World's Best Scientists 2026 revealed!
Award Badge
Genetics
USA
2026

D-Index & Metrics

Genetics

D-Index
139
Citations
67843
World Ranking
191
National Ranking
100

Medicine

D-Index
144
Citations
74608
World Ranking
1448
National Ranking
846

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2024 - Research.com Genetics in United States Leader Award
  • 2023 - Research.com Genetics in United States Leader Award

Overview

Salvatore DiMauro is affiliated with Columbia University in the United States, focusing on the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Their research work spans several subfields including Molecular Biology, Clinical Biochemistry, Genetics, Rheumatology, and Physiology.

The scientist's primary topics of study encompass investigations into Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus, Genetics and Neurodevelopmental Disorders, ATP Synthase and ATPases Research, Lysosomal Storage Disorders Research, and RNA modifications and cancer.

Notable recent publications include:

  • "Mitochondrial diseases in North America," 2020, published in Neurology Genetics
  • "Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency," 2020, published in The EMBO Journal
  • "GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes," 2020, published in Journal of Inherited Metabolic Disease
  • "Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)," 2022, published in Molecular Genetics and Metabolism
  • "The North American mitochondrial disease registry," 2020, published in Journal of Translational Genetics and Genomics

Frequent co-authors in Salvatore DiMauro's research include Michio Hirano, Valentina Emmanuele, Hasan O. Akman, Richard Buchsbaum, and John L.P. Thompson. Their collaborative efforts have contributed to multiple publications across various journals.

Salvatore DiMauro's work has appeared regularly in publication venues such as Neurology Genetics, Journal of Inherited Metabolic Disease, Molecular Genetics and Metabolism, The EMBO Journal, and SSRN Electronic Journal. This variety reflects a multidisciplinary approach spanning biochemical and clinical aspects of mitochondrial and metabolic disorders.

Best Publications

  • Mitochondrial respiratory-chain diseases

    Salvatore DiMauro;Eric A Schon

  • 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

  • Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

    Carlos T. Moraes;Salvatore Dimauro;Massimo Zeviani;Anne Lombes

  • 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

  • Human mitochondrial DNA: roles of inherited and somatic mutations

    Eric A. Schon;Salvatore DiMauro;Michio Hirano

  • The genetics and pathology of oxidative phosphorylation.

    Jan Smeitink;Lambert van den Heuvel;Salvatore DiMauro

  • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

    Massimo Zeviani;Serenella Servidei;Cinzia Gellera;Enrico Bertini

  • 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

  • A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA

    Eric A. Schon;Rosario Rizzuto;Carlos T. Moraes;Hirofumi Nakase

  • mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

    Carlos T. Moraes;Sara Shanske;Hans Jürgen Tritschler;June R. Aprille

  • Mitochondrial Disorders in the Nervous System

    Salvatore DiMauro;Eric A. Schon

  • Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

    L C Papadopoulou;C M Sue;M M Davidson;K Tanji

  • Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy

    E. Arnaudo;S. Shanske;S. DiMauro;E.A. Schon

  • Muscle carnitine palmityltransferase deficiency and myoglobinuria

    Salvatore DiMauro;Paola M. Melis DiMauro

  • Mitochondrial DNA mutations and pathogenesis.

    Eric A. Schon;Eduardo Bonilla;Salvatore DiMauro

  • MELAS: Clinical features, biochemistry, and molecular genetics

    E. Ciafaloni;E. Ricci;S. Shanske;C. T. Moraes

  • Mitochondrial DNA mutations in human disease.

    Salvatore DiMauro;Eric A. Schon

  • Mitochondrial DNA and disease

    Salvatore DiMauro;Guido Davidzon

Frequent Co-Authors

Michio Hirano
Michio Hirano Columbia University
Sara Shanske
Sara Shanske Columbia University Medical Center
Eduardo Bonilla
Eduardo Bonilla Columbia University
Eric A. Schon
Eric A. Schon Columbia University Medical Center
Darryl C. De Vivo
Darryl C. De Vivo Columbia University
Claudio Bruno
Claudio Bruno Istituto Giannina Gaslini
Carlos T. Moraes
Carlos T. Moraes University of Miami
Filippo M. Santorelli
Filippo M. Santorelli Fondazione Stella Maris
Massimo Zeviani
Massimo Zeviani University of Padua
Lewis P. Rowland
Lewis P. Rowland Columbia University Medical Center

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Pursuing a degree in Genetics opens the door to a variety of healthcare careers and advanced study options. Many students interested in genetics also explore pathways in nursing, healthcare administration, and related health sciences. If you’re seeking nursing credentials, you might consider an nursing school that doesn't require teas exams for a more accessible admissions process.

For those looking for a rapid entry into the field, lpn programs online allow students to fast-track their way to a practical nursing license. If you’re aiming toward leadership or administrative roles, explore one of the many cheap mha programs to boost your expertise in healthcare management without breaking the bank.

For those who wish to advance to the highest tiers of healthcare education, consider one of the cheapest phd nursing programs available online. Expanding your knowledge in these related fields can enhance your career prospects and give you a competitive edge in both clinical and research settings.

Best Scientists Citing Salvatore DiMauro

Trending Scientists

Recently Published Articles