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Anne-Sophie Lia

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 8

Top Venues

Biomedicines

Brain sciences

PLoS computational biology

Pharmaceuticals (Basel, Switzerland)

Faculty of Medicine (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

Faculty of Medicine

France

PHD

Publications

Nesrine Benslimane, Federica Miressi, Camille Loret, Laurence Richard, Angélique Nizou, Ioanna Pyromali, Pierre-Antoine Faye, Frédéric Favreau, Fabrice Lejeune, Anne-Sophie Lia
Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene. Pharmaceuticals (Basel, Switzerland) 16 (7) (2023)
Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy. Biomedicines 11 (6) (2023)
Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy. Biomedicines 11 (6) (2023)
Thibaut Benquey, Emmanuelle Pion, Mireille Cossee, Martin Krahn, Tanya Stojkovic, Aurélien Perrin, Mathieu Cerino, Annamaria Molon, Anne-Sophie Lia, Corinne Magdelaine, Bruno Francou, Anne Guiochon-Mantel, Marie-Claire Malinge, Eric Leguern, Nicolas Lévy, Shahram Attarian, Philippe Latour, Nathalie Bonello-Palot
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing. Genes 13 (2) (2022)
Laurent Magy, Pauline Chazelas, Laurence Richard, Nathalie Deschamps, Simon Frachet, Jean-Michel Vallat, Corinne Magdelaine, Frédéric Favreau, Flavien Bessaguet, Anne-Sophie Lia, Mathilde Duchesne
Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment. Biomedicines 10 (8) (2022)
Federica Miressi, Nesrine Benslimane, Frédéric Favreau, Marion Rassat, Laurence Richard, Sylvie Bourthoumieu, Cécile Laroche, Laurent Magy, Corinne Magdelaine, Franck G Sturtz, Anne-Sophie Lia, Pierre-Antoine Faye
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons. Biomedicines 9 (8) (2021)
Federica Miressi, Corinne Magdelaine, Pascal Cintas, Sylvie Bourthoumieux, Angélique Nizou, Paco Derouault, Frédéric Favreau, Franck G Sturtz, Pierre-Antoine Faye, Anne-Sophie Lia
One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form. Brain sciences 10 (12) (2020)
Paco Derouault, Jasmine Chauzeix, David Rizzo, Federica Miressi, Corinne Magdelaine, Sylvie Bourthoumieu, Karine Durand, Hélène Dzugan, Jean Feuillard, Franck Sturtz, Stéphane Mérillou, Anne-Sophie Lia
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer. PLoS computational biology 16 (2) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Anne-Sophie Lia