Filippo M. Santorelli

Author

Also Known As

A. Antenora, Adele D’Amico, Alessandro Filla, Alessandro Tonacci, Andrea Spezzaneve, C. Minetti, Claudia Nesti, Claudio Bruno, Emanuele Rastelli, F M Santorelli

854

Publications

22.2K

Citations

H-Index

286

Concepts

All Affiliations

Fondazione Stella Maris Bambino Gesù Children's Hospital Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini Sapienza University of Rome

About

Filippo M. Santorelli is an author at Fondazione Stella Maris specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Health Sciences	16	19	964
2	Engineering	6	6	139
3	Arts	3	3	102
4	Education	1	1	24
5	Language Studies	1	1	24

Filippo M. Santorelli

381

Publications

18.3K

Citations

H-Index

Page 1

	Year	Citations
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum Giovanni Stévanin, Filippo M. Santorelli, Hamid Azzedine, Nature Genetics BiologyNeuroanatomyGeneticsThin Corpus CallosumSpastic Paraplegia	2007	331
COQ2 Nephropathy Francesca Diomedi‐Camassei, Silvia Di Giandomenico, Filippo M. Santorelli, Journal of the American Society of Nephrology Glomerular DiseaseGlomerulonephritisUrologyRenal DiseaseRenal Function	2007	326
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome Filippo M. Santorelli, Sara Shanske, Alfons Macaya, Annals of Neurology	1993	256
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, Brain	2007	246
Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene Éléonore Eymard-Pierre, Gaëtan Lesca, Sandra Dollet, The American Journal of Human Genetics Rare DiseasesAmyotrophic Lateral SclerosisGenetic DisorderGeneticsRare Neurological Disorders	2002	223
Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation Ilka Wittig, Rosalba Carrozzo, Filippo M. Santorelli, Biochimica et Biophysica Acta (BBA) - Bioenergetics BiochemistryMitochondrial FunctionNatural SciencesMolecular BiologyMitochondrial Oxidative Phosphorylation	2006	215
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, The American Journal of Human Genetics Including Kjellin SyndromeGeneticsSpg15 GeneEncoding SpastizinPathology	2008	211
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness Rosalba Carrozzo, Carlo Dionisi‐Vici, Ulrike Steuerwald, Brain GeneticsPathologyMolecular BiologyMolecular GeneticsDisease Gene Identification	2007	204
Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”) Gabriella Silvestri, Emma Ciafaloni, Filippo M. Santorelli, Neurology	1993	202
Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia Christelle Tesson, Magdalena Nawara, Mustafa A. Salih, The American Journal of Human Genetics Metabolic SyndromeEnergy MetabolismMetabolic DisorderMitochondrial FunctionBiochemistry	2012	196

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