Emmanuelle Salort Campana

SMCHD1 is involved in<i>de novo</i>methylation of the<i>DUX4</i>-encoding D4Z4 macrosatellite

Camille Dion, Stéphane Roche, Camille Laberthonnìère et al. · Nucleic Acids Research · 2019 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Stéphane Roche, Camille Dion, Natacha Broucqsault et al. · Neurology Genetics · 2019 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Detection of proximal conduction blocks using a triple stimulation technique improves the early diagnosis of Guillain–Barré syndrome

Amandine Sévy, Aude‐Marie Grapperon, Emmanuelle Salort Campana et al. · Clinical Neurophysiology · 2017 · 22 citations

Medicine, Neurology, Neuroscience +16

Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres

Camille Laberthonnìère, Elva‐Maria Novoa‐del‐Toro, Mégane Delourme et al. · Journal of Cachexia Sarcopenia and Muscle · 2021 · 21 citations · Full text

Natural Sciences, Anatomy, Bioengineering +17

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

Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche et al. · BMC Medical Genetics · 2016 · 14 citations · Full text

Medicine, Genetics, Molecular Genetics +14