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 · 331 citations

Biology, Neuroanatomy, Genetics +8

COQ2 Nephropathy

Francesca Diomedi‐Camassei, Silvia Di Giandomenico, Filippo M. Santorelli et al. · Journal of the American Society of Nephrology · 2007 · 326 citations

Glomerular Disease, Glomerulonephritis, Urology +13

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 · 256 citations

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 · 246 citations

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

Rare Diseases, Amyotrophic Lateral Sclerosis, Genetic Disorder +7