Marina Roé

Communications

Personalized medicine for Collagen VI Congenital Muscular Dystrophies

Project description: Congenital Muscular Dystrophies are a group of rare, highly disabling neuromuscular diseases with a reduced life expectancy. Over...

Update of the international patient registry of Congenital Muscular Dystrophies (CMDIR)

Proyectos

Project description: The International Registry of Congenital Muscular Dystrophies (CMDIR) was created in 2009 by CureCMD, a patient association of...

RNA editing by recruiting endogenous ADAR using long RNAs to correct glycine substitutions in COL6-RD

Proyectos

RNA editing by recruiting endogenous ADAR using long RNAs to correct glycine substitutions in COL6-RD Summary: Collagen VI-related dystrophies (COL6-RD)...

Study of gene therapy by “exon skipping” for intronic mutations in the pre-clinical phase

Proyectos

Study of gene therapy by “exon skipping” for intronic mutations in the pre-clinical phase Project description:A large international research group...

Development of Selective Silencing Mutation as a Therapy for the Collagen VI Related Dystrophies.

Proyectos

Development of Selective Mutation Silencing as a Therapy for the Collagen VI Related Dystrophies. Project descriptionThe project is based on...

Natural History, diagnosis and treatment of collagen VI-related muscular dystrophies

Proyectos

“Natural History, diagnosis and treatment of collagen VI-related muscular dystrophies” Project descriptionThe project includes: Application of CRISPR-Cas9 technology: Investigating the...