Slide 1 Muscle Disease Neurology Rotation Lecture Series Last Updated by Lindsay Pagano Summer 2013 Slide 2 Case Presentation A 5 year old male is brought to your office…

Research and development of new drugs for human diseases Valentia Biopharma - In vivo Drug Discovery Currently focused on finding lead compounds to achieve an effective treatment…

Varying MNBL1 concentration to study alternative splicing in Myotonic Dystrophy Investigating the effects of MBNL1 concentration on alternative splicing in Myotonic Dystrophy…

Muscle Disease Neurology Rotation Lecture Series Last Updated by Lindsay Pagano Summer 2013 Case Presentation A 5 year old male is brought to your office because his mother…

Analysis of Differential Gene Expression in a Myotonic Dystrophy Tissue Cultue Model Analysis of Differential Gene Expression in a Myotonic Dystrophy Tissue Cultue Model…

Nemoci spojené s expanzí mikrosatelitních repetitivních sekvencí – myotonická dystrofie typu 1 Kongenitální myotonie a mutace v genu CLCN1  Half of the human…