Anne-sophie S. Lia

Limoges, France

Last Updated: 09/26/2026

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Found 40 publications

Functional Evaluation of Splice Variants Using a Minigene Strategy.

Functional Evaluation of Splice Variants Using a Minigene Strategy.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: July 23, 2025

Efficacy of morphine on cough in patients with repeat expansions of RFC1 and refractory chronic cough.

Efficacy of morphine on cough in patients with repeat expansions of RFC1 and refractory chronic cough.

Journal: ERJ open research

Published: June 18, 2025

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

Journal: European journal of neurology

Published: April 08, 2025

TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.

TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023.

Journal: European journal of neurology

Published: December 09, 2024

Addressing myelination disorders: Novel strategies using human 3D peripheral nerve model.

Addressing myelination disorders: Novel strategies using human 3D peripheral nerve model.

Journal: Brain research bulletin

Published: August 28, 2024

Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants.

Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants.

Journal: European journal of cell biology

Published: July 28, 2024

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.

Journal: Journal of tissue engineering

Published: June 10, 2024

CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants.

CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants.

Journal: Biomedicines

Published: May 28, 2024

Early Peripheral Nerve Involvement at the Time of Coughing in Patients With RFC1 Intronic Expansion.

Early Peripheral Nerve Involvement at the Time of Coughing in Patients With RFC1 Intronic Expansion.

Journal: Neurology. Genetics

Published: March 01, 2024

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome: a neurogenic cough prototype.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome: a neurogenic cough prototype.

Journal: ERJ open research

Published: January 08, 2024

Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.

Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.

Journal: Pharmaceuticals (Basel, Switzerland)

Published: December 28, 2023

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.

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.

Journal: Pharmaceuticals (Basel, Switzerland)

Published: May 26, 2023

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Last Updated: 09/26/2026