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Duchenne muscular dystrophy

Journal of paediatrics and child health, 2015-08, Vol.51 (8), p.759-764

2015

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Acute disseminated encephalomyelitis: Updates on an inflammatory CNS syndrome

Neurology, 2016-08, Vol.87 (9 Suppl 2), p.S38

2016

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

Multiple sclerosis, 2013-09, Vol.19 (10), p.1261-1267

2013

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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Brain (London, England : 1878), 2016-11, Vol.139 (11), p.2877-2890

2016

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Multiple cranial neuropathies in an adolescent with myelin‐oligodendrocyte glycoprotein antibody‐associated disease

Journal of paediatrics and child health, 2023-11, Vol.59 (11), p.1262-1263

2023

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Geographic Expansion of Japanese Encephalitis Virus to Australia: Neuroinflammatory Sequelae and Consideration of Immunomodulation

The Pediatric infectious disease journal, 2023-05, Vol.42 (5), p.e173

2023

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Pilot study of a virtual weight management program for Duchenne muscular dystrophy

Muscle & nerve, 2024-04, Vol.69 (4), p.459-466

2024

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

Lancet neurology, 2009-06, Vol.8 (6), p.537-544

2009

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

Neurology, 2023-01, Vol.100 (4), p.e435

2023

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Delivering multidisciplinary neuromuscular care for children via telehealth

Muscle & nerve, 2022-07, Vol.66 (1), p.31-38

2022

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

Human mutation, 2018-12, Vol.39 (12), p.1995-2007

2018

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Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial

Clinical nutrition (Edinburgh, Scotland), 2021-07, Vol.40 (7), p.4702-4711

2021

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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

Journal of paediatrics and child health, 2016-07, Vol.52 (7), p.774-776

2016

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A diagnostic approach to recurrent myalgia and rhabdomyolysis in children

Archives of Disease in Childhood, 2015-08, Vol.100 (8), p.793-797

2015

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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

Human mutation, 2010-07, Vol.31 (7), p.E1544-E1550

2010

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

Journal of child neurology, 2020-03, Vol.35 (4), p.291-296

2020

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

Developmental medicine and child neurology, 2023-01, Vol.65 (1), p.50-57

2023

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A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1599-1606

2023

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

Journal of telemedicine and telecare, 2016-12, Vol.22 (8), p.499-503

2016

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Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.61-66

2021

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Elevated Creatine Kinase in a 6-Year-Old Boy

Seminars in pediatric neurology, 2018-07, Vol.26, p.46-49

2018

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

Brain & development (Tokyo. 1979), 2020-03, Vol.42 (3), p.277-288

2020

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Duchenne muscular dystrophy

Acute disseminated encephalomyelitis: Updates on an inflammatory CNS syndrome

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

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

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

Multiple cranial neuropathies in an adolescent with myelin‐oligodendrocyte glycoprotein antibody‐associated disease

Geographic Expansion of Japanese Encephalitis Virus to Australia: Neuroinflammatory Sequelae and Consideration of Immunomodulation

Pilot study of a virtual weight management program for Duchenne muscular dystrophy

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

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

Delivering multidisciplinary neuromuscular care for children via telehealth

The severe epilepsy syndromes of infancy: A population‐based study

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

Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial

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

A diagnostic approach to recurrent myalgia and rhabdomyolysis in children

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

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

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

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

A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes

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

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Elevated Creatine Kinase in a 6-Year-Old Boy

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

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