Annachiara De Sandre‐Giovannoli

Lamin A Truncation in Hutchinson-Gilford Progeria

Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Pierre Cau et al. · Science · 2003 · 1.5K citations

Life Sciences, Anatomy, Pteridology +4

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

Annachiara De Sandre‐Giovannoli, Malika Chaouch, Serguei Kozlov et al. · The American Journal of Human Genetics · 2002 · 551 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

Fernando G. Osorio, Claire Navarro, Juan Cadiñanos et al. · Science Translational Medicine · 2011 · 421 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

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