Full Text Journal Articles by
Author Andrew J Kornberg

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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, William M Carroll, Celia Chen, Alan Coulthard, Russell C Dale, Chandi Das, Marzena J Fabis-Pedrini, David Fulcher, David Gillis, Simon Hawke, Robert Heard, Andrew P D Henderson, Saman Heshmat, Suzanne Hodgkinson, Trevor J Kilpatrick, John King, Chris Kneebone, Andrew J Kornberg, Jeannette Lechner-Scott, Ming-Wei Lin, Christopher Lynch, Richard A L Macdonell, Deborah F Mason, Pamela A McCombe, Jennifer Pereira, John D Pollard, Sudarshini Ramanathan, Stephen W Reddel, Cameron Shaw, Judith Spies, James Stankovich, Ian Sutton, Steve Vucic, Michael Walsh, Richard C Wong, Eppie M Yiu, Michael H Barnett, Allan G Kermode, Mark P Marriott, John Parratt, Mark Slee, Bruce V Taylor, Ernest Willoughby, Fabienne Brilot, Angela Vincent, Patrick Waters, Simon A Broadley,

Neuromyelitis optica spectrum disorders (NMOSD) and multiple sclerosis (MS) show overlap in their clinical features. We performed an analysis of relapses with the aim of determining differences between the two conditions. Cases of NMOSD and age- and sex-matched MS controls were collected from across Australia and New Zealand. Demographic and ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:537]

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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, Alan Coulthard, Russell C Dale, Chandi Das, Keith Dear, Marzena J Fabis-Pedrini, David Fulcher, David Gillis, Simon Hawke, Robert Heard, Andrew P D Henderson, Saman Heshmat, Suzanne Hodgkinson, Sofia Jimenez-Sanchez, Trevor J Kilpatrick, John King, Chris Kneebone, Andrew J Kornberg, Jeannette Lechner-Scott, Ming-Wei Lin, Christopher Lynch, Richard A L Macdonnell, Deborah F Mason, Pamela A McCombe, Jennifer Pereira, John D Pollard, Stephen W Reddel, Cameron Shaw, Judith Spies, James Stankovich, Ian Sutton, Steve Vucic, Michael Walsh, Richard C Wong, Eppie M Yiu, Michael H Barnett, Allan G Kermode, Mark P Marriott, John Parratt, Mark Slee, Bruce V Taylor, Ernest Willoughby, Robert J Wilson, Fabienne Brilot, Angela Vincent, Patrick Waters, Simon A Broadley,

Neuromyelitis optica spectrum disorders (NMOSD) are an inflammation of the central nervous system associated with autoantibodies to aquaporin-4. We have undertaken a clinic-based survey of NMOSD in the Australia and New Zealand populations with the aim of characterising the clinical features and establishing the value of recently revised diagnostic criteria. ... Read more >>

J. Neurol. (Journal of neurology)
[2020, 267(5):1431-1443]

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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, Ikuya Nonaka,

BACKGROUND:Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. However, there have been only a few similar studies in Asia and Oceania. Here, we investigate the steroid therapy-related clinical practice for DMD among the local experts. In 2015, we conducted a DMD expert ... Read more >>

Brain Dev. (Brain & development)
[2020, 42(3):277-288]

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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,

Neuromyelitis optica spectrum disorder is uncommon in children, and often seronegative for aquaporin-4 immunoglobulin G (AQP4-IgG). We conducted a retrospective study of 67 children presenting to a single Australian center with acquired demyelinating syndromes over a 7-year period. All patients were tested for AQP4-IgG. Five children (7.5%) had neuromyelitis optica ... Read more >>

J. Child Neurol. (Journal of child neurology)
[2020, 35(4):291-296]

Cited: 1 time

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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,

Pediatr. Neurol. (Pediatric Neurology)
[2019, 97:76-77]

Cited: 0 times

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

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

Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature. We report a patient with optic atrophy, peripheral neuropathy, ataxia, but not cerebellar atrophy, who is on the mildest end of the phenotypic spectrum. By studying seven different nontruncating mutations, we found that the ... Read more >>

Hum. Mutat. (Human mutation)
[2018, 39(12):1995-2007]

Cited: 4 times

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The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.

