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Growth and nutrition in pediatric neuromuscular disorders

Clinical nutrition (Edinburgh, Scotland), 2021-06, Vol.40 (6), p.4341-4348

2021

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Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme

Developmental medicine and child neurology, 2022-05, Vol.64 (5), p.625-632

2022

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Proteomic analysis of first trimester maternal serum to identify candidate biomarkers potentially predictive of spontaneous preterm birth

Journal of proteomics, 2018-04, Vol.178, p.31-42

2018

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Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study

The lancet child & adolescent health, 2023-03, Vol.7 (3), p.159-170

2023

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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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Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen

The Journal of physiology, 2022-01, Vol.600 (1), p.95-109

2022

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“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy

EClinicalMedicine, 2021-03, Vol.33, p.100742-100742, Article 100742

2021

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Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers

Pediatric neurology, 2023-12, Vol.149, p.75-83

2023

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2959 Clinician understanding, acceptance and utilization of ketogenic diet therapy for epilepsy in Australia and New Zealand: a cross-sectional cohort study

BMJ neurology open, 2024-08, Vol.6 (Suppl 1), p.A5-A5

2024

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Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective

Expert review of neurotherapeutics, 2023-07, Vol.23 (7), p.571-586

2023

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Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study

Pharmaceutics, 2023-01, Vol.15 (1), p.170

2023

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Differential Placental Gene Expression in Term Pregnancies Affected by Fetal Growth Restriction and Macrosomia

Fetal diagnosis and therapy, 2014-01, Vol.36 (2), p.173-180

2014

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Incidence of Duchenne muscular dystrophy in the modern era; an Australian study

European journal of human genetics : EJHG, 2022-12, Vol.30 (12), p.1398-1404

2022

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Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy

Frontiers in neurology, 2019-08, Vol.10, p.898-898

2019

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Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

Orphanet journal of rare diseases, 2020-03, Vol.15 (1), p.70-70, Article 70

2020

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First Trimester Protein Biomarkers for Risk of Spontaneous Preterm Birth: Identifying a Critical Need for More Rigorous Approaches to Biomarker Identification and Validation

Fetal diagnosis and therapy, 2020-06, Vol.47 (6), p.497-506

2020

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"Getting ready for the adult world": how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being

Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.74-74, Article 74

2019

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Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy

Molecular therapy, 2023-07, Vol.31 (7), p.1979-1993

2023

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A Routine 'Top-Down' Approach to Analysis of the Human Serum Proteome

Proteomes, 2017-06, Vol.5 (2), p.13

2017

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WE-149. Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen

Clinical neurophysiology, 2022-09, Vol.141, p.S73-S74

2022

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Ethnopharmacology of medicinal plants of carrasco, northeastern Brazil

Journal of ethnopharmacology, 2014-11, Vol.157, p.99-104

2014

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Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen

Journal of neurology, neurosurgery and psychiatry, 2021-01, Vol.92 (1), p.78-85

2021

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The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers

Genes, 2023-07, Vol.14 (7), p.1403

2023

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Personalized medicine for children with spinal muscular atrophy: Toward the holy grail

Muscle & nerve, 2020-10, Vol.62 (4), p.425-426

2020

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Clinician Understanding, Acceptance and utilization of Ketogenic diet therapy for epilepsy in Australia and New Zealand: An online survey

Epilepsy & behavior reports, 2024-01, Vol.28, p.100711, Article 100711

2024

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Growth and nutrition in pediatric neuromuscular disorders

Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme

Proteomic analysis of first trimester maternal serum to identify candidate biomarkers potentially predictive of spontaneous preterm birth

Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study

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

Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen

“We needed this”: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy

Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers

2959 Clinician understanding, acceptance and utilization of ketogenic diet therapy for epilepsy in Australia and New Zealand: a cross-sectional cohort study

Decision-making and challenges within the evolving treatment algorithm in spinal muscular atrophy: a clinical perspective

Identification of Novel CSF-Derived miRNAs in Treated Paediatric Onset Spinal Muscular Atrophy: An Exploratory Study

Differential Placental Gene Expression in Term Pregnancies Affected by Fetal Growth Restriction and Macrosomia

Incidence of Duchenne muscular dystrophy in the modern era; an Australian study

Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy

Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

First Trimester Protein Biomarkers for Risk of Spontaneous Preterm Birth: Identifying a Critical Need for More Rigorous Approaches to Biomarker Identification and Validation

"Getting ready for the adult world": how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being

Structural and functional characterization of capsid binding by anti-AAV9 monoclonal antibodies from infants after SMA gene therapy

A Routine 'Top-Down' Approach to Analysis of the Human Serum Proteome

WE-149. Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen

Ethnopharmacology of medicinal plants of carrasco, northeastern Brazil

Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen

The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers

Personalized medicine for children with spinal muscular atrophy: Toward the holy grail

Clinician Understanding, Acceptance and utilization of Ketogenic diet therapy for epilepsy in Australia and New Zealand: An online survey

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