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European Journal of Neurology|August 14, 2023
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxiaPablo Iruzubieta, David Pellerin, Alberto Bergareche, et al.
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophyShihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Journal of Neurology|January 15, 2025
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathyPablo Iruzubieta, José Verdú-Díaz, Ana Töpf, et al.
Neurology. Genetics|February 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 AtaxiaShihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Scientific Reports|June 15, 2023
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27BCéline Bonnet, David Pellerin, Virginie Roth, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 6, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease SpectrumIlaria Quartesan, Elisa Vegezzi, Riccardo Currò, et al.
Cerebellum (London, England)|December 22, 2025
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar AtaxiaM Leonor Bustamante, Marcelo Miranda, David Pellerin, et al.
Brain : a Journal of Neurology|February 17, 2024
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like featuresPablo Iruzubieta, Alberto Damborenea, Mihaela Ioghen, et al.
Acta Neuropathologica|September 16, 2024
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosisMónica Zufiría, Oihane Pikatza-Menoio, Maddi Garciandia-Arcelus, et al.
Brain : a Journal of Neurology|April 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophyViorica Chelban, David Pellerin, Nirosen Vijiaratnam, et al.
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