Luísa Villa

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy

Michela Ripolone, Dario Ronchi, Raffaella Violano et al. · JAMA Neurology · 2015 · 133 citations

Life Sciences, Neurology, Neuroscience +17

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Dario Ronchi, Caterina Garone, Andrea Bordoni et al. · Brain · 2012 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Giulia Ricci, Lucia Ruggiero, Liliana Vercelli et al. · Journal of Neurology · 2016 · 99 citations · Full text

Medicine, Pathology, Clinical Classification Systems +16

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Ana Nikolić, Giulia Ricci, Francesco Sera et al. · BMJ Open · 2016 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy

Lucia Ruggiero, Fabiano Mele, Fiore Manganelli et al. · JAMA Network Open · 2020 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10