C. Scotton

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

R. Schindler, C. Scotton, Jianguo Zhang et al. · Journal of Clinical Investigation · 2015 · 101 citations · Full text

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing<i>SPP1</i>and<i>LTBP4</i>variants

J.C. van den Bergen, Monika Hiller, Stefan Böhringer et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 89 citations · Full text

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Simona Brioschi, Francesca Gualandi, C. Scotton et al. · BMC Medical Genetics · 2012 · 78 citations · Full text

Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Alessia Nasca, C. Scotton, Irina Zaharieva et al. · Human Mutation · 2017 · 60 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +15

The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms

Matteo Bovolenta, Daniela Erriquez, Emanuele Valli et al. · PLoS ONE · 2012 · 55 citations · Full text

Dmd Lncrnas, Control Transcription, Systems Biology +14