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Overview

Claudio Bruno is affiliated with the Istituto Giannina Gaslini in Italy and has an extensive publication record in the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Their research focuses primarily on neurogenetic and muscular disorders alongside RNA modifications, congenital anomalies, and muscle physiology.

The scientist's recent publications demonstrate engagement with spinal muscular atrophy and related topics. Key papers include:

  • Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls, 2021, New England Journal of Medicine
  • Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial, 2021, The Lancet Neurology
  • Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen, 2020, The Journal of Pediatrics
  • Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial, 2022, The Lancet Neurology
  • Clinical Variability in Spinal Muscular Atrophy Type III, 2020, Annals of Neurology

Bruno collaborates frequently with other researchers in the field, including:

  • Eugenio Mercuri
  • Adele D'Amico
  • Marika Pane
  • Giorgia Coratti
  • Valeria Sansone

Their work is also regularly published in several scientific journals, notably:

  • Neuromuscular Disorders
  • Neurology
  • Orphanet Journal of Rare Diseases
  • Neurological Sciences
  • Annals of Neurology

In their primary fields of study, Bruno focuses on Medicine as well as Biochemistry, Genetics and Molecular Biology, with particular attention to subfields such as Molecular Biology, Genetics, Surgery, Physiology, and Cardiology and Cardiovascular Medicine.

The main topics addressed in Bruno's research include:

  • Neurogenetic and Muscular Disorders Research
  • RNA modifications and cancer
  • Congenital Anomalies and Fetal Surgery
  • Muscle Physiology and Disorders
  • Mitochondrial Function and Pathology
  • RNA Research and Splicing
  • Cardiac Structural Anomalies and Repair

Best Publications

  • Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

    Richard S. Finkel;Eugenio Mercuri;Basil T. Darras;Anne M. Connolly

  • Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

    Carlo Minetti;Federica Sotgia;Claudio Bruno;Claudio Bruno;Paolo Scartezzini

  • Respiratory Complex III Is Required to Maintain Complex I in Mammalian Mitochondria

    Rebeca Acı́n-Pérez;Marı́a Pilar Bayona-Bafaluy;Marı́a Pilar Bayona-Bafaluy;Patricio Fernández-Silva;Raquel Moreno-Loshuertos

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

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

  • Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.

    Mario Pescatori;Aldobrando Broccolini;Carlo Minetti;Enrico Bertini

  • Caveolinopathies: from the biology of caveolin-3 to human diseases.

    Elisabetta Gazzerro;Federica Sotgia;Claudio Bruno;Michael P Lisanti

  • North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

    Elena Mazzone;Diego Martinelli;Angela Berardinelli;Sonia Messina;Sonia Messina

  • Reliability of the North Star Ambulatory Assessment in a multicentric setting.

    E.S. Mazzone;S. Messina;S. Messina;G. Vasco;M. Main

  • Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene

    C.M. Sue;K. Tanji;G. Hadjigeorgiou;A.L. Andreu

  • A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.

    Dominic Thyagarajan;Susan Bressman;Claudio Bruno;Serge Przedborski

  • Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

    Michelangelo Mancuso;Daniele Orsucci;Corrado Angelini;Enrico Bertini

  • Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

    I. Carbone;C. Bruno;F. Sotgia;M. Bado

  • Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

    E. Mercuri;E. Bertini;S. Messina;A. Solari

  • McArdle disease: a clinical review

    R Quinlivan;J Buckley;M James;A Twist

  • Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial.

    Eugenio Mercuri;Eugenio Mercuri;Francesco Muntoni;Francesco Muntoni;Giovanni Baranello;Riccardo Masson

  • 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

  • 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

  • The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

    Michelangelo Mancuso;Daniele Orsucci;Corrado Angelini;Enrico Bertini

  • Impairment of Caveolae Formation and T-System Disorganization in Human Muscular Dystrophy with Caveolin-3 Deficiency

    Carlo Minetti;Massimo Bado;Paolo Broda;Federica Sotgia;Federica Sotgia

  • Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes

    Marika Pane;Elena Stacy Mazzone;Serena Sivo;Maria Pia Sormani

Frequent Co-Authors

Carlo Minetti
Carlo Minetti University of Genoa
Eugenio Mercuri
Eugenio Mercuri Catholic University of the Sacred Heart
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Filippo M. Santorelli
Filippo M. Santorelli Fondazione Stella Maris
Giacomo P. Comi
Giacomo P. Comi University of Milan
Salvatore DiMauro
Salvatore DiMauro Columbia University
Francesco Muntoni
Francesco Muntoni University College London
Federico Zara
Federico Zara University of Genoa
Corrado Angelini
Corrado Angelini University of Padua
Marina Mora
Marina Mora Istituto Neurologico Carlo Besta

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