World's Best Scientists 2026 revealed!

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Genetics

D-Index
108
Citations
36726
World Ranking
568
National Ranking
282

Medicine

D-Index
112
Citations
38815
World Ranking
5200
National Ranking
2811

Overview

Michio Hirano is affiliated with Columbia University in the United States. Their research spans biochemistry, genetics, molecular biology, and medicine, with a focus on molecular biology, genetics, clinical biochemistry, rheumatology, and physiology.

The main topics covered in their work include:

  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • Biochemical and Molecular Research
  • Glycogen Storage Diseases and Myoclonus
  • Genetics and Neurodevelopmental Disorders
  • ATP Synthase and ATPases Research
  • Neurogenetic and Muscular Disorders Research

Michio Hirano's recent publications reflect their focus on mitochondrial diseases and related metabolic dysfunctions. Recent papers include:

  • "Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity," 2021, Journal of Clinical Investigation
  • "OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases," 2023, Communications Biology
  • "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network," 2020, Journal of Inherited Metabolic Disease
  • "Mitochondrial diseases in North America," 2020, Neurology Genetics
  • "Intracellular calcium leak as a therapeutic target for RYR1-related myopathies," 2020, Acta Neuropathologica

Their frequent co-authors, who have collaborated on numerous projects, include:

  • Martin Picard
  • Kristin Engelstad
  • Caroline Trumpff
  • Gabriel Sturm
  • Kalpita R. Karan

Michio Hirano publishes regularly in several venues, with the highest number of publications appearing in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Neurology
  • Neuromuscular Disorders
  • Molecular Genetics and Metabolism
  • Orphanet Journal of Rare Diseases

Best Publications

  • Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

    Ichizo Nishino;Jin Fu;Kurenai Tanji;Takeshi Yamada

  • Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

    Ichizo Nishino;Antonella Spinazzola;Michio Hirano

  • Human mitochondrial DNA: roles of inherited and somatic mutations

    Eric A. Schon;Salvatore DiMauro;Michio Hirano

  • 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

  • MELAS: Clinical features, biochemistry, and molecular genetics

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

  • Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Sumit Parikh;Amy Goldstein;Mary Kay Koenig;Fernando Scaglia

  • Mmh/Ogg1 gene inactivation results in accumulation of 8-hydroxyguanine in mice

    Osamu Minowa;Tsuyoshi Arai;Masanori Hirano;Yoshiaki Monden

  • MELAS: An original case and clinical criteria for diagnosis

    Michio Hirano;Enzo Ricci;M. Richard Koenigsberger;Richard Defendini

  • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

    Michio Hirano;G. Silvestri;D. M. Blake;A. Lombes

  • Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts.

    Michio Hirano;Steven G. Pavlakis

  • Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

    Luis Carlos López;Markus Schuelke;Catarina M. Quinzii;Tomotake Kanki

  • FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

    Anu Suomalainen;Anu Suomalainen;Jenni M Elo;Kirsi H Pietiläinen;Anna H Hakonen

  • Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.

    P. Kaufmann;K. Engelstad;Y. Wei;S. Jhung

  • A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency

    Catarina Quinzii;Ali Naini;Leonardo Salviati;Eva Trevisson

  • Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

    I Nishino;A Spinazzola;A Papadimitriou;S Hammans

  • The clinical maze of mitochondrial neurology

    Salvatore DiMauro;Eric A. Schon;Valerio Carelli;Michio Hirano

  • The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

    Klaus Gempel;Haluk Topaloglu;Beril Talim;Peter Schneiderat

  • Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

    Celine Perier;Kim Tieu;Christelle Guégan;Casper Caspersen

  • ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

    Clotilde Lagier-Tourenne;Meriem Tazir;Luis Carlos López;Catarina M. Quinzii

  • Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

    Salvatore Dimauro;Guido Davidzon;Michio Hirano;Rita Horvath

Frequent Co-Authors

Salvatore DiMauro
Salvatore DiMauro Columbia University
Eduardo Bonilla
Eduardo Bonilla Columbia University
Eric A. Schon
Eric A. Schon Columbia University Medical Center
Ichizo Nishino
Ichizo Nishino Tokyo Medical University
Darryl C. De Vivo
Darryl C. De Vivo Columbia University
Leonardo Salviati
Leonardo Salviati University of Padua
Sara Shanske
Sara Shanske Columbia University Medical Center
Lewis P. Rowland
Lewis P. Rowland Columbia University Medical Center
Arthur P. Hays
Arthur P. Hays Columbia University
Rita Horvath
Rita Horvath University of Cambridge

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