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Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study

Muscle & nerve, 2023-06, Vol.67 (6), p.489-496

2023

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A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

PloS one, 2024-01, Vol.19 (1), p.e0294847-e0294847

2024

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Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

Annals of clinical and translational neurology, 2022-03, Vol.9 (3), p.339-350

2022

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Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: A systematic review

Gait & posture, 2018-03, Vol.61, p.149-162

2018

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Genetic, Radiologic and Clinical Variability in Brown-Vialetto-Van Laere Syndrome

Seminars in pediatric neurology, 2018-07, Vol.26, p.2-9

2018

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Practical approach to the child presenting with acute generalised weakness

Journal of paediatrics and child health, 2024-02, Vol.60 (2-3), p.41-46

2024

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Pathogenic mechanisms underlying X-linked Charcot-Marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation

Neurobiology of disease, 2016-10, Vol.94, p.237-244

2016

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Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset

Journal of the peripheral nervous system, 2012-09, Vol.17 (3), p.285-300

2012

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Diagnosis and management of Guillain-Barré syndrome in ten steps

Nature reviews. Neurology, 2019-11, Vol.15 (11), p.671-683

2019

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Infantile Onset myelin protein zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia

Seminars in pediatric neurology, 2018-07, Vol.26, p.52-55

2018

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Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review

Muscle & nerve, 2024-11, Vol.70 (5), p.890-902

2024

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Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review

Neurorehabilitation and Neural Repair, 2017-07, Vol.31 (7), p.609-622

2017

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Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

JIMD reports, 2020-01, Vol.51 (1), p.11-16

2020

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Nusinersen for SMA: expanded access programme

Journal of neurology, neurosurgery and psychiatry, 2018-09, Vol.89 (9), p.937-942

2018

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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-e176

2023

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Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study

Journal of clinical medicine, 2024-04, Vol.13 (7), p.2127

2024

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Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature

Neuromuscular disorders : NMD, 2024-04, Vol.37, p.29-35

2024

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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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Translating a Clinical Practice Guideline to a Portuguese, Spanish and English Practice Brief to promote exercise therapy for paediatric Charcot-Marie-Tooth disease

Physiotherapy, 2024-12, Vol.125, p.101419, Article 101419

2024

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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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Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

Journal of neurology, neurosurgery and psychiatry, 2022-05, Vol.93 (5), p.530-538

2022

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Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

Scientific reports, 2020-06, Vol.10 (1), p.9262-9262, Article 9262

2020

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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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The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia

Cerebellum (London, England), 2022-12, Vol.21 (6), p.963-975

2022

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Fracture risk and impact in boys with Duchenne muscular dystrophy: A retrospective cohort study

A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice

Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy

Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: A systematic review

Genetic, Radiologic and Clinical Variability in Brown-Vialetto-Van Laere Syndrome

Practical approach to the child presenting with acute generalised weakness

Pathogenic mechanisms underlying X-linked Charcot-Marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation

Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset

Diagnosis and management of Guillain-Barré syndrome in ten steps

Infantile Onset myelin protein zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia

Nutrition outcomes of disease modifying therapies in spinal muscular atrophy: A systematic review

Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

Nusinersen for SMA: expanded access programme

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

Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study

Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature

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

Translating a Clinical Practice Guideline to a Portuguese, Spanish and English Practice Brief to promote exercise therapy for paediatric Charcot-Marie-Tooth disease

Delivering multidisciplinary neuromuscular care for children via telehealth

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation

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

The Responsiveness of Gait and Balance Outcomes to Disease Progression in Friedreich Ataxia

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