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A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Brain (London, England : 1878), 2020-09, Vol.143 (9), p.2673-2680

2020

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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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STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Genome Biology, 2022-12, Vol.23 (1), p.257-257, Article 257

2022

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Prevalence of Muscular Dystrophies: A Systematic Literature Review

Neuroepidemiology, 2014-01, Vol.43 (3-4), p.259-268

2014

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Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report

Journal of neurology, 2023-02, Vol.270 (2), p.1154-1158

2023

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Optical coherence tomography findings in Huntington’s disease: a potential biomarker of disease progression

Journal of neurology, 2015-11, Vol.262 (11), p.2457-2465

2015

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Neuronopathy and neuropathy in autosomal dominant spino-cerebellar ataxia (SCA): A preliminary peripheral nerve ultrasound study

Clinical neurophysiology, 2017-12, Vol.128 (12), p.2436-2437

2017

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Neuronal intranuclear inclusion disease in New Zealand: A novel discovery

Journal of the neurological sciences, 2024-05, Vol.460, p.122987-122987, Article 122987

2024

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Successful cerebral intravascular thrombectomy stops the heart stopping

Internal medicine journal, 2022-08, Vol.52 (8), p.1419-1422

2022

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Ophthalmic manifestations of inherited neurodegenerative disorders

Nature reviews. Neurology, 2014-06, Vol.10 (6), p.349

2014

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Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia

Movement disorders, 2013-10, Vol.28 (12), p.1691-1699

2013

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Potential PINK1 Founder Effect in Polynesia Causing Early‐Onset Parkinson's Disease

Movement disorders, 2021-09, Vol.36 (9), p.2199-2200

2021

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Corneal nerve microstructure in Parkinson’s disease

Journal of clinical neuroscience, 2017-05, Vol.39, p.53-58

2017

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Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome

Brain (London, England : 1878), 2014-10, Vol.137 (Pt 10), p.2649-2656

2014

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Globus pallidus degeneration and clinicopathological features of Huntington disease

Annals of neurology, 2016-08, Vol.80 (2), p.185-201

2016

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Cortical interneuron loss and symptom heterogeneity in Huntington disease

Annals of neurology, 2014-05, Vol.75 (5), p.717-727

2014

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The effect of hydrotherapy treatment on gait characteristics of hereditary spastic paraparesis patients

Gait & posture, 2014-04, Vol.39 (4), p.1074-1079

2014

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Ophthalmic findings in myotonic dystrophy type 2: a case series

Journal of neurology, 2016-12, Vol.263 (12), p.2552-2554

2016

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Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

BMJ open, 2019-06, Vol.9 (6), p.e029240-e029240

2019

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Thrombo-embolic cerebral infarction secondary to giant Lambl’s excrescence

Journal of clinical neuroscience, 2013-11, Vol.20 (11), p.1632-1634

2013

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Establishment and 12-month progress of the New Zealand Motor Neurone Disease Registry

Journal of clinical neuroscience, 2019-02, Vol.60, p.7-11

2019

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Optical coherence tomography findings in a patient with type 1 sialidosis

Journal of clinical neuroscience, 2016-09, Vol.31, p.199-201

2016

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Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Orphanet journal of rare diseases, 2018-09, Vol.13 (1), p.155-155, Article 155

2018

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Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1

Journal of neurology, 2014-01, Vol.261 (1), p.37-44

2014

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The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

Journal of neurology, 2013-05, Vol.260 (5), p.1286-1294

2013

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A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

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

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Prevalence of Muscular Dystrophies: A Systematic Literature Review

Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report

Optical coherence tomography findings in Huntington’s disease: a potential biomarker of disease progression

Neuronopathy and neuropathy in autosomal dominant spino-cerebellar ataxia (SCA): A preliminary peripheral nerve ultrasound study

Neuronal intranuclear inclusion disease in New Zealand: A novel discovery

Successful cerebral intravascular thrombectomy stops the heart stopping

Ophthalmic manifestations of inherited neurodegenerative disorders

Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia

Potential PINK1 Founder Effect in Polynesia Causing Early‐Onset Parkinson's Disease

Corneal nerve microstructure in Parkinson’s disease

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome

Globus pallidus degeneration and clinicopathological features of Huntington disease

Cortical interneuron loss and symptom heterogeneity in Huntington disease

The effect of hydrotherapy treatment on gait characteristics of hereditary spastic paraparesis patients

Ophthalmic findings in myotonic dystrophy type 2: a case series

Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

Thrombo-embolic cerebral infarction secondary to giant Lambl’s excrescence

Establishment and 12-month progress of the New Zealand Motor Neurone Disease Registry

Optical coherence tomography findings in a patient with type 1 sialidosis

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

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