What is he best known for?
The fields of study he is best known for:
- Gene
- Internal medicine
- Mutation
Salvatore DiMauro spends much of his time researching Genetics, Mitochondrial DNA, Mitochondrial myopathy, Internal medicine and Endocrinology.
His studies in Mutation, Gene, Point mutation, Respiratory chain and Missense mutation are all subfields of Genetics research.
His studies in Mitochondrial DNA integrate themes in fields like Molecular biology and Mitochondrion.
His biological study spans a wide range of topics, including Lactic acidosis, Kearns–Sayre syndrome, Muscle biopsy, Pathology and Mitochondrial encephalomyopathy.
In his study, Pearson syndrome is strongly linked to Multiple mitochondrial DNA deletions, which falls under the umbrella field of Pathology.
The various areas that Salvatore DiMauro examines in his Endocrinology study include PDSS2 and Recurrent myoglobinuria.
His most cited work include:
- Mitochondrial respiratory-chain diseases (1245 citations)
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. (922 citations)
- Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome (828 citations)
What are the main themes of his work throughout his whole career to date?
Genetics, Mitochondrial DNA, Internal medicine, Endocrinology and Pathology are his primary areas of study.
His Genetics research focuses on Molecular biology and how it connects with Cytochrome c oxidase.
His study in Mitochondrial DNA is interdisciplinary in nature, drawing from both Respiratory chain, Mitochondrion and Point mutation.
His Respiratory chain research includes themes of Mitochondrial Encephalomyopathies, Human mitochondrial genetics, Nuclear DNA and Mitochondrial respiratory chain.
His study in Myopathy, Glycogen, Muscle biopsy, Myoglobinuria and Lactic acidosis is carried out as part of his studies in Internal medicine.
Salvatore DiMauro combines subjects such as Exercise intolerance and Enzyme with his study of Endocrinology.
He most often published in these fields:
- Genetics (36.27%)
- Mitochondrial DNA (33.67%)
- Internal medicine (33.09%)
What were the highlights of his more recent work (between 2010-2021)?
- Genetics (36.27%)
- Mitochondrial DNA (33.67%)
- Internal medicine (33.09%)
In recent papers he was focusing on the following fields of study:
His primary areas of investigation include Genetics, Mitochondrial DNA, Internal medicine, Endocrinology and Mitochondrial disease.
His Genetics study frequently links to related topics such as Molecular biology.
His Mitochondrial DNA research incorporates elements of Mutation and Mitochondrion, Cytochrome c oxidase.
The concepts of his Mitochondrion study are interwoven with issues in Mitochondrial Encephalomyopathies, Lactic acidosis, Oxidative phosphorylation and Mitochondrial encephalomyopathy.
His research investigates the connection with Endocrinology and areas like Mitochondrial biogenesis which intersect with concerns in Penetrance and Spinal muscular atrophy.
His Mitochondrial myopathy research includes elements of Muscle biopsy, Nuclear gene and Point mutation.
Between 2010 and 2021, his most popular works were:
- Human mitochondrial DNA: roles of inherited and somatic mutations (433 citations)
- Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing (340 citations)
- The clinical maze of mitochondrial neurology (215 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Internal medicine
- Mutation
Salvatore DiMauro focuses on Genetics, Internal medicine, Mitochondrial DNA, Mutation and Molecular biology.
His study in Mitochondrion and RNA splicing is carried out as part of his Genetics studies.
His Internal medicine research focuses on Endocrinology and how it relates to Phenotype.
His study looks at the relationship between Mitochondrial DNA and topics such as Mitochondrial matrix, which overlap with Heteroplasmy, Protein subunit and Cytochrome c.
His work carried out in the field of Mutation brings together such families of science as DNAJA3, Glycogen branching enzyme, Glycogen storage disease type IV and Exon.
Salvatore DiMauro interconnects Fukutin, Haploinsufficiency, Gene, Intron and Untranslated region in the investigation of issues within Molecular biology.
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