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List of works by Roberta Biancheri

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

scientific article published on 4 February 2008

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

scientific article

Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein

scientific journal article

Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment

scientific article

Phenotypic characterization of hypomyelination and congenital cataract

scientific article published in August 2007

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