Catherine Ashton
7PUBLICATIONS
51CO-AUTHORS
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Publications (7)
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|Jun 28, 2025
Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.Lein N H Dofash, Chiara Folland, Jason Dyke
|Apr 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.Viorica Chelban, David Pellerin, Nirosen Vijiaratnam
|Feb 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia.Shihan Chen, Catherine Ashton, Rawan Sakalla
|Oct 08, 2024
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.David Pellerin, Jean-Loup Méreaux, Susana Boluda
|Jun 27, 2024
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.David Pellerin, Giulia F Del Gobbo, Madeline Couse
|Sep 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.Catherine Ashton, Elisabetta Indelicato, David Pellerin
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Frequent Collaborators
5 joint publications
Henry Houlden
5 joint publications
Bernard Brais
4 joint publications
Matthis Synofzik
3 joint publications
Stephan Zuchner
2 joint publications
Elisabetta Indelicato
2 joint publications
Pablo Iruzubieta Agudo
2 joint publications
Matt C Danzi
2 joint publications
Marie-Josée Dicaire
2 joint publications
Ira W Deveson
2 joint publications
Céline Bonnet
