A Elia

Summary

Affiliation: Catholic University
Country: Italy

Publications

  1. ncbi Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families
    A R Bentivoglio
    Istituto di Neurologia, Universita Cattolica, Roma, Italy
    Mov Disord 16:999-1006. 2001
  2. ncbi Phenotypic characterization of DYT13 primary torsion dystonia
    Anna Rita Bentivoglio
    Istituto di Neurologia, Universita Cattolica, Rome, Italy
    Mov Disord 19:200-6. 2004
  3. ncbi Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation
    R Hakem
    Amgen Institute, Toronto, Ontario, Canada
    Nat Genet 16:298-302. 1997
  4. ncbi Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
    M Feldman
    The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Clin Genet 69:135-44. 2006

Collaborators

  • A Albanese
  • C C Deltas
  • M Feldman
  • Anna Rita Bentivoglio
  • A R Bentivoglio
  • Y Athanasiou
  • M Prikis
  • A Pierides
  • R Hakem
  • Enza M Valente
  • M Fiorella Contarino
  • Tamara Ialongo
  • P Montagna
  • A Ferraris
  • T Ialongo
  • E M Valente
  • P Cortelli
  • T W Mak
  • J L de la Pompa
  • J Potter

Detail Information

Publications4

  1. ncbi Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families
    A R Bentivoglio
    Istituto di Neurologia, Universita Cattolica, Roma, Italy
    Mov Disord 16:999-1006. 2001
    ..Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features...
  2. ncbi Phenotypic characterization of DYT13 primary torsion dystonia
    Anna Rita Bentivoglio
    Istituto di Neurologia, Universita Cattolica, Rome, Italy
    Mov Disord 19:200-6. 2004
    ..Moreover, the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. To date, this is the only family with DYT13-PTD...
  3. ncbi Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation
    R Hakem
    Amgen Institute, Toronto, Ontario, Canada
    Nat Genet 16:298-302. 1997
    ..5. The fact that mutation of neither p53 nor p21 completely rescued Brca1 (5-6) embryos suggests that their lethality is likely due to a multi-factorial process...
  4. ncbi Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
    M Feldman
    The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Clin Genet 69:135-44. 2006
    ..The identification of responsible mutations facilitates antenatal or postnatal diagnosis in concerned families and improves the prognosis...