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Publications by Roberta Biancheri

Expanded Spectrum of Pelizaeus–Merzbacher-Like Disease: Literature Revision and Description of a Novel GJC2 Mutation in an Unusually Severe Form

European Journal of Human Genetics
Genetics
2012English

PLP1 Gene Duplication Causes Overexpression and Alteration of the PLP/DM20 Splicing Balance in Fibroblasts From Pelizaeus–Merzbacher Disease Patients

Biochimica et Biophysica Acta - Molecular Basis of Disease
Molecular MedicineMolecular Biology
2009English

Caveolin-3 T78M and T78K Missense Mutations Lead to Different Phenotypes in Vivo and in Vitro

Laboratory Investigation
Forensic MedicinePathologyCell BiologyMolecular Biology
2008English

Pharmacological Rescue of the Dystrophin-Glycoprotein Complex in Duchenne and Becker Skeletal Muscle Explants by Proteasome Inhibitor Treatment

American Journal of Physiology - Cell Physiology
PhysiologyCell Biology
2006English

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