Mireille Claustres
Montpellier, France
Last Updated: 09/26/2026
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Found 70 publications
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
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Journal: International journal of molecular sciences
Published: October 29, 2021
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.
Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
Published: July 01, 2021
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.
First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.
Journal: International journal of molecular sciences
Published: September 22, 2020
ATP8A2-related disorders as recessive cerebellar ataxia.
Journal: Journal of neurology
Published: August 30, 2019
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Journal: Frontiers in genetics
Published: June 30, 2019
miRNA repertoires of cystic fibrosis ex vivo models highlight miR-181a and miR-101 that regulate WISP1 expression.
Journal: The Journal of pathology
Published: June 25, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
Journal: Human mutation
Published: May 10, 2019
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Journal: European journal of human genetics : EJHG
Published: November 14, 2018
Last Updated: 09/26/2026