Filippo M. Santorelli
Fondazione Stella Maris(IT)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Metabolism and Genetic Disorders, Neurological diseases and metabolism
Most-Cited Works
- → Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms(2014)344 cited
- → Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum(2007)331 cited
- → COQ2 Nephropathy(2007)328 cited
- → Methylmalonic and propionic aciduria(2006)294 cited
- → The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome(1993)256 cited
- → Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration(2007)250 cited
- → Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene