His primary areas of study are Genetics, Mitochondrial DNA, Pathology, Mutation and Internal medicine. His study in Genetics focuses on Gene, Genetic heterogeneity, Phenotype, Genotype and Missense mutation. The Mitochondrial DNA study combines topics in areas such as Mutation, Mitochondrion and Point mutation.
Filippo M. Santorelli has included themes like Ataxia, Muscular dystrophy and Hereditary spastic paraplegia in his Pathology study. His Mutation research incorporates themes from Sensorineural hearing loss and Cancer research. His Internal medicine study integrates concerns from other disciplines, such as Gastroenterology and Endocrinology.
Filippo M. Santorelli mainly investigates Genetics, Pathology, Mitochondrial DNA, Mutation and Internal medicine. All of his Genetics and Gene, Phenotype, Mutation, Missense mutation and Genetic heterogeneity investigations are sub-components of the entire Genetics study. In his study, Pediatrics is strongly linked to Ataxia, which falls under the umbrella field of Pathology.
His work carried out in the field of Mitochondrial DNA brings together such families of science as Mitochondrion and Point mutation. Filippo M. Santorelli has included themes like Mutant and Hereditary spastic paraplegia in his Mutation study. Filippo M. Santorelli interconnects Gastroenterology and Endocrinology in the investigation of issues within Internal medicine.
His primary scientific interests are in Genetics, Phenotype, Ataxia, Gene mutation and Missense mutation. Filippo M. Santorelli regularly ties together related areas like Sensorineural hearing loss in his Genetics studies. His Phenotype research integrates issues from Mutation, Zebrafish, Human genetics and Mitochondrial DNA.
His studies deal with areas such as Dystonia, Internal medicine and Chorea as well as Ataxia. His studies in Gene mutation integrate themes in fields like Pathology, Hereditary spastic paraplegia, Genetic counseling, Penetrance and Cerebellar peduncle. The Pathology study which covers Compound heterozygosity that intersects with Age of onset.
Genetics, Ataxia, Pediatrics, Gene mutation and Hereditary spastic paraplegia are his primary areas of study. As part of his studies on Genetics, he often connects relevant subjects like Leukodystrophy. His work carried out in the field of Ataxia brings together such families of science as Dystonia, Compound heterozygosity and Etiology, Pathology.
His study looks at the relationship between Gene mutation and topics such as Missense mutation, which overlap with Mutant and Mitochondrial respiratory chain complex I. The Hereditary spastic paraplegia study combines topics in areas such as Colpocephaly, Spastic, Spasticity and Microcephaly. His Cerebellar ataxia research includes elements of Gastroenterology, Internal medicine and Dysarthria.
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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.
Nature Genetics (2007)
COQ2 Nephropathy: A Newly Described Inherited Mitochondriopathy with Primary Renal Involvement
Francesca Diomedi-Camassei;Silvia Di Giandomenico;Filippo M. Santorelli;Gianluca Caridi.
Journal of The American Society of Nephrology (2007)
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Temistocle Lo Giudice;Federica Lombardi;Filippo Maria Santorelli;Toshitaka Kawarai.
Experimental Neurology (2014)
Methylmalonic and propionic aciduria.
Federica Deodato;Sara Boenzi;Filippo M. Santorelli;Carlo Dionisi-Vici.
American Journal of Medical Genetics Part C-seminars in Medical Genetics (2006)
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
Filippo M. Santorelli;Sara Shanske;Alfons Macaya;Darryl C. DeVivo.
Annals of Neurology (1993)
Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation.
Ilka Wittig;Rosalba Carrozzo;Filippo M. Santorelli;Hermann Schägger.
Biochimica et Biophysica Acta (2006)
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
Eleonore Eymard-Pierre;Gaetan Lesca;Sandra Dollet;Filippo Maria Santorelli.
American Journal of Human Genetics (2002)
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").
G. Silvestri;E. Ciafaloni;F. M. Santorelli;S. Shanske.
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Giovanni Stevanin;Hamid Azzedine;Paola Denora;Amir Boukhris.
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
C. Sobreira;M. Hirano;S. Shanske;R. K. Keller.
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