Marie-christine C. Bes-Arne

Toulouse, France

Last Updated: 09/26/2026

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Found 12 publications

Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.

Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.

Journal: The Journal of molecular diagnostics : JMD

Published: February 17, 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 homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.

Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.

Journal: Annals of clinical and translational neurology

Published: May 15, 2020

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.

Journal: Molecular genetics & genomic medicine

Published: February 07, 2019

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Journal: Molecular genetics & genomic medicine

Published: January 29, 2019

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

Journal: The Journal of molecular diagnostics : JMD

Published: June 13, 2017

Chloride channel dysfunction study in myotonic dystrophy type 1 using repeated short exercise tests.

Chloride channel dysfunction study in myotonic dystrophy type 1 using repeated short exercise tests.

Journal: Muscle & nerve

Published: December 01, 2015

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

Journal: Orphanet journal of rare diseases

Published: October 14, 2014

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Journal: PloS one

Published: September 22, 2014

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Journal: European journal of human genetics : EJHG

Published: June 18, 2014

Prevalence of type 1 Brugada ECG pattern after administration of Class 1C drugs in patients with type 1 myotonic dystrophy: Myotonic dystrophy as a part of the Brugada syndrome.

Prevalence of type 1 Brugada ECG pattern after administration of Class 1C drugs in patients with type 1 myotonic dystrophy: Myotonic dystrophy as a part of the Brugada syndrome.

Journal: Heart rhythm

Published: April 25, 2014

Neurotoxic effects of medications: an update

Neurotoxic effects of medications: an update

Journal: Revue medicale de Liege

Published: July 13, 2004

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Last Updated: 09/26/2026