henricson, J Mayhew, J Florence, F Hu, et al.

Journal article  |  2011  |  Neurology

Carpal Tunnel Syndrome Secondary to Ganglion Cyst in a Child

Ahmad Mohamed, Sarah Rosalie, Kim Taylor, Michelle Fink, Christopher Coombs, Monique Ryan, Andrew Kornberg

Journal article  |  2011  |  Journal of Child Neurology

Post-ictal psychosis in adolescent Niemann-Pick disease type C

Mark Walterfang, Andrew Kornberg, Sophia Adams, Michael Fietz, Dennis Velakoulis

Journal article  |  2010  |  Journal of Inherited Metabolic Disease

Neurophysiologic findings in children presenting with pes cavus

Ahmad R Mohamed, M Victoria Rodriguez-Casero, Andrew J Kornberg, Monique M Ryan, Andrew J Kornberg, Monique M Ryan

Journal article  |  2010  |  Journal of the Peripheral Nervous System

Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion

Nigel F Clarke, Leigh B Waddell, Sandra T Cooper, Margaret Perry, Robert LL Smith, Andrew J Kornberg, Francesco Muntoni, Suzanne Lillis, Volker Straub, Kate Bushby, Michela Guglieri, Mary D King, Michael A Farrell, Isabelle Marty, Joel Lunardi, Nicole Monnier, Kathryn N North

Journal article  |  2010  |  Human Mutation

Childhood Multiple Sclerosis

A Kornberg

Conference Proceedings  |  2010  |  MULTIPLE SCLEROSIS

Headache in childhood and adolescence

A Kornberg, G Chalkiadis

Journal article  |  2009

Randomised trial of ascorbic add for Charcot-Marie-Tooth disease type 1A in children

J Burns, RA Ouvrier, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, MM Ryan

Conference Proceedings  |  2009  |  Journal of the Neurological Sciences

RYR1 is a common cause of congenital fibre type disproportion with ptosis, ophthalmoplegia, scoliosis and pronounced axial muscle weakness

NF Clarke, N Monnier, RLL Smith, AJ Kornberg, MA Farrell, L Waddell, S Cooper, J Lunardi, KN North

Conference Proceedings  |  2009  |  Neuromuscular Disorders

RANDOMIZED TRIAL OF ASCORBIC ACID FOR CMT1A IN CHILDREN

J Burns, MM Ryan, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, RA Ouvrier

Conference Proceedings  |  2009  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial

Joshua Burns, Robert A Ouvrier, Eppie M Yiu, Pathma D Joseph, Andrew J Kornberg, Michael C Fahey, Monique M Ryan

Journal article  |  2009  |  The Lancet Neurology

Ocular Myasthenia Gravis and Graves Disease in a 10-year-old Child

Ildiko H Koves, Fergus J Cameron, Andrew J Kornberg

Journal article  |  2009  |  Journal of Child Neurology

Acute Transverse Myelitis and Acute Disseminated Encephalomyelitis in Childhood: Spectrum or Separate Entities?

Eppie M Yiu, Andrew J Kornberg, Monique M Ryan, Lee T Coleman, Mark T Mackay

Journal article  |  2009  |  Journal of Child Neurology

Multiple Sclerosis in Childhood: Clinical and Radiological Features

Michael B Forrester, Lee Coleman, Andrew J Kornberg

Journal article  |  2009  |  Journal of Child Neurology

Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy

Jayasri Srinivasan, Lee Coleman, Andrew J Kornberg

Journal article  |  2008  |  Journal of Paediatrics and Child Health

Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene

Eppie M Yiu, Sangeeta Ravat, Monique M Ryan, Lloyd K Shield, Lindsay J Smith, Andrew J Kornberg

Journal article  |  2008  |  Muscle & Nerve

Duchenne muscular dystrophy

Eppie M Yiu, Andrew J Kornberg

Journal article  |  2008  |  Neurology India

Dietary L-tyrosine supplementation in Nemaline myopathy

Monique M Ryan, Catherine Sy, Sian Rudge, Carolyn Ellaway, David Ketteridge, Laurence G Roddick, Susan T Iannaccone, Andrew J Kornberg, Kathryn N North

Journal article  |  2008  |  J Child Neurol

Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation

Jayasri Srinivasan, Richard J Leventer, Andrew J Kornberg, Henrik H Dahl, Monique M Ryan

Journal article  |  2008  |  Pediatric Neurology

Spine and Spinal Cord: Developmental Disorders

VS Tay, A Kornberg, M Cook

Journal article  |  2007

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Naomi L Baker, Matthias Morgelin, Rishika A Pace, Rachel A Peat, Naomi E Adams, RJ McKinlay Gardner, Lewis P Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C Hannibal, Matthew Edwards, Elizabeth M Thompson, Richard Jacobson, Ros CM Quinlivan, Salim Aftimos, Andrew J Kornberg, Kathryn N North, John F Bateman, Shireen R Lamande

Journal article  |  2007  |  Annals of Neurology

Defining diagnostic boundaries for congenital fibre type disproportion

N Clarke, R Smith, A Kornberg, L Shield, J Manson, A Beggs, K North

Conference Proceedings  |  2007  |  Neuromuscular Disorders

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar, Claire F Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A Bacino, Bruno Barroso, Peter Baxter, Willam S Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward M Blair, Nenad Blau, David T Bonthron, Tracy Briggs, Louise A Brueton, et al.

Journal article  |  2007  |  American Journal of Human Genetics

Development of a pilocytic astrocytoma in a dysembryoplastic neuroepithelial tumor - Case report

Vivek Josan, Paul Smith, Andrew Kornberg, Christian Rickert, Wirginia Maixner

Journal article  |  2007  |  Journal of Neurosurgery: Pediatrics

Carpal tunnel syndrome in children with mucopolysaccaridoses

Alex Yuen, Guy Dowling, Bruce Johnstone, Andrew Kornberg, Christopher Coombs

Journal article  |  2007  |  Journal of Child Neurology

The spectrum of SCN1A-related infantile epileptic encephalopathies

LA Harkin, JM McMahon, X Iona, L Dibbens, JT Pelekanos, SM Zuberi, LG Sadleir, E Andermann, D Gill, K Farrell, M Connolly, T Stanley, M Harbord, F Andermann, J Wang, SD Batish, JG Jones, WK Seltzer, A Gardner, G Sutherland, et al.

Journal article  |  2007  |  Brain

Retrospective analysis of patients attending a neurofibromatosis type 1 clinic

Fiona Noble, Andrew J Kornberg, James E Elder, Martin B Delatycki

Journal article  |  2007  |  Journal of Paediatrics and Child Health

Neuromuscular disorders

A KORNBERG

Book Chapter  |  2007

A clinical and pathological study of congenital fibre type disproportion

NF Clarke, V Gonzalez, AJ Kornberg, LK Shield, JI Manson, RLL Smith, AH Beggs, S Arbuckle, AJ Bourne, X Dennett, I Nonaka, P Guicheney, A Ferreiro, KN North

Conference Proceedings  |  2006  |  Neuromuscular Disorders

Dietary L-tyrosine supplementation in nemaline myopathy

Monique Ryan, Catherine Sy, Sian Rudge, Carolyn Ellaway, David Ketteridge, Laurence Roddick, Susan Iannaccone, Andrew Kornberg, Jon Silberstein, Kathryn North

Conference Proceedings  |  2006  |  NEUROMUSCULAR DISORDERS

Bickerstaff brainstem encephalitis associated with Mycoplasma pneumoniae infection

Andrew C Steer, Mike Starr, Andrew J Kornberg

Journal article  |  2006  |  Journal of Child Neurology

Therapeutic DNA delivery to skeletal muscle

Anita Quigley, Kyrn Lowes, Andrew J Kornberg, Mark J Cook, Robert Kapsa

Journal article  |  2006  |  Current Genomics

SEPN1: Associated with congenital fiber-type disproportion and insulin resistance

NF Clarke, W Kidson, S Quijano-Roy, B Estournet, A Ferreiro, P Guicheney, JI Manson, AJ Kornberg, LK Shield, KN North

Journal article  |  2006  |  Annals of Neurology

The genetic basis of congenital fibre type disproportion

NF Clarke, B Ilkovski, RLL Smith, JI Manson, AJ Kornberg, LK Shield, I Nishino, I Nonaka, NG Laing, KN North

Conference Proceedings  |  2005  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

Dietary tyrosine supplementation in nemaline myopathy

K Rose, M Ryan, C Sy, L Ketteridge, L Roddick, S Iannaccone, A Kornberg, K North

Conference Proceedings  |  2005  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

Neurogenic and myogenic remodelling capacity of muscle derived stem cells

AF Quigley, M Kita, K Lowes, P Smith, K Sweerts, AJ Kornberg, MJ Cook, RMI Kapsa

Conference Proceedings  |  2005  |  NEUROMUSCULAR DISORDERS

Skeletal muscle remodelling by murine adipose and skin-derived mesenchymal stem cells

K Lowes, M Kita, A Quigley, M Cook, A Kornberg, R Kapsa

Conference Proceedings  |  2005  |  NEUROMUSCULAR DISORDERS

Adult muscle derived stem cells contribute to myo-regenerative capacity in the mdx mouse

M Kita, K Lowes, A Quigley, AJ Kornberg, R Kapsa

Conference Proceedings  |  2005  |  JOURNAL OF GENE MEDICINE

Plasmid based gene delivery of the survival motor neuron gene

A Quigley, A Kornberg, R Kapsa

Conference Proceedings  |  2005  |  JOURNAL OF GENE MEDICINE

Adipose and skin-derived mesenchymal stem cells as potential vehicles for gene delivery

K Lowes, M Kita, A Quigley, M Cook, A Kornberg, R Kapsa

Conference Proceedings  |  2005  |  JOURNAL OF GENE MEDICINE

Subacute inflammatory demyelinating polyneuropathy in children

MV Rodriguez-Casero, LK Shield, AJ Kornberg

Journal article  |  2005  |  Neurology

Acute tinnitus and hearing loss as the initial symptom of multiple sclerosis in a child

MV Rodriguez-Casero, S Mandelstam, AJ Kornberg, RG Berkowitz

Journal article  |  2005  |  International Journal of Pediatric Otorhinolaryngology

Neuropsychological outcome after acute disseminated encephalomyelitis: Impact of age at illness onset

RK Jacobs, VA Anderson, JL Neale, LK Shield, AJ Kornberg

Journal article  |  2004  |  Pediatric Neurology

Anti-GMI antibodies: the cause of otherwise unexplained ophthalmoplegias?

L Kowal, MA Gajus, AJ Kornberg

Journal article  |  2004  |  Clinical and Experimental Ophthalmology

Clinical experience with intravenous immunoglobulin for treatment of pediatric Guillain-Barre syndrome and chronic inflammatory demyelinating polyradiculoneuropathy

AJ Kornberg

Book Chapter  |  2004

Duchenne muscular dystrophy: hopes for the sesquicentenary

E Byrne, AJ Kornberg, R Kapsa

Journal article  |  2003  |  Medical Journal of Australia

Antibody-associated polyneuropathy syndromes: Principles and treatment

AJ Kornberg, A Pestronk

Journal article  |  2003  |  Seminars in Neurology

Novel therapies for Duchenne muscular dystrophy

R Kapsa, AJ Kornberg, E Byrne

Journal article  |  2003  |  The Lancet Neurology

Short Fragment Homologous Replacement strategies for frame shift and splice junction mutations involved in neuromuscular disorders

A Quigley, M Todaro, M Kita, K Lowes, A Kornberg, R Kapsa

Conference Proceedings  |  2003  |  JOURNAL OF GENE MEDICINE

Myogenic differentiation of adipose-derived cells: A potential cell source for autologous cell transplantation in Duchenne muscular dystrophy

K Lowes, M Kita, A Quigley, A Kornberg, M Cook, P Choong, R Kapsa

Conference Proceedings  |  2003  |  JOURNAL OF GENE MEDICINE

Childhood chronic inflammatory demyelinating polyneuropathy with central nervous system demyelination resembling multiple sclerosis

MV Rodriguez-Casero, LK Shield, LT Coleman, AJ Kornberg

Journal article  |  2003  |  Neuromuscular Disorders

Neurologic conditions

AJ KORNBERG, AS HARVEY, W MAIXNER, M NASH

Book Chapter  |  2003

Targeted gene correction in the mdX mouse using short DNA fragments: towards application with bone marrow-derived cells for autologous remodeling of dystrophic muscle

RM Kapsa, AF Quigley, J Vadolas, K Steeper, PA Ioannou, E Byrne, AJ Kornberg

Journal article  |  2002  |  Gene Therapy

Neuromuscular disorders

AJ KORNBERG

Book Chapter  |  2002

Targeted gene correction at the dystrophin locus in the mdx mouse: towards an autologous cell strategy for human Duchenne muscular dystrophy

R Kapsa, A Quigley, J Vadolas, GS Lynch, K Steeper, AJ Kornberg, P Gregorevic, P Ioannou, E Byrne

Journal article  |  2001  |  NEUROMUSCULAR DISORDERS

Anti-myelin associated glycoprotein antibodies: variability in patterns of IgM binding to peripheral nerve

G Lopate, AJ Kornberg, J Yue, R Choksi, A Pestronk

Journal article  |  2001  |  Journal of the Neurological Sciences

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene

B Ilkovski, ST Cooper, K Nowak, MM Ryan, N Yang, C Schnell, HJ Durling, LG Roddick, I Wilkinson, AJ Kornberg, KJ Collins, G Wallace, P Gunning, EC Hardeman, NG Laing, KN North

Journal article  |  2001  |  American Journal of Human Genetics

Clinical and neuroradiologic features of acute disseminated encephalomyelitis in children

JL Hynson, AJ Kornberg, LT Coleman, L Shield, AS Harvey, MJ Kean

Journal article  |  2001  |  Neurology

In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement

R Kapsa, A Quigley, GS Lynch, K Steeper, AJ Kornberg, P Gregorevic, L Austin, E Byrne

Journal article  |  2001  |  Human Gene Therapy