Ariane Choumert

Ales, France

Last Updated: 09/26/2026

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Found 18 publications

Tofersen Treatment in SOD1-ALS: Real-World Evidence from a Retrospective Multicenter Study in France (FORSLA Study).

Tofersen Treatment in SOD1-ALS: Real-World Evidence from a Retrospective Multicenter Study in France (FORSLA Study).

Journal: Mayo Clinic proceedings. Innovations, quality & outcomes

Published: August 04, 2026

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.

Journal: European journal of neurology

Published: May 01, 2025

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.

Journal: Orphanet journal of rare diseases

Published: April 09, 2025

Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).

Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).

Journal: European journal of neurology

Published: April 03, 2025

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 27, 2024

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.

Journal: European journal of neurology

Published: May 03, 2024

Clinical presentation and natural history of RAVINE leukoencephalopathy in Reunion Island.

Clinical presentation and natural history of RAVINE leukoencephalopathy in Reunion Island.

Journal: Revue neurologique

Published: September 07, 2023

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.

Journal: Orphanet journal of rare diseases

Published: August 13, 2023

Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.

Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.

Journal: European journal of neurology

Published: January 24, 2023

SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.

Journal: European journal of neurology

Published: November 25, 2022

Current clinical management of CIDP with immunoglobulins in France: An expert opinion.

Current clinical management of CIDP with immunoglobulins in France: An expert opinion.

Journal: Revue neurologique

Published: September 13, 2022

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Journal: Journal of neuromuscular diseases

Published: March 22, 2021

Showing 1-12 of 18

Last Updated: 09/26/2026