Sara Bonato

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

Francesca Magri, Alessandra Govoni, Maria Grazia D’Angelo et al. · Journal of Neurology · 2011 · 182 citations

Phenotype Characterization, Urology, Genetic Epidemiology +5

Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients

Tanja Schmitz‐Hübsch, Sophie Tézenas du Montcel, László Balikó et al. · Movement Disorders · 2006 · 167 citations

Gait pattern in Duchenne muscular dystrophy

Maria Grazia D’Angelo, Matteo Berti, Luigi Piccinini et al. · Gait & Posture · 2008 · 126 citations

Gait Pattern, Kinesiology, Rehabilitation +5

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Aurelio Reyes, Laura Melchionda, Alessia Nasca et al. · The American Journal of Human Genetics · 2015 · 111 citations · Full text

Mitochondrial Myopathy, Genome Instability, Mitochondrial Function +8

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

Chiara Vantaggiato, Claudia Crimella, Giovanni Airoldi et al. · Brain · 2013 · 86 citations · Full text

Genetics, Molecular Biology, Cytoskeleton +17