NEUROMUSCULAR TISSUE BANK

Pubblicazioni Scientifiche

• 1999-12-01 BRAIN

  Riboflavin therapy - Biochemical heterogeneity in two adult lipid storage myopathies

• 1996-01-01 HAEMATOLOGIA

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

• 1993-01-01 ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES

  MULTIFACTORIAL STUDY OF INFLAMMATORY MYOPATHIES - REPORT OF 29 CASES

• 1996-02-01 ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES

  Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy

• 1993-01-01 JAPANESE HEART JOURNAL

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

• 1997-04-01 JOURNAL OF CLINICAL INVESTIGATION

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

• 1997-09-01 MUSCLE & NERVE

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

• 1999-03-23 NEUROLOGY

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

• 1996-10-01 NEUROLOGY

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

• 1992-05-15 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