1 Ocak 2009 Dergi makalesi Açık Erişim

Pirkevi, C.; Lesage, S.; Condroyer, C.; Tomiyama, H.; Hattori, N.; Ertan, S.; Brice, A.; Basak, A. N.

DataCite XML

<?xml version='1.0' encoding='utf-8'?>
<resource xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns="http://datacite.org/schema/kernel-4" xsi:schemaLocation="http://datacite.org/schema/kernel-4 http://schema.datacite.org/meta/kernel-4.1/metadata.xsd">
  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/40951</identifier>
  <creators>
    <creator>
      <creatorName>Pirkevi, C.</creatorName>
      <givenName>C.</givenName>
      <familyName>Pirkevi</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, Neurodegenerat Res Lab, TR-34342 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Lesage, S.</creatorName>
      <givenName>S.</givenName>
      <familyName>Lesage</familyName>
    </creator>
    <creator>
      <creatorName>Condroyer, C.</creatorName>
      <givenName>C.</givenName>
      <familyName>Condroyer</familyName>
    </creator>
    <creator>
      <creatorName>Tomiyama, H.</creatorName>
      <givenName>H.</givenName>
      <familyName>Tomiyama</familyName>
      <affiliation>Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan</affiliation>
    </creator>
    <creator>
      <creatorName>Hattori, N.</creatorName>
      <givenName>N.</givenName>
      <familyName>Hattori</familyName>
      <affiliation>Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan</affiliation>
    </creator>
    <creator>
      <creatorName>Ertan, S.</creatorName>
      <givenName>S.</givenName>
      <familyName>Ertan</familyName>
      <affiliation>Univ Istanbul, Dept Neurol, Cerrahpasa Fac Med, TR-34098 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Brice, A.</creatorName>
      <givenName>A.</givenName>
      <familyName>Brice</familyName>
    </creator>
    <creator>
      <creatorName>Basak, A. N.</creatorName>
      <givenName>A. N.</givenName>
      <familyName>Basak</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, Neurodegenerat Res Lab, TR-34342 Istanbul, Turkey</affiliation>
    </creator>
  </creators>
  <titles>
    <title>A Lrrk2 G2019S Mutation Carrier From Turkey Shares The Japanese Haplotype</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2009</publicationYear>
  <dates>
    <date dateType="Issued">2009-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/40951</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1007/s10048-009-0173-5</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.</description>
  </descriptions>
</resource>