DISSECTING THE “LIMB-GIRDLE” MUSCULAR DYSTROPHIES

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF PATHOLOGY

  Integrin α7β1 in muscular dystrophy/myopathy of unknown etiology

• HUMAN MUTATION

  Private β- and γ-sarcoglycan gene mutations:: Evidence of a founder effect in northern Italy

• JOURNAL OF MEDICAL GENETICS

  Novel sarcoglycan gene mutations in a large cohort of Italian patients

• NEUROLOGY

  Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

• NEUROLOGY

  LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy

• NEUROMUSCULAR DISORDERS

  LGMD2E patients risk developing dilated cardiomyopathy