Sébastien Courrier

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli et al. · Human Molecular Genetics · 2005 · 290 citations · Full text

A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

Martin Krahn, Nicolas Wein, Marc Bartoli et al. · Science Translational Medicine · 2010 · 84 citations · Full text

High prevalence of laminopathies among patients with metabolic syndrome

Anne Dutour, Patrice Roll, Bénédicte Gaborit et al. · Human Molecular Genetics · 2011 · 62 citations

Metabolic Disorder, Genetics, Pathology +18

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Claire Navarro, Vera Esteves‐Vieira, Sébastien Courrier et al. · European Journal of Human Genetics · 2013 · 59 citations · Full text

Restrictive Dermopathy, Autoimmune Disease, Mendelian Disorder +10

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells

Florian Barthélémy, Cédric M. Blouin, Nicolas Wein et al. · Journal of Neuromuscular Diseases · 2015 · 44 citations · Full text