Accéder directement au contenu

Stephane Roche

6
Documents

Publications

jerome-robin
Image document

SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite

Camille Dion , Stéphane Roche , Camille Laberthonnière , Natacha Broucqsault , Virginie Mariot
iScience, 2022, 25 (2), pp.103757. ⟨10.1093/nar/gkz005⟩
Article dans une revue hal-02002680v1
Image document

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

Marie-Cécile Gaillard , Natacha Broucqsault , Julia Morere , Camille Laberthonnière , Camille Dion
Scientific Reports, 2019, 1, ⟨10.1038/s41598-019-46861-x⟩
Article dans une revue hal-01951503v2
Image document

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

Karine Nguyen , Natacha Broucqsault , Charlene Chaix , Stéphane Roche , Jérôme Robin-Ducellier
Journal of Medical Genetics, In press, ⟨10.1136/jmedgenet-2018-105949⟩
Article dans une revue hal-02140159v1
Image document

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

Stéphane Roche , Camille Dion , Natacha Broucqsault , Camille Laberthonnière , Marie-Cécile Gaillard
Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩
Article dans une revue hal-02406985v1
Image document

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.

Maxime Ferreboeuf , Virginie Mariot , Bettina Bessières , Alexandre Vasiljevic , Tania Attié-Bitach
Human Molecular Genetics, 2013, 23 (1), epub ahead of print. ⟨10.1093/hmg/ddt409⟩
Article dans une revue hal-00868855v1
Image document

DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

M Ferreboeuf , V. Mariot , B. Bessières , A Vasiljevic , Tania Attié-Bitach
18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.823, ⟨10.1016/j.nmd.2013.06.640⟩
Communication dans un congrès hal-01907613v1