Xavier Ferrer

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Gisèle Bonne, Eugenio Mercuri, Antoine Muchir et al. · Annals of Neurology · 2000 · 491 citations

Medicine, Genetics, Molecular Genetics +14

Mutations in dynamin 2 cause dominant centronuclear myopathy

Marc Bitoun, Svetlana Maugenre, Pierre‐Yves Jeannet et al. · Nature Genetics · 2005 · 461 citations

Life Sciences, Genetics, Molecular Genetics +10

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Luca Rampoldi, Carol Dobson‐Stone, Justin P. Rubio et al. · Nature Genetics · 2001 · 356 citations

Life Sciences, Cell Biology, Molecular Biology +4

Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies

Yves Allenbach, Laurent Drouot, Aude Rigolet et al. · Medicine · 2014 · 275 citations · Full text

Life Sciences, Immunology, Pathology +17

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch et al. · Circulation · 2019 · 260 citations · Full text

Medicine, Cardiology, Internal Medicine +15