Mathula Thangarajh, Gary L Elfring, Panayiota Trifillis, Joseph McIntosh, Stuart W Peltz, ,

OBJECTIVE:To evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD). METHODS:We investigated the relationship between normalized digit-span forward (d-sf) and digit-span backward (d-sb) scores to the location of nmDMD mutations in 169 participants ≥5 to ≤20 years who participated in ... Read more >>

Neurology (Neurology)
[2018, 91(13):e1215-e1219]

Cited: 1 time

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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, Russell C Dale, Chandi Das, Keith Dear, Marzena J Fabis-Pedrini, David Fulcher, David Gillis, Simon Hawke, Robert Heard, Andrew P D Henderson, Saman Heshmat, Suzanne Hodgkinson, Sofia Jimenez-Sanchez, Trevor Killpatrick, John King, Christopher Kneebone, Andrew J Kornberg, Jeannette Lechner-Scott, Ming-Wei Lin, Christpher Lynch, Richard Macdonell, Deborah F Mason, Pamela A McCombe, Michael P Pender, Jennifer A Pereira, John D Pollard, Stephen W Reddel, Cameron Shaw, Judith Spies, James Stankovich, Ian Sutton, Steve Vucic, Michael Walsh, Richard C Wong, Eppie M Yiu, Michael H Barnett, Allan G Kermode, Mark P Marriott, John D E Parratt, Mark Slee, Bruce V Taylor, Ernest Willoughby, Robert J Wilson, Angela Vincent, Simon A Broadley,

OBJECTIVES:We have undertaken a clinic-based survey of neuromyelitis optica spectrum disorders (NMOSDs) in Australia and New Zealand to establish incidence and prevalence across the region and in populations of differing ancestry. BACKGROUND:NMOSD is a recently defined demyelinating disease of the central nervous system (CNS). The incidence and prevalence of NMOSD ... Read more >>

J. Neurol. Neurosurg. Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2017, 88(8):632-638]

Cited: 16 times

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Elevated Creatine Kinase in a 6-Year-Old Boy.

Eunice K Chan, Andrew J Kornberg,

Paucisymptomatic or asymptomatic but persistently elevated serum creatine kinase is not an uncommon pediatric neurology referral question. The challenge is in promptly identifying etiologies with specific treatments, even if they are rare. The presenting features for a child or adolescent with juvenile-onset Pompe disease (JOPD) can be nonspecific and heterogeneous. ... Read more >>

Semin Pediatr Neurol (Seminars in pediatric neurology)
[2018, 26:46-49]

Cited: 0 times

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

Susan C Jury, Andrew J Kornberg,

The Royal Children's Hospital, Melbourne, began offering web-based telehealth video consultation in 2011, with the principle being that telehealth should be integrated into 'business as usual'. In telehealth literature, key differences between telehealth and in-person consultations can make this hard to achieve, so an audit was performed that revealed many ... Read more >>

J Telemed Telecare (Journal of telemedicine and telecare)
[2016, 22(8):499-503]

Cited: 2 times

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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 Rostásy, Marc Tardieu, Silvia Tenembaum, Amy Waldman, Emmanuelle Waubant, Andrew J Kornberg,

The International Pediatric Multiple Sclerosis Study Group held its inaugural educational program, "The World of Pediatric MS: A Global Update," in September 2014 to discuss advances and challenges in the diagnosis and management of pediatric multiple sclerosis (MS) and other neuroinflammatory CNS disorders. Highlights included a discussion on the revised ... Read more >>

Neurology (Neurology)
[2016, 87(9 Suppl 2):S110-6]

Cited: 4 times

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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

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

Disturbed mitochondrial fusion and fission have been linked to various neurodegenerative disorders. In siblings from two unrelated families who died soon after birth with a profound neurodevelopmental disorder characterized by pontocerebellar hypoplasia and apnoea, we discovered a missense mutation and an exonic deletion in the SLC25A46 gene encoding a mitochondrial ... Read more >>

Brain (Brain : a journal of neurology)
[2016, 139(11):2877-2890]

Cited: 17 times

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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,

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating CNS disorder with predilection to early childhood. ADEM is generally considered a monophasic disease. However, recurrent ADEM has been described and defined as multiphasic disseminated encephalomyelitis. ADEM often occurs postinfectiously, although a causal relationship has never been established. ADEM and multiple sclerosis ... Read more >>

Neurology (Neurology)
[2016, 87(9 Suppl 2):S38-45]

Cited: 29 times

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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,

J Paediatr Child Health (Journal of paediatrics and child health)
[2016, 52(7):774-776]

Cited: 3 times

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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, Luisa Diogo, Alexander J Fay, Can Ficicioglu, Agata Fiumara, William A Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A Harshman, Miao He, Jaak Jaeken, Philip M James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A Nickerson, Heidi L Peters, Valerie Race, Luc Régal, Jeffrey S Rush, S Lane Rutledge, Jay Shendure, Erika Souche, Susan E Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J Waechter, Raymond Y Wang, Lynne A Wolfe, Derek A Wong, Tim Wood, Amy C Yang, , Gert Matthijs, Hudson H Freeze,

Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate required for proper N-linked glycosylation. ALG1 mutations ... Read more >>

Hum. Mutat. (Human mutation)
[2016, 37(7):653-660]

Cited: 11 times

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Duchenne muscular dystrophy.

