Stuart S. Mossman

Riddiford Street
Wellington, WGN 7902, New Zealand

Last Updated: 09/26/2026

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Found 19 publications

A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.

A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.

Journal: Journal of neurology

Published: August 07, 2024

Bilateral Vestibular Failure May Improve With Treatment of the Underlying Condition: A Report of 2 Cases.

Bilateral Vestibular Failure May Improve With Treatment of the Underlying Condition: A Report of 2 Cases.

Journal: The neurologist

Published: November 29, 2021

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

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

Journal: Brain : a journal of neurology

Published: December 02, 2019

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.

Journal: Epilepsia

Published: November 19, 2019

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Journal: Brain : a journal of neurology

Published: August 05, 2019

Gentamicin vestibulotoxicity with modern systemic dosing regimens: a prospective study using video-oculography.

Gentamicin vestibulotoxicity with modern systemic dosing regimens: a prospective study using video-oculography.

Journal: Acta oto-laryngologica

Published: July 18, 2019

Central mimics of benign paroxysmal positional vertigo: an illustrative case series.

Central mimics of benign paroxysmal positional vertigo: an illustrative case series.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: June 13, 2019

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Journal: American journal of human genetics

Published: February 27, 2019

A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2.

A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2.

Journal: Case reports in neurological medicine

Published: December 22, 2017

Peripheral nerve ultrasound in Friedreich ataxia.

Peripheral nerve ultrasound in Friedreich ataxia.

Journal: Muscle & nerve

Published: November 07, 2017

Misleading signs in acute vertigo.

Misleading signs in acute vertigo.

Journal: Practical neurology

Published: November 05, 2017

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study.

Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study.

Journal: European journal of neurology

Published: September 11, 2017

Showing 1-12 of 19

Last Updated: 09/26/2026