Flora Nolent

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling et al. · Journal of Clinical Investigation · 2014 · 200 citations · Full text

Mechanobiology, Thin Filaments, Systems Biology +15

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet et al. · The American Journal of Human Genetics · 2012 · 151 citations · Full text

Neurological Disorder, Genetic Disorder, Genetics +9

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan et al. · The American Journal of Human Genetics · 2015 · 118 citations · Full text

Gpr126 Are Responsible, Autoimmune Disease, Translational Biology +8

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Annie Laquerrière, Jérôme Maluenda, Adrien Camus et al. · Human Molecular Genetics · 2013 · 109 citations · Full text

Pns Myelination, Developmental Biology, Autoimmune Disease +14

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

Dan Mejlachowicz, Flora Nolent, Jérôme Maluenda et al. · The American Journal of Human Genetics · 2015 · 65 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +10