GENETIC AND MOLECULAR ANALYSIS OF HMSN I (CHARCOT-MARIE-TOOTH) DISEASE

Pubblicazioni Scientifiche

• 1994 EUROPEAN NEUROLOGY

  17P11.2 DUPLICATION IS A COMMON FINDING IN SPORADIC CASES OF CHARCOT-MARIE-TOOTH TYPE-1

• 1995 JOURNAL OF NEUROLOGY

  MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) BY DETECTION OF 17P11.2 DELETION IN ITALIAN PATIENTS

• 1995 NEUROSCIENCE LETTERS

  MOLECULAR ANALYSIS OF 3 CASES WITH HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH MYELIN OUTFOLDING

• 1995 JOURNAL OF THE NEUROLOGICAL SCIENCES

  PROGRESSIVE SENSORY-MOTOR POLYNEUROPATHY WITH TOMACULOUS CHANGES IS ASSOCIATED TO 17P11.2 DELETION

• 1996 HUMAN MUTATION

  Identification of a 4 bp deletion (1560del4) in Po gene in a family with severe Charcot-Marie-Tooth disease