Caroline Espil

Bordeaux, France

Last Updated: 09/26/2026

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Found 18 publications

Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene.

Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene.

Journal: Mitochondrion

Published: December 01, 2025

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.

Journal: JAMA network open

Published: October 08, 2025

Prevalence of pediatric neuromuscular disorders in the Southwest region of France.

Prevalence of pediatric neuromuscular disorders in the Southwest region of France.

Journal: Neuromuscular disorders : NMD

Published: May 27, 2025

New double homozygous GDAP1 variations associated with polyneuropathy and prominent inflammatory features in unrelated individuals from Indian Ocean islands.

New double homozygous GDAP1 variations associated with polyneuropathy and prominent inflammatory features in unrelated individuals from Indian Ocean islands.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: November 12, 2024

Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France.

Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France.

Journal: Neurology. Genetics

Published: August 05, 2024

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).

Journal: Journal of neurology

Published: March 05, 2024

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

Journal: Journal of clinical immunology

Published: December 05, 2022

Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.

Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.

Journal: European journal of neurology

Published: March 09, 2022

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Journal: Genes

Published: July 09, 2021

Clinical features of spinal muscular atrophy (SMA) type 2.

Clinical features of spinal muscular atrophy (SMA) type 2.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: December 28, 2020

Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA).

Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA).

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: December 28, 2020

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.

Journal: Frontiers in pediatrics

Published: October 09, 2019

Showing 1-12 of 18

Last Updated: 09/26/2026