Paola S. Denora

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Giovanni Stévanin, Filippo M. Santorelli, Hamid Azzedine et al. · Nature Genetics · 2007 · 332 citations

Medicine, Neurology, Neuroscience +8

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Giovanni Stévanin, Hamid Azzedine, Paola S. Denora et al. · Brain · 2007 · 253 citations

Life Sciences, Genetics, Neurology +17

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Sylvain Hanein, Elodie Martin, Amir Boukhris et al. · The American Journal of Human Genetics · 2008 · 213 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

SPG11 spastic paraplegia

Mathieu Anheim, Clotilde Lagier‐Tourenne, Giovanni Stévanin et al. · Journal of Neurology · 2009 · 98 citations · Full text

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

Elodie Martin, Agnès Rastetter, Typhaine Esteves et al. · Molecular and Cellular Neuroscience · 2011 · 84 citations

Medicine, Neurology, Neuroscience +9