2023 - Research.com Genetics in United States Leader Award
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.
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.
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.
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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Mitochondrial respiratory-chain diseases
Salvatore DiMauro;Eric A Schon.
The New England Journal of Medicine (2003)
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.
Steven G. Pavlakis;Peter C. Phillips;Salvatore DiMauro;Darryl C. De Vivo;Darryl C. De Vivo.
Annals of Neurology (1984)
Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome
Carlos T. Moraes;Salvatore Dimauro;Massimo Zeviani;Anne Lombes.
The New England Journal of Medicine (1989)
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Ichizo Nishino;Jin Fu;Kurenai Tanji;Takeshi Yamada.
Deletions of mitochondrial DNA in Kearns‐Sayre syndrome
M. Zeviani;C. T. Moraes;S. DiMauro;H. Nakase.
Inclusion body myositis and myopathies.
Robert C. Griggs;Valerie Askanas;Salvatore DiMauro;Andrew Engel.
Annals of Neurology (1995)
The genetics and pathology of oxidative phosphorylation.
Jan Smeitink;Lambert van den Heuvel;Salvatore DiMauro.
Nature Reviews Genetics (2001)
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.
Massimo Zeviani;Serenella Servidei;Cinzia Gellera;Enrico Bertini.
Human mitochondrial DNA: roles of inherited and somatic mutations
Eric A. Schon;Salvatore DiMauro;Michio Hirano.
Nature Reviews Genetics (2012)
Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface
Eduardo Bonilla;Craig E. Samitt;Armand F. Miranda;Armand F. Miranda;Arthur P. Hays;Arthur P. Hays.
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