The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia
Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia. Methods: In this study, 1,446 Caucasian subjects with mainly adult‐onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5′‐untranslated region of THAP1...
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| Veröffentlicht in: | Movement disorders 2011-02, Vol.26 (3), p.549-553 |
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| creator | Xiao, Jianfeng Zhao, Yu Bastian, Robert W. Perlmutter, Joel S. Racette, Brad A. Tabbal, Samer D. Karimi, Morvarid Paniello, Randal C. Wszolek, Zbigniew K. Uitti, Ryan J. Van Gerpen, Jay A. Simon, David K. Tarsy, Daniel Hedera, Peter Truong, Daniel D. Frei, Karen P. Blitzer, Andrew Rudzińska, Monika Pfeiffer, Ronald F. Le, Carrie LeDoux, Mark S. |
| description | Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia.
Methods: In this study, 1,446 Caucasian subjects with mainly adult‐onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5′‐untranslated region of THAP1 (c.‐237_236GA>TT).
Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein.
Discussion: Our findings indicate that the c.‐237_236GA>TT THAP1 sequence variant does not increase risk for adult‐onset primary dystonia in Caucasians. © 2011 Movement Disorder Society |
| doi_str_mv | 10.1002/mds.23551 |
| format | Article |
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Methods: In this study, 1,446 Caucasian subjects with mainly adult‐onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5′‐untranslated region of THAP1 (c.‐237_236GA>TT).
Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein.
Discussion: Our findings indicate that the c.‐237_236GA>TT THAP1 sequence variant does not increase risk for adult‐onset primary dystonia in Caucasians. © 2011 Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.23551</identifier><identifier>PMID: 21370264</identifier><identifier>CODEN: MOVDEA</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Apoptosis Regulatory Proteins - genetics ; Base Sequence ; Biological and medical sciences ; Child ; Diseases of striated muscles. Neuromuscular diseases ; DNA-Binding Proteins - genetics ; dystonia ; Dystonic Disorders - etiology ; Dystonic Disorders - genetics ; DYT6 ; European Continental Ancestry Group - genetics ; Female ; Gene Frequency ; Genotype ; high-resolution melting ; Humans ; Male ; Medical sciences ; Middle Aged ; Movement disorders ; Mutation - genetics ; Neurology ; Nuclear Proteins - genetics ; THAP1 ; untranslated region ; Untranslated Regions - genetics ; Young Adult</subject><ispartof>Movement disorders, 2011-02, Vol.26 (3), p.549-553</ispartof><rights>Copyright © 2011 Movement Disorder Society</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2011 Movement Disorder Society.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5431-463b20be905fc025eaa67a2211a40e73b8ae6930af73ca1e29d68479d675c2b83</citedby><cites>FETCH-LOGICAL-c5431-463b20be905fc025eaa67a2211a40e73b8ae6930af73ca1e29d68479d675c2b83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmds.23551$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmds.23551$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,780,784,885,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24084891$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21370264$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Xiao, Jianfeng</creatorcontrib><creatorcontrib>Zhao, Yu</creatorcontrib><creatorcontrib>Bastian, Robert W.</creatorcontrib><creatorcontrib>Perlmutter, Joel S.</creatorcontrib><creatorcontrib>Racette, Brad A.</creatorcontrib><creatorcontrib>Tabbal, Samer D.</creatorcontrib><creatorcontrib>Karimi, Morvarid</creatorcontrib><creatorcontrib>Paniello, Randal C.</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K.</creatorcontrib><creatorcontrib>Uitti, Ryan J.</creatorcontrib><creatorcontrib>Van Gerpen, Jay A.</creatorcontrib><creatorcontrib>Simon, David K.</creatorcontrib><creatorcontrib>Tarsy, Daniel</creatorcontrib><creatorcontrib>Hedera, Peter</creatorcontrib><creatorcontrib>Truong, Daniel D.</creatorcontrib><creatorcontrib>Frei, Karen P.</creatorcontrib><creatorcontrib>Blitzer, Andrew</creatorcontrib><creatorcontrib>Rudzińska, Monika</creatorcontrib><creatorcontrib>Pfeiffer, Ronald F.</creatorcontrib><creatorcontrib>Le, Carrie</creatorcontrib><creatorcontrib>LeDoux, Mark S.</creatorcontrib><title>The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia</title><title>Movement disorders</title><addtitle>Mov. Disord</addtitle><description>Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia.
Methods: In this study, 1,446 Caucasian subjects with mainly adult‐onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5′‐untranslated region of THAP1 (c.‐237_236GA>TT).
Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein.
Discussion: Our findings indicate that the c.‐237_236GA>TT THAP1 sequence variant does not increase risk for adult‐onset primary dystonia in Caucasians. © 2011 Movement Disorder Society</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Apoptosis Regulatory Proteins - genetics</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA-Binding Proteins - genetics</subject><subject>dystonia</subject><subject>Dystonic Disorders - etiology</subject><subject>Dystonic Disorders - genetics</subject><subject>DYT6</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genotype</subject><subject>high-resolution melting</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Movement disorders</subject><subject>Mutation - genetics</subject><subject>Neurology</subject><subject>Nuclear Proteins - genetics</subject><subject>THAP1</subject><subject>untranslated region</subject><subject>Untranslated Regions - genetics</subject><subject>Young Adult</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUtv1DAUhS0EokNhwR9AlhACFpn6ET-yqTTqYwqUh0QoUjeW4zjUbcYudqYw_x6HmQ4PCTb2wt899xwfAB5jNMUIkb1Fm6aEMobvgAlmFBeSMHEXTJCUrKBYsh3wIKVLhDBmmN8HOwRTgQgvJ-CsvrDQTAtChSKUz2f7dQ3rk9kHDJP9urTeWHijo9N-gG2wCfowQOdNtDpZGF26gl2I8Dq6hY4r2K7SELzTD8G9TvfJPtrcu-DT8VF9cFKcvp-_OpidFoaV2WfJaUNQYyvEOoMIs1pzoQnBWJfICtpIbXlFke4ENRpbUrVcliKfghnSSLoL9te618tmYVtj_RB1rzZ2VNBO_fni3YX6Em4UxQJXkmeB5xuBGHLcNKiFS8b2vfY2LJOSHOGMcZTJF_8lsawEFSVmo6unf