Amandine Boyer

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 368 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Polymorphic Short Tandem Repeats for Diagnosis of the Charcot-Marie-Tooth 1A Duplication

Philippe Latour, Laetitia Boutrand, Nicolas Lévy et al. · Clinical Chemistry · 2001 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 62 citations · Full text

Medicine, Dermatology, Molecular Genetics +5

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

Juliette Bacquet, Tanya Stojkovic, Amandine Boyer et al. · BMJ Open · 2018 · 62 citations · Full text

Medicine, Genetics, Molecular Genetics +17