Susceptibility Gènes in Movement Disorders
Identifieur interne : 003687 ( Main/Merge ); précédent : 003686; suivant : 003688Susceptibility Gènes in Movement Disorders
Auteurs : Sonja Scholz [États-Unis, Royaume-Uni] ; Andrew Singleton [États-Unis]Source :
- Movement disorders [ 0885-3185 ] ; 2008.
Descripteurs français
- Pascal (Inist)
English descriptors
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Abstract
During the last years, remarkable progress in our understanding of molecular genetic mechanisms underlying movement disorders has been achieved. The successes of linkage studies, followed by positional cloning, have dominated the last decade and several genes underlying mono-genic disorders have been discovered. The pathobiological understanding garnered from these mutations has laid the foundation for much of the search for genetic loci that confer risk for, rather than cause, disease. With the introduction of whole genome association studies as a novel tool to investigate genetic variation underlying common, complex diseases, a new era in neurogenomics has just begun. As the field rapidly moves forward several new challenges and critical questions in clinical care have to be addressed. In this review, we summarize recent advances in the discovery of susceptibility loci underlying major movement disorders, explain the newest methodologies and tools employed for finding and characterizing genes and discuss how insights into the molecular genetic basis of neurological disorders will impact therapeutic concepts in patient care.
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Pascal:08-0305147Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Susceptibility Gènes in Movement Disorders</title><author><name sortKey="Scholz, Sonja" sort="Scholz, Sonja" uniqKey="Scholz S" first="Sonja" last="Scholz">Sonja Scholz</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0305147</idno><date when="2008">2008</date><idno type="stanalyst">PASCAL 08-0305147 INIST</idno><idno type="RBID">Pascal:08-0305147</idno><idno type="wicri:Area/PascalFrancis/Corpus">001235</idno><idno type="wicri:Area/PascalFrancis/Curation">001A84</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001079</idno><idno type="wicri:doubleKey">0885-3185:2008:Scholz S:susceptibility:genes:in</idno><idno type="wicri:Area/Main/Merge">003687</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Susceptibility Gènes in Movement Disorders</title><author><name sortKey="Scholz, Sonja" sort="Scholz, Sonja" uniqKey="Scholz S" first="Sonja" last="Scholz">Sonja Scholz</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic linkage</term><term>Genome</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term><term>Liaison génétique</term><term>Génome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">During the last years, remarkable progress in our understanding of molecular genetic mechanisms underlying movement disorders has been achieved. The successes of linkage studies, followed by positional cloning, have dominated the last decade and several genes underlying mono-genic disorders have been discovered. The pathobiological understanding garnered from these mutations has laid the foundation for much of the search for genetic loci that confer risk for, rather than cause, disease. With the introduction of whole genome association studies as a novel tool to investigate genetic variation underlying common, complex diseases, a new era in neurogenomics has just begun. As the field rapidly moves forward several new challenges and critical questions in clinical care have to be addressed. In this review, we summarize recent advances in the discovery of susceptibility loci underlying major movement disorders, explain the newest methodologies and tools employed for finding and characterizing genes and discuss how insights into the molecular genetic basis of neurological disorders will impact therapeutic concepts in patient care.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Maryland</li></region><settlement><li>Londres</li></settlement></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Scholz, Sonja" sort="Scholz, Sonja" uniqKey="Scholz S" first="Sonja" last="Scholz">Sonja Scholz</name></region><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Scholz, Sonja" sort="Scholz, Sonja" uniqKey="Scholz S" first="Sonja" last="Scholz">Sonja Scholz</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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