Corinne Theze

Montpellier, France

Last Updated: 09/26/2026

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Found 16 publications

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

Journal: Journal of neuromuscular diseases

Published: July 09, 2026

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

Journal: International journal of molecular sciences

Published: October 31, 2024

Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.

Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.

Journal: Clinical immunology (Orlando, Fla.)

Published: March 14, 2024

The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.

The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.

Journal: Biomedicines

Published: December 29, 2023

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report.

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report.

Journal: European journal of human genetics : EJHG

Published: December 14, 2023

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.

Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.

Journal: International journal of molecular sciences

Published: March 15, 2023

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Published: April 20, 2022

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

Novel dominant distal titinopathy phenotype associated with copy number variation.

Novel dominant distal titinopathy phenotype associated with copy number variation.

Journal: Annals of clinical and translational neurology

Published: February 17, 2021

Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.

Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 06, 2020

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.

Journal: Neuromuscular disorders : NMD

Published: May 07, 2020

Showing 1-12 of 16

Last Updated: 09/26/2026