Stephane Roche

Marseille, France

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 18 publications

Quantitative Susceptibility Mapping of the Cervical Spinal Cord at 3T and Application to Multiple Sclerosis.

Quantitative Susceptibility Mapping of the Cervical Spinal Cord at 3T and Application to Multiple Sclerosis.

Journal: NMR in biomedicine
Published: July 24, 2025

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

Journal: International journal of molecular sciences
Published: January 27, 2020

In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells.

In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells.

Journal: Nanomaterials (Basel, Switzerland)
Published: July 26, 2019

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Journal: Circulation. Genomic and precision medicine
Published: May 22, 2019

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.

Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.

Journal: Scientific reports
Published: March 13, 2019

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.

Journal: Neurology. Genetics
Published: February 07, 2019

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.

Journal: Journal of medical genetics
Published: December 17, 2018

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

Journal: Nucleic acids research
Published: September 28, 2018

Sample Pooling and Inflammation Linked to the False Selection of Biomarkers for Neurodegenerative Diseases in Top-Down Proteomics: A Pilot Study.

Sample Pooling and Inflammation Linked to the False Selection of Biomarkers for Neurodegenerative Diseases in Top-Down Proteomics: A Pilot Study.

Journal: Frontiers in molecular neuroscience
Published: July 29, 2018

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

Journal: Human mutation
Published: March 20, 2016

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.

Journal: BMC medical genetics
Published: February 09, 2016

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.

Journal: Annals of neurology
Published: October 28, 2014
Showing 1-12 of 18

Last Updated: 09/26/2026