F
Filippo M. Santorelli
Researcher at Boston Children's Hospital
Publications - 586
Citations - 17648
Filippo M. Santorelli is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Ataxia & Mitochondrial DNA. The author has an hindex of 62, co-authored 535 publications receiving 15373 citations. Previous affiliations of Filippo M. Santorelli include University of Pisa & Radboud University Nijmegen Medical Centre.
Papers
More filters
Journal ArticleDOI
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Giovanni Stevanin,Filippo M. Santorelli,Hamid Azzedine,Hamid Azzedine,Paula Coutinho,Jacques Chomilier,Paola S. Denora,Elodie Martin,Elodie Martin,Anne Marie Ouvrard-Hernandez,Alessandra Tessa,Naima Bouslam,Naima Bouslam,Alexander Lossos,Perrine Charles,José Leal Loureiro,N. Elleuch,N. Elleuch,Christian Confavreux,Vítor Tedim Cruz,Merle Ruberg,Merle Ruberg,Eric LeGuern,Eric LeGuern,D. Grid,Meriem Tazir,Bertrand Fontaine,Bertrand Fontaine,Alessandro Filla,Enrico Bertini,Alexandra Durr,Alexandra Durr,Alexis Brice +32 more
TL;DR: Ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland are identified, suggesting a loss-of-function mechanism in ARHSP.
Journal ArticleDOI
COQ2 Nephropathy: A Newly Described Inherited Mitochondriopathy with Primary Renal Involvement
Francesca Diomedi-Camassei,Silvia Di Giandomenico,Filippo M. Santorelli,Gianluca Caridi,Fiorella Piemonte,Giovanni Montini,Gian Marco Ghiggeri,Luisa Murer,Laura Barisoni,Anna Pastore,Andrea Onetti Muda,Marialuisa Valente,Enrico Bertini,Francesco Emma +13 more
TL;DR: It is suggested that inherited COQ2 mutations cause a primary glomerular disease with renal lesions that vary in severity and are not necessarily associated with neurological signs.
Journal ArticleDOI
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Temistocle Lo Giudice,Federica Lombardi,Filippo M. Santorelli,Toshitaka Kawarai,Antonio Orlacchio +4 more
TL;DR: Interactome networks have been postulated by bioinformatics and biological analyses of spastic paraplegia genes, which would contribute to the development of new therapeutic approaches.
Journal ArticleDOI
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
TL;DR: The findings suggest that the mtDNA nt 8993 mutation is a relatively common cause of Leigh's syndrome, and a good correlation between percentage of mutant mitochondrial genomes and severity of the clinical phenotype is revealed.
Journal ArticleDOI
Methylmalonic and propionic aciduria.
TL;DR: The recent implementation of neonatal screening by electrospray tandem mass spectrometry has decreased early mortality and improved the short‐term outcome, without changing the detection rate of both diseases in the screening population compared to clinically detected cases.