GENETIC AND PHYSICAL MAPPING OF THE FRIEDREICH’S ATAXIA REGION ON HUMAN CHROMOSOME 9 AND CLONING OF CANDIDATE GENES

Pubblicazioni Scientifiche

• 1997 HUMAN MOLECULAR GENETICS

  The friedreich ataxia GAA triplet repeat: Premutation and normal alleles

• 1995 EUROPEAN JOURNAL OF HUMAN GENETICS

  DETECTION OF HOMOZYGOSITY BY DESCENT

• 1994 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  LATE-ONSET FRIEDREICHS-DISEASE - CLINICAL-FEATURES AND MAPPING OF MUTATION TO THE FRDA LOCUS

• 1994 BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY

  ISOLATION OF A NEW GENE IN THE FRIEDREICH ATAXIA CANDIDATE REGION ON HUMAN-CHROMOSOME-9 BY CDNA DIRECT SELECTION

• 1995 ANNALS OF NEUROLOGY

  EARLY-ONSET ATAXIA WITH CARDIOMYOPATHY AND RETAINED TENDON REFLEXES MAPS TO THE FRIEDREICHS ATAXIA LOCUS ON CHROMOSOME 9Q

• 1994 JOURNAL OF MEDICAL GENETICS

  LINKAGE DISEQUILIBRIUM BETWEEN FD1-D9S202 HAPLOTYPES AND THE FRIEDREICHS ATAXIA LOCUS IN A CENTRAL-SOUTHERN ITALIAN POPULATION