Screening for POLG W748S and A467T mutations in ataxia patients from Spain.
Identifieur interne : 000C24 ( Main/Exploration ); précédent : 000C23; suivant : 000C25Screening for POLG W748S and A467T mutations in ataxia patients from Spain.
Auteurs : Ana L. Pelayo-Negro ; Coro Sánchez-Quintana ; Maria C. Rodríguez-Oroz ; Victor Volpini ; Massimo Zeviani ; Miguel A. Tola-Arribas ; José Berciano ; Jon InfanteSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
Descripteurs français
- Wicri :
- geographic : Espagne.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Alanine (genetics), Ataxia (epidemiology), Ataxia (genetics), DNA-Directed DNA Polymerase (genetics), Female, Gene Frequency, Genetic Predisposition to Disease (genetics), Genetic Testing (methods), Genotype, Humans, Male, Middle Aged, Mutation (genetics), Polymorphism, Single Nucleotide (genetics), Serine (genetics), Spain (epidemiology), Threonine (genetics), Tryptophan (genetics), Young Adult.
- MESH :
- chemical , genetics : Alanine, DNA-Directed DNA Polymerase, Serine, Threonine, Tryptophan.
- geographic , epidemiology : Spain.
- epidemiology : Ataxia.
- genetics : Ataxia, Genetic Predisposition to Disease, Mutation, Polymorphism, Single Nucleotide.
- methods : Genetic Testing.
- Adult, Age of Onset, Aged, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Young Adult.
DOI: 10.1002/mds.25085
PubMed: 22711370
Affiliations:
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Le document en format XML
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Rodríguez-Oroz</name></author><author><name sortKey="Volpini, Victor" sort="Volpini, Victor" uniqKey="Volpini V" first="Victor" last="Volpini">Victor Volpini</name></author><author><name sortKey="Zeviani, Massimo" sort="Zeviani, Massimo" uniqKey="Zeviani M" first="Massimo" last="Zeviani">Massimo Zeviani</name></author><author><name sortKey="Tola Arribas, Miguel A" sort="Tola Arribas, Miguel A" uniqKey="Tola Arribas M" first="Miguel A" last="Tola-Arribas">Miguel A. Tola-Arribas</name></author><author><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name></author><author><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25085</idno><idno type="RBID">pubmed:22711370</idno><idno type="pmid">22711370</idno><idno type="wicri:Area/PubMed/Corpus">000D36</idno><idno type="wicri:Area/PubMed/Curation">000D36</idno><idno type="wicri:Area/PubMed/Checkpoint">000C40</idno><idno type="wicri:Area/Ncbi/Merge">003710</idno><idno type="wicri:Area/Ncbi/Curation">003710</idno><idno type="wicri:Area/Ncbi/Checkpoint">003710</idno><idno type="wicri:Area/Main/Merge">000C33</idno><idno type="wicri:Area/Main/Curation">000C24</idno><idno type="wicri:Area/Main/Exploration">000C24</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Screening for POLG W748S and A467T mutations in ataxia patients from Spain.</title><author><name sortKey="Pelayo Negro, Ana L" sort="Pelayo Negro, Ana L" uniqKey="Pelayo Negro A" first="Ana L" last="Pelayo-Negro">Ana L. Pelayo-Negro</name></author><author><name sortKey="Sanchez Quintana, Coro" sort="Sanchez Quintana, Coro" uniqKey="Sanchez Quintana C" first="Coro" last="Sánchez-Quintana">Coro Sánchez-Quintana</name></author><author><name sortKey="Rodriguez Oroz, Maria C" sort="Rodriguez Oroz, Maria C" uniqKey="Rodriguez Oroz M" first="Maria C" last="Rodríguez-Oroz">Maria C. Rodríguez-Oroz</name></author><author><name sortKey="Volpini, Victor" sort="Volpini, Victor" uniqKey="Volpini V" first="Victor" last="Volpini">Victor Volpini</name></author><author><name sortKey="Zeviani, Massimo" sort="Zeviani, Massimo" uniqKey="Zeviani M" first="Massimo" last="Zeviani">Massimo Zeviani</name></author><author><name sortKey="Tola Arribas, Miguel A" sort="Tola Arribas, Miguel A" uniqKey="Tola Arribas M" first="Miguel A" last="Tola-Arribas">Miguel A. Tola-Arribas</name></author><author><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name></author><author><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Alanine (genetics)</term><term>Ataxia (epidemiology)</term><term>Ataxia (genetics)</term><term>DNA-Directed DNA Polymerase (genetics)</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing (methods)</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Serine (genetics)</term><term>Spain (epidemiology)</term><term>Threonine (genetics)</term><term>Tryptophan (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Alanine</term><term>DNA-Directed DNA Polymerase</term><term>Serine</term><term>Threonine</term><term>Tryptophan</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Spain</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Ataxia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term><term>Genetic Predisposition to Disease</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Espagne</term></keywords></textClass></profileDesc></teiHeader></TEI><affiliations><list></list><tree><noCountry><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name><name sortKey="Pelayo Negro, Ana L" sort="Pelayo Negro, Ana L" uniqKey="Pelayo Negro A" first="Ana L" last="Pelayo-Negro">Ana L. Pelayo-Negro</name><name sortKey="Rodriguez Oroz, Maria C" sort="Rodriguez Oroz, Maria C" uniqKey="Rodriguez Oroz M" first="Maria C" last="Rodríguez-Oroz">Maria C. Rodríguez-Oroz</name><name sortKey="Sanchez Quintana, Coro" sort="Sanchez Quintana, Coro" uniqKey="Sanchez Quintana C" first="Coro" last="Sánchez-Quintana">Coro Sánchez-Quintana</name><name sortKey="Tola Arribas, Miguel A" sort="Tola Arribas, Miguel A" uniqKey="Tola Arribas M" first="Miguel A" last="Tola-Arribas">Miguel A. Tola-Arribas</name><name sortKey="Volpini, Victor" sort="Volpini, Victor" uniqKey="Volpini V" first="Victor" last="Volpini">Victor Volpini</name><name sortKey="Zeviani, Massimo" sort="Zeviani, Massimo" uniqKey="Zeviani M" first="Massimo" last="Zeviani">Massimo Zeviani</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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