Claudio Bruno

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

Carlo Minetti, Federica Sotgia, Claudio Bruno et al. · Nature Genetics · 1998 · 586 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

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

Rebeca Acín‐Pérez, M. Pilar Bayona‐Bafaluy, Patricio Fernández‐Silva et al. · Molecular Cell · 2004 · 468 citations · Full text

Mammalian Mitochondria, Mitochondrial Function, Mitochondrial Dynamic +9

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Basil T. Darras, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska et al. · New England Journal of Medicine · 2021 · 262 citations · Full text

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, Francesco Muntoni, Giovanni Baranello et al. · The Lancet Neurology · 2021 · 237 citations

Gene Therapies, Clinical Trials, Neurology +2

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

Michelangelo Mancuso, Daniele Orsucci, C. Angelini et al. · Neurology · 2013 · 170 citations