Catherine Ashton

Victoria Square
Perth, WA 6000, Australia

Last Updated: 09/26/2026

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Found 23 publications

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients.

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients.

Journal: EBioMedicine

Published: November 03, 2025

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Journal: Journal of neurology

Published: August 05, 2025

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Journal: Frontiers in neurology

Published: May 05, 2025

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Journal: Human molecular genetics

Published: March 14, 2025

Oculomotor Findings in Spinocerebellar Ataxia 27B: A Case Series.

Oculomotor Findings in Spinocerebellar Ataxia 27B: A Case Series.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: December 09, 2024

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.

Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.

Journal: Brain : a journal of neurology

Published: November 20, 2024

Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia.

Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia.

Journal: Neurology. Genetics

Published: October 24, 2024

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.

Journal: Brain : a journal of neurology

Published: July 01, 2024

Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.

Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.

Journal: medRxiv : the preprint server for health sciences

Published: February 26, 2024

POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.

POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.

Journal: Annals of clinical and translational neurology

Published: January 06, 2024

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

Journal: EBioMedicine

Published: December 29, 2023

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Last Updated: 09/26/2026