THE FUNCTIONAL ROLE OF FRATAXIN IN THE PATHOGENESIS OF FRIEDREICH’S ATAXIA

Pubblicazioni Scientifiche

• 1999 GENETIC COUNSELING

  Genetic counseling in a French Friedreich's ataxia family

• 2000 CLINICAL NEUROPHYSIOLOGY

  Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease

• 1998 JOURNAL OF NEUROLOGY

  Determinants of onset age in Friedreich's ataxia

• 1999 ANNALS OF NEUROLOGY

  Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

• 1997 NEUROLOGY

  Broadened Friedreich's ataxia phenotype after gene cloning - Minimal GAA expansion causes late-onset spastic ataxia

• 1997 NEW ENGLAND JOURNAL OF MEDICINE

  Genetic abnormalities in Friedreich's ataxia

• 1999 JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

  Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia

• 1999 ARQUIVOS DE NEURO-PSIQUIATRIA

  Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

• 1998 HUMAN MOLECULAR GENETICS

  Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia

• 2000 NEUROLOGY

  Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene