Elena Procopio

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini et al. · Human Molecular Genetics · 2007 · 182 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 157 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

Renzo Manara, Elena Priante, Marco Grimaldi et al. · Journal of Inherited Metabolic Disease · 2011 · 88 citations

Medicine, Neurology, Radiology +11

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

Elena Mazzone, Giorgia Coratti, Maria Pia Sormani et al. · PLoS ONE · 2016 · 83 citations · Full text

Medicine, Neurology, Rehabilitation Medicine +12