Filippo M. Santorelli

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

COQ2 Nephropathy

Francesca Diomedi‐Camassei, Silvia Di Giandomenico, Filippo M. Santorelli et al. · Journal of the American Society of Nephrology · 2007 · 332 citations

Medicine, Molecular Genetics, Nephrology +17

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

Filippo M. Santorelli, Sara Shanske, Alfons Macaya et al. · Annals of Neurology · 1993 · 257 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Éléonore Eymard-Pierre, Gaëtan Lesca, Sandra Dollet et al. · The American Journal of Human Genetics · 2002 · 223 citations · Full text

Life Sciences, Genetics, Neurology +12