Emmanuelle Lacène

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

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

Takuro Arimura, A. Leclerc, Catherine Massart et al. · Human Molecular Genetics · 2004 · 322 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

Lucie Gueneau, A. Bertrand, Jean‐Philippe Jaïs et al. · The American Journal of Human Genetics · 2009 · 238 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Deletion of Murine <i>SMN</i> Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy

Carmen Cifuentes-Díaz, Tony Frugier, Francesco Danilo Tiziano et al. · The Journal of Cell Biology · 2001 · 233 citations · Full text

Medicine, Genetics, Neurology +17

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6