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Author

Charlotte Mouraux

2 papers indexed here

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Review Open access Oct 2026

The role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias

Abstract The genetic and phenotypic heterogeneity of hereditary ataxias complicates the design of clinical trials since each ataxia progresses at different rates. Consequently, robust biomarkers are urgently needed to monitor therapeutic efficacy and safety of potential therapeutic interventions. Neurofilament light ch...

Charlotte Mouraux, Magda M. Santana, Liana S. Rosenthal et al. · 0 citations
Open access Sep 2026

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1).

BACKGROUND Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. OBJECTIVES We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carri...

Charlotte Mouraux, Jean-Loup Méreaux, C. Davoine et al. · 0 citations

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