Sabrina Sacconi

myotubesin skeletal muscle are revealed in human Mechanisms underlying Andersen's syndrome

Claude Desnuelle, Bertrand Fontaine, Savine Vicart, 2011 .

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

Albert David, Jon Andoni Urtizberea, Bruno Eymard, 2019, Journal of Medical Genetics.

Dynamic transcriptomic analysis reveals suppression of PGC1/ERR drives perturbed myogenesis in facioscapulohumeral muscular dystrophy

Simone Severini, Alka Saxena, Husam, 2018 .

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

Wolfram Kress, Jan Bürmann, Joachim Weis, 2014, Orphanet Journal of Rare Diseases.