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Biology and Biochemistry

D-Index
46
Citations
7092
World Ranking
18978
National Ranking
430

Overview

Antoni L. Andreu is affiliated with the Autonomous University of Barcelona in Spain. Their research focuses primarily on the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with particular emphasis on Molecular Biology and Rheumatology as notable subfields.

The scientist has contributed extensively to topics such as Glycogen Storage Diseases and Myoclonus, Health and Medical Research Impacts, Neurological Disorders and Treatments, Genetics and Neurodevelopmental Disorders, Lysosomal Storage Disorders Research, Biosimilars and Bioanalytical Methods, and Biomedical and Engineering Education.

Their recent works include the following publications:

  • Digitalisation and COVID-19: The Perfect Storm, 2020, Biomedicine Hub
  • Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC), 2020, Orphanet Journal of Rare Diseases
  • Recommendations for robust and reproducible preclinical research in personalised medicine, 2023, BMC Medicine
  • Clinical characteristics of COVID-19 in older adults. A retrospective study in long-term nursing homes in Catalonia, 2021, PLoS ONE
  • Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models, 2020, International Journal of Molecular Sciences

Frequent publication venues for Antoni L. Andreu include:

  • Orphanet Journal of Rare Diseases
  • International Journal of Molecular Sciences
  • JMIR Medical Education
  • Cell and Gene Therapy Insights
  • Zenodo (CERN European Organization for Nuclear Research)

Regular collaborators in their research output consist of Antón Ussi, Florence Biétrix, Alejandro Lucía, Tomàs Pinós, and Emanuela Oldoni.

Best Publications

  • Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA

    Antoni L. Andreu;Michael G. Hanna;Heinz Reichmann;Claudio Bruno

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

    I Nishino;A Spinazzola;A Papadimitriou;S Hammans

  • A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.

    Antoni L Andreu;Nicoletta Checcarelli;So Iwata;Sara Shanske

  • McArdle disease: what do neurologists need to know?

    Alejandro Lucia;Gisela Nogales-Gadea;Margarita Pérez;Miguel A Martín

  • A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV

    Claudio Bruno;Claudio Bruno;Andrea Martinuzzi;Yingying Tang;Antoni L. Andreu

  • Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

    Alejandro Lucia;Jonatan R Ruiz;Alfredo Santalla;Gisela Nogales-Gadea

  • Mitochondrial DNA abnormalities and autistic spectrum disorders

    Roser Pons;Antoni L. Andreu;Nicoletta Checcarelli;Maya R. Vilà

  • A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

    A. L. Andreu;C. Bruno;T. C. Dunne;K. Tanji

  • Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.

    Rafael Artuch;Gloria Brea-Calvo;Paz Briones;Asunción Aracil

  • Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

    Miguel A. Martín;Juan C. Rubio;Jenny Buchbinder;Roberto Fernández-Hojas

  • The Eutherian Armcx genes regulate mitochondrial trafficking in neurons and interact with Miro and Trak2.

    Guillermo López-Doménech;Román Serrat;Serena Mirra;Salvatore D'Aniello;Salvatore D'Aniello

  • Favorable responses to acute and chronic exercise in McArdle patients.

    José L Maté-Muñoz;Maria Moran;Margarita Pérez;Carolina Chamorro-Viña

  • Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

    Emiliano González-Vioque;Javier Torres-Torronteras;Javier Torres-Torronteras;Antoni L. Andreu;Antoni L. Andreu;Ramon Martí;Ramon Martí

  • Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

    A. L. Andreu;C. Bruno;S. Shanske;A. Shtilbans

  • Leigh Syndrome Associated With Mitochondrial Complex I Deficiency Due to a Novel Mutation in the NDUFS1 Gene

    Miguel A. Martín;Alberto Blázquez;Luis G. Gutierrez-Solana;Daniel Fernández-Moreira

  • Chronic psychosocial stress induces reversible mitochondrial damage and corticotropin-releasing factor receptor type-1 upregulation in the rat intestine and IBS-like gut dysfunction.

    María Vicario;Carmen Alonso;Mar Guilarte;Jordi Serra

  • Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

    Massimiliano Filosto;Michelangelo Mancuso;Cristofol Vives-Bauza;Maya R. Vilà

  • Oxidative Damage Compromises Energy Metabolism in the Axonal Degeneration Mouse Model of X-Adrenoleukodystrophy

    Jorge Galino;Montserrat Ruiz;Stéphane Fourcade;Agatha Schlüter

  • Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy

    Jone López-Erauskin;Jorge Galino;Patrizia Bianchi;Stéphane Fourcade

  • Safety profile of tissue plasminogen activator treatment among stroke patients carrying a common polymorphism (C-1562T) in the promoter region of the matrix metalloproteinase-9 gene.

    Joan Montaner;Israel Fernández-Cadenas;Carlos A. Molina;Jasone Monasterio

Frequent Co-Authors

Alejandro Lucia
Alejandro Lucia European University of Madrid
Salvatore DiMauro
Salvatore DiMauro Columbia University
Jonatan R. Ruiz
Jonatan R. Ruiz University of Granada
Julio Montoya
Julio Montoya University of Zaragoza
Eduardo Bonilla
Eduardo Bonilla Columbia University
Claudio Bruno
Claudio Bruno Istituto Giannina Gaslini
Sara Shanske
Sara Shanske Columbia University Medical Center
Eduardo Ruiz-Pesini
Eduardo Ruiz-Pesini University of Zaragoza
Pere Domingo
Pere Domingo Autonomous University of Barcelona
Michio Hirano
Michio Hirano Columbia University

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