TRANSTHYRETIN-RELATED NEUROMUSCULAR DISEASES: CHARACTERIZATION OF GENE AND PROTEIN CONFIGURATION IN AFFECTED POPULATION BY MEANS OF A MOLECULAR AND BIOCHEMICAL STRATEGY IN A THERAPEUTIC PERSPECTIVE

Pubblicazioni Scientifiche

• 1994 ELECTROPHORESIS

  CAPILLARY ELECTROPHORESIS OF POLYMERASE CHAIN REACTION-AMPLIFIED PRODUCTS IN POLYMER NETWORKS - THE CASE OF KENNEDYS DISEASE

• 1996 ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY

  Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP)

• 1996 CLINICAL GENETICS

  Homozygosity and heterozygosity for the transthyretin Leu64 mutation: Clinical, biochemical and molecular findings

• 1994 HUMAN MUTATION

  A NEW MUTATION (TTR ALA-47) IN THE TRANSTHYRETIN GENE ASSOCIATED WITH HEREDITARY AMYLOIDOSIS

• 1995 HUMAN GENETICS

  HAPLOTYPE ANALYSIS OF COMMON TRANSTHYRETIN MUTATIONS

• 1996 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Decreased affinity of apolipoprotein all to high-density lipoprotein in patients with transthyretin-related amyloidosis (Met30, Gln89, Pro36, and Thr34)