LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
Identifieur interne : 000D32 ( Main/Exploration ); précédent : 000D31; suivant : 000D33LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
Auteurs : Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch ; Mario Ezquerra ; Eduardo Tolosa ; Elena Lorenzo ; Jaione Irigoyen ; Carles Gaig ; María A. Pastor ; Alexandra I. Soto-Ortolaza ; Owen A. Ross ; María C. Rodríguez-Oroz ; Francesc Valldeoriola ; María J. Martí ; María R. Luquin ; Jordi Perez-Tur ; Juan A. Burguera ; José A. Obeso ; Pau PastorSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Arginine, Protein-Serine-Threonine Kinases, Serine.
- genetics : Mutation, Parkinson Disease.
- Adult, Age Factors, Aged, Chromosomes, Human, Pair 12, DNA Mutational Analysis, Family Health, Female, Genetic Linkage, Haplotypes, Humans, Male, Middle Aged.
Abstract
Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families.
DOI: 10.1002/mds.23968
PubMed: 22038903
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.</title><author><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona</wicri:regionArea><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Samaranch, Lluis" sort="Samaranch, Lluis" uniqKey="Samaranch L" first="Lluís" last="Samaranch">Lluís Samaranch</name></author><author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></author><author><name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name></author><author><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name></author><author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name></author><author><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A" last="Pastor">María A. Pastor</name></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></author><author><name sortKey="Rodriguez Oroz, Maria C" sort="Rodriguez Oroz, Maria C" uniqKey="Rodriguez Oroz M" first="María C" last="Rodríguez-Oroz">María C. Rodríguez-Oroz</name></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name></author><author><name sortKey="Marti, Maria J" sort="Marti, Maria J" uniqKey="Marti M" first="María J" last="Martí">María J. Martí</name></author><author><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R" last="Luquin">María R. Luquin</name></author><author><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name></author><author><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A" last="Burguera">Juan A. Burguera</name></author><author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A" last="Obeso">José A. Obeso</name></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.23968</idno><idno type="RBID">pubmed:22038903</idno><idno type="pmid">22038903</idno><idno type="wicri:Area/PubMed/Corpus">000F80</idno><idno type="wicri:Area/PubMed/Curation">000F80</idno><idno type="wicri:Area/PubMed/Checkpoint">000D63</idno><idno type="wicri:Area/Ncbi/Merge">003453</idno><idno type="wicri:Area/Ncbi/Curation">003453</idno><idno type="wicri:Area/Ncbi/Checkpoint">003453</idno><idno type="wicri:Area/Main/Merge">000D55</idno><idno type="wicri:Area/Main/Curation">000D32</idno><idno type="wicri:Area/Main/Exploration">000D32</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.</title><author><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name><affiliation wicri:level="1"><nlm:affiliation>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona</wicri:regionArea><wicri:noRegion>Pamplona</wicri:noRegion></affiliation></author><author><name sortKey="Samaranch, Lluis" sort="Samaranch, Lluis" uniqKey="Samaranch L" first="Lluís" last="Samaranch">Lluís Samaranch</name></author><author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></author><author><name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name></author><author><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name></author><author><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name></author><author><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A" last="Pastor">María A. Pastor</name></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name></author><author><name sortKey="Rodriguez Oroz, Maria C" sort="Rodriguez Oroz, Maria C" uniqKey="Rodriguez Oroz M" first="María C" last="Rodríguez-Oroz">María C. Rodríguez-Oroz</name></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name></author><author><name sortKey="Marti, Maria J" sort="Marti, Maria J" uniqKey="Marti M" first="María J" last="Martí">María J. Martí</name></author><author><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R" last="Luquin">María R. Luquin</name></author><author><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name></author><author><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A" last="Burguera">Juan A. Burguera</name></author><author><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A" last="Obeso">José A. Obeso</name></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</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 Factors</term><term>Aged</term><term>Arginine (genetics)</term><term>Chromosomes, Human, Pair 12</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Linkage</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Serine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>Protein-Serine-Threonine Kinases</term><term>Serine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Chromosomes, Human, Pair 12</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Linkage</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families.</div></front></TEI><affiliations><list><country><li>Espagne</li></country></list><tree><noCountry><name sortKey="Burguera, Juan A" sort="Burguera, Juan A" uniqKey="Burguera J" first="Juan A" last="Burguera">Juan A. Burguera</name><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><name sortKey="Gaig, Carles" sort="Gaig, Carles" uniqKey="Gaig C" first="Carles" last="Gaig">Carles Gaig</name><name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name><name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name><name sortKey="Luquin, Maria R" sort="Luquin, Maria R" uniqKey="Luquin M" first="María R" last="Luquin">María R. Luquin</name><name sortKey="Marti, Maria J" sort="Marti, Maria J" uniqKey="Marti M" first="María J" last="Martí">María J. Martí</name><name sortKey="Obeso, Jose A" sort="Obeso, Jose A" uniqKey="Obeso J" first="José A" last="Obeso">José A. Obeso</name><name sortKey="Pastor, Maria A" sort="Pastor, Maria A" uniqKey="Pastor M" first="María A" last="Pastor">María A. Pastor</name><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name><name sortKey="Rodriguez Oroz, Maria C" sort="Rodriguez Oroz, Maria C" uniqKey="Rodriguez Oroz M" first="María C" last="Rodríguez-Oroz">María C. Rodríguez-Oroz</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name><name sortKey="Samaranch, Lluis" sort="Samaranch, Lluis" uniqKey="Samaranch L" first="Lluís" last="Samaranch">Lluís Samaranch</name><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name></noCountry><country name="Espagne"><noRegion><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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