Eppie M Yiu, Andrew J Kornberg,

Duchenne muscular dystrophy, an X-linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s. The use of corticosteroids, ... Read more >>

J Paediatr Child Health (Journal of paediatrics and child health)
[2015, 51(8):759-764]

Cited: 44 times

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A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.

Eunice K Chan, Andrew J Kornberg, Monique M Ryan,

Episodic myalgia is a common complaint in children and young adults. While many cases remain idiopathic even after extensive investigation, myalgia can be the first symptom of an underlying serious neuromuscular condition, and can be associated with an increased risk of such serious complications as rhabdomyolysis and malignant hyperthermia. We ... Read more >>

Arch. Dis. Child. (Archives of disease in childhood)
[2015, 100(8):793-797]

Cited: 7 times

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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,

J Paediatr Child Health (Journal of paediatrics and child health)
[2015, 51(3):351-352]

Cited: 0 times

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

Susan C Jury, Andrew J Kornberg,

The Royal Children's Hospital (RCH) in Melbourne has been providing teleconsultations since 2011 using web-based videoconferencing. We reviewed telehealth activity over the first 30 months of the programme. The average consultation rate was 14 per month in 2012, 39 in 2013 and 49 per month in the first half of ... Read more >>

J Telemed Telecare (Journal of telemedicine and telecare)
[2014, 20(7):384-390]

Cited: 4 times

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Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Katharine Bushby, Richard Finkel, Brenda Wong, Richard Barohn, Craig Campbell, Giacomo P Comi, Anne M Connolly, John W Day, Kevin M Flanigan, Nathalie Goemans, Kristi J Jones, Eugenio Mercuri, Ros Quinlivan, James B Renfroe, Barry Russman, Monique M Ryan, Mar Tulinius, Thomas Voit, Steven A Moore, H Lee Sweeney, Richard T Abresch, Kim L Coleman, Michelle Eagle, Julaine Florence, Eduard Gappmaier, Allan M Glanzman, Erik Henricson, Jay Barth, Gary L Elfring, Allen Reha, Robert J Spiegel, Michael W O'donnell, Stuart W Peltz, Craig M Mcdonald, ,

INTRODUCTION:Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. METHODS:Randomized, double-blind, placebo-controlled study; males ≥ 5 years with nm-dystrophinopathy received study drug orally 3 times daily, ... Read more >>

Muscle Nerve (Muscle & nerve)
[2014, 50(4):477-487]

Cited: 136 times

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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,

Accelerometry provides information on habitual physical capability that may be of value in the assessment of function in Duchenne muscular dystrophy. This preliminary investigation describes the relationship between community ambulation measured by the StepWatch activity monitor and the current standard of functional assessment, the 6-minute walk test, in ambulatory boys ... Read more >>

J. Child Neurol. (Journal of child neurology)
[2015, 30(3):357-363]

Cited: 6 times

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

Susan C Jury, Amanda M Walker, Andrew J Kornberg,

The Royal Children's Hospital (RCH) in Melbourne has been providing web-based video-consultations for a range of paediatric sub-specialties since 2011. There were 346 video-consultations in the first 16 months, from a total of 65 clinicians. Most teleconsultations were with the family at home. Generally, video-consultation was used for follow-up, after ... Read more >>

J Telemed Telecare (Journal of telemedicine and telecare)
[2013, 19(7):383-387]

Cited: 8 times

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

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

INTRODUCTION: Current treatments for multiple sclerosis (MS) remain partially successful, with certain patients remaining treatment resistant. A recent treatment, known as 'immunoablation' has been used in severe cases of adult MS with promising results. However, due to its high risk and reservation for severe or refractory cases, its full potential ... Read more >>

Dev Neurorehabil (Developmental neurorehabilitation)
[2014, 17(3):147-155]

Cited: 0 times

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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,

Chronic inflammatory demyelinating polyneuropathy is a rare condition in children. In this article, we report our experience in the management of 10 cases of childhood chronic inflammatory demyelinating polyneuropathy in a single center, in the era of contrast-enhanced magnetic resonance imaging (MRI), genetic microarray, and chronic inflammatory demyelinating polyneuropathy disease ... Read more >>

J. Child Neurol. (Journal of child neurology)
[2014, 29(1):43-48]

Cited: 10 times

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Clinical features and disease course of patients with juvenile dermatomyositis.

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

OBJECTIVE: To describe the clinical features and course of a cohort of patients with juvenile dermatomyositis (JDM) at a tertiary referral pediatric centre in Australia and examine changes in diagnostic and therapeutic approach over time. METHODS: Retrospective review of patients diagnosed with JDM at the Royal Children's Hospital, Melbourne, between ... Read more >>

Int J Rheum Dis (International journal of rheumatic diseases)
[2013, 16(5):561-567]

Cited: 18 times

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