Catherine Ashton

Statistics

Publications

Citations

344

H-Index

Active since

2022

Affiliations

National Hospital for Neurology and Neurosurgery(Current)

University College London

McGill University

Dr. John T. Macdonald Foundation

Children's Hospital of Eastern Ontario

Catherine Ashton is an author at National Hospital for Neurology and Neurosurgery specializing in life sciences, repeat expansion analysis, and neurogenetics.

Publications per year

2022–2024

Publications

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

David Pellerin, Felix Heindl, Carlo Wilke et al. · EBioMedicine · 2024 · 63 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

Riccardo Curró, Natalia Dominik, Stefano Facchini et al. · Brain · 2024 · 28 citations · Full text

Life Sciences, Biostatistics, Aging +12

Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response

David Pellerin, Felix Heindl, Carlo Wilke et al. · medRxiv · 2023 · 10 citations · Full text

Life Sciences, Molecular Genetics, Neurology +13

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