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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Brain (London, England : 1878), 2020-10, Vol.143 (10), p.2904-2910

2020

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Uncovering the significance of expanded CD8 + large granular lymphocytes in inclusion body myositis: Insights into T cell phenotype and functional alterations, and disease severity

Frontiers in immunology, 2023-03, Vol.14, p.1153789-1153789

2023

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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Annals of clinical and translational neurology, 2020-03, Vol.7 (3), p.353-362

2020

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Isolation of Live Leukocytes from Human Inflammatory Muscles

Methods and protocols, 2021-10, Vol.4 (4), p.75

2021

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Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Journal of medical genetics, 2021-09, Vol.58 (9), p.609

2021

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Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy

Human mutation, 2022-09, Vol.43 (9), p.1216-1223

2022

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Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

Movement disorders, 2023-08, Vol.38 (8), p.1575-1577

2023

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Clinical utility gene card for: nemaline myopathy

European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.713-713

2012

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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

American journal of human genetics, 2018-03, Vol.102 (3), p.505-514

2018

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Expanding the phenotype of GMPPB mutations

Brain (London, England : 1878), 2015-04, Vol.138 (Pt 4), p.836-844

2015

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A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

Neuromuscular disorders : NMD, 2023-02, Vol.33 (2), p.161-168

2023

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Expanding the phenotypic spectrum associated with mutations of DYNC1H1

Neuromuscular disorders : NMD, 2017-07, Vol.27 (7), p.607-615

2017

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The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders

Molecular diagnosis & therapy, 2020-12, Vol.24 (6), p.641-652

2020

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Clinical utility gene card for: Nemaline myopathy - update 2015

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.4-5

2015

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Cystinosis distal myopathy, novel clinical, pathological and genetic features

Neuromuscular disorders : NMD, 2017-09, Vol.27 (9), p.873-878

2017

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Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

Brain communications, 2023, Vol.5 (5), p.fcad239-fcad239

2023

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RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

Brain communications, 2023-07, Vol.5 (4), p.fcad208-fcad208

2023

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A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome

Mitochondrion, 2015-11, Vol.25, p.113-119

2015

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Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

Annals of neurology, 2008-09, Vol.64 (3), p.294-303

2008

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Thick filament diseases

Advances in experimental medicine and biology, 2008, Vol.642, p.78

2008

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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Uncovering the significance of expanded CD8 + large granular lymphocytes in inclusion body myositis: Insights into T cell phenotype and functional alterations, and disease severity

Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Isolation of Live Leukocytes from Human Inflammatory Muscles

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy

Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

Clinical utility gene card for: nemaline myopathy

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Expanding the phenotype of GMPPB mutations

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/[beta]-Cardiac Myosin (MYH7) Distal Myopathy

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders

Clinical utility gene card for: Nemaline myopathy - update 2015

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

Thick filament diseases

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