Andrew Kornberg

Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome.

Katherine B Howell, Sophie Butcher, Amy L Schneider, Sophie Russ-Hall, Pearl R Muzariri, Rachel Kerr, Isabella Overmars, Michael Hayman, Andrew J Kornberg, Margie Danchin, Nigel W Crawford, Ingrid E Scheffer

Journal article  |  2023  |  Neurology

BACKGROUND AND OBJECTIVES: To determine the frequency and spectrum of complications of influenza infection in individuals with SCN..

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

CA Stutterd, A Vanderver, PJ Lockhart, G Helman, K Pope, E Uebergang, C Love, MB Delatycki, D Thorburn, MT Mackay, H Peters, AJ Kornberg, C Patel, V Rodriguez-Casero, M Waak, J Silberstein, A Sinclair, M Nolan, M Field, MR Davis, et al.

Journal article  |  2022  |  EUROPEAN JOURNAL OF MEDICAL GENETICS

BACKGROUND: Next generation sequencing studies have revealed an ever-increasing number of causes for genetic disorders of central ..

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

Ingrid E Scheffer, Caitlin A Bennett, Deepak Gill, Michelle G de Silva, Kirsten Boggs, Justine Marum, Naomi Baker, Elizabeth E Palmer, Katherine B Howell

Journal article  |  2022  |  DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

AIM: To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs). MET..

Delivering multidisciplinary neuromuscular care for children via telehealth

Kate Carroll, Justine Adams, Katy de Valle, Robin Forbes, Rachel A Kennedy, Andrew J Kornberg, Moya Vandeleur, Daniella Villano, Ian R Woodcock, Eppie M Yiu, Monique M Ryan, Zoe Davidson

Journal article  |  2022  |  MUSCLE & NERVE

INTRODUCTION/AIMS: In response to coronavirus disease 2019 (COVID-19) pandemic restrictions int 2020, our face-to-face (F2F) multi..

Severe complications of influenza infection in SCN1A-Dravet syndrome

Katherine Howell, Sophie Butcher, Amy Schneider, Sophie Russ-Hall, Rachel Kerr, Isabella Overmars, Michael Hayman, Andrew Kornberg, Margie Danchin, Nigel Crawford, Ingrid Scheffer

Conference Proceedings  |  2021  |  EPILEPSIA

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans

Nicole J Van Bergen, Katrina M Bell, Kirsty Carey, Russell Gear, Sean Massey, Edward K Murrell, Lyndon Gallacher, Kate Pope, Paul J Lockhart, Andrew Kornberg, Lynn Pais, Marzena Walkiewicz, Cas Simons, Mcri Rare Diseases Flagship, Vihandha O Wickramasinghe, Susan M White, John Christodoulou

Journal article  |  2021  |  HUMAN MOLECULAR GENETICS

The nuclear pore complex (NPC) is a multi-protein complex that regulates the trafficking of macromolecules between the nucleus and..

Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy.

Erik Landfeldt, Joel Iff, Erik Henricson, undefined Cooperative International Neuromuscular Research Group Investigators

Journal article  |  2021  |  Value Health

OBJECTIVES: The objective of this study was to examine the psychometric properties of the Pediatric Quality of Life Inventory 4.0 ..

MRI Patterns Distinguish AQP4 Antibody Positive Neuromyelitis Optica Spectrum Disorder From Multiple Sclerosis

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

Journal article  |  2021  |  FRONTIERS IN NEUROLOGY

Neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) are inflammatory diseases of the CNS. Overlap in the cl..

Correction: 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  |  2021  |  Gene Ther

Figure 2 in the original manuscript contained two referential panels (B and C) that had been modified from a previous publication ..

NMOSD and MS prevalence in the Indigenous populations of Australia and New Zealand

Wajih Bukhari, Elham Khalilidehkordi, Deborah F Mason, Michael H Barnett, Bruce V Taylor, Marzena Fabis-Pedrini, Allan G Kermode, Sankar Subramanian, Patrick Waters, Simon A Broadley

Journal article  |  2021  |  JOURNAL OF NEUROLOGY

BACKGROUND: We studied the prevalence of neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) in Indigenous ..