UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at https://www.ucl.ac.uk/finance/research/rs-contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
PINK1 (PARK6) associated Parkinson disease in Ireland
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Healy DG, Abou-Sleiman PM, Gibson JM, Ross OA, Jain S, Gandhi S, Gosal D, Muqit MMK, Wood NW, Lynch T
  • Publication date:
    2004
  • Pagination:
    1486, 1488
  • Journal:
    Neurology
  • Volume:
    63
  • Issue:
    8
  • Print ISSN:
    0028-3878
  • Keywords:
    2, A, AND, Autosomal Recessive, DISEASE, families, FAMILY, GENE, gene mutation, Histories, history, Ireland, JOURNAL, MUTATION, MUTATIONS, Neurology, OF, Parkinson Disease, PATIENT, patients, PREVALENCE, THE
  • Notes:
    WoS ID: 000224732400028 JournalOCT 26865VNNEUROLOGY
Abstract
Mutations in the PINK1 gene have recently been shown to cause autosomal recessive Parkinson disease (PD). The authors assessed the prevalence of PINK1 gene mutations in 290 well- characterized early- and late-onset PD patients from Ireland. In a 51-year-old PD patient with a family history of PD, the authors identified a novel heterozygous mutation (R147H) in exon 2 of the PINK1 gene. Overall, these data indicate that PINK1 mutations are a rare cause of PD in Ireland
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers
Author
Clinical and Movement Neurosciences
Author
Clinical and Movement Neurosciences
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by