I. Pénisson-Besnier

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

Extracranial and intracranial vertebrobasilar dissections: diagnosis and prognosis

J.M. de Bray, I. Pénisson-Besnier, Frédéric Dubas et al. · Journal of Neurology Neurosurgery & Psychiatry · 1997 · 159 citations · Full text

Medicine, Neurology, Neurosurgery +12

Early onset collagen VI myopathies: Genetic and clinical correlations

Laura Briñas, Pascale Richard, Susana Quijano‐Roy et al. · Annals of Neurology · 2010 · 134 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Peter Hackman, Sylvie Marchand, J. Sarparanta et al. · Neuromuscular Disorders · 2008 · 106 citations

Life Sciences, Genetics, Molecular Genetics +10

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Johann Böhm, Frédéric Chevessier, Catherine Koch et al. · Journal of Medical Genetics · 2014 · 94 citations · Full text

Medicine, Genetics, Pathology +17