NEUROMUSCULAR TISSUE BANK

Pubblicazioni Scientifiche

• BRAIN

  Riboflavin therapy - Biochemical heterogeneity in two adult lipid storage myopathies

• HAEMATOLOGIA

  Myopathy with tubular aggregates and hypertrophic cardiomyopathy in a patient with type IIA von Willebrand disease

• ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES

  MULTIFACTORIAL STUDY OF INFLAMMATORY MYOPATHIES - REPORT OF 29 CASES

• ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES

  Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy

• JAPANESE HEART JOURNAL

  HYPERTROPHIC CARDIOMYOPATHY WITH MITOCHONDRIAL MYOPATHY - A NEW PHENOTYPE OF COMPLEX-II DEFECT

• JOURNAL OF CLINICAL INVESTIGATION

  RNA metabolism in myotonic dystrophy - Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance

• MUSCLE & NERVE

  Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: Effect of propionyl-L-carnitine

• NEUROLOGY

  Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

• NEUROLOGY

  Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect

• PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

  MELAS MUTATION IN MTDNA BINDING-SITE FOR TRANSCRIPTION TERMINATION FACTOR CAUSES DEFECTS IN PROTEIN-SYNTHESIS AND IN RESPIRATION BUT NO CHANGE IN LEVELS OF UPSTREAM AND DOWNSTREAM MATURE TRANSCRIPTS