DISSECTING THE “LIMB-GIRDLE” MUSCULAR DYSTROPHIES

Pubblicazioni Scientifiche

• 2001 NEUROLOGY

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

• 2002 AMERICAN JOURNAL OF PATHOLOGY

  Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology

• 2003 NEUROMUSCULAR DISORDERS

  LGMD2E patients risk developing dilated cardiomyopathy

• 2003 JOURNAL OF MEDICAL GENETICS

  Novel sarcoglycan gene mutations in a large cohort of Italian patients

• 2004 NEUROLOGY

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

• 2000 HUMAN MUTATION

  Private beta- and gamma-sarcoglycan gene mutations: Evidence of a founder effect in northern Italy