What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
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.
His most cited work include:
- COQ2 Nephropathy: A Newly Described Inherited Mitochondriopathy with Primary Renal Involvement (256 citations)
- Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum (236 citations)
- The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome (208 citations)
What are the main themes of his work throughout his whole career to date?
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.
He most often published in these fields:
- Genetics (38.33%)
- Pathology (23.17%)
- Mitochondrial DNA (20.03%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (38.33%)
- Phenotype (11.67%)
- Ataxia (11.15%)
In recent papers he was focusing on the following fields of study:
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.
Between 2018 and 2021, his most popular works were:
- The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB Activation. (23 citations)
- ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis. (22 citations)
- Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. (20 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
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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