Corine Gartioux

Paris, 75013, France

Last Updated: 09/26/2026

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Found 13 publications

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Journal: Brain : a journal of neurology

Published: October 03, 2024

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

Journal: medRxiv : the preprint server for health sciences

Published: April 08, 2024

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.

Journal: Journal of neuromuscular diseases

Published: November 14, 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

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.

Journal: Journal of neuromuscular diseases

Published: December 18, 2020

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.

Journal: Clinical case reports

Published: October 02, 2020

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Journal: JCI insight

Published: September 04, 2018

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.

Journal: Journal of neuromuscular diseases

Published: November 18, 2016

Two novel COLVI long chains in zebrafish that are essential for muscle development.

Two novel COLVI long chains in zebrafish that are essential for muscle development.

Journal: Human molecular genetics

Published: June 10, 2015

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Journal: Neuromuscular disorders : NMD

Published: May 10, 2014

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: November 15, 2013

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

Journal: Iranian journal of child neurology

Published: March 03, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026