Search filters

List of works by Chiara Scotton

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

scientific article published on 24 August 2013

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

scientific article

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

scientific article

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

scientific article published on 25 January 2012

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

scientific article published on 20 July 2013

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

scientific article

Paulina is supported by:

About Paulina

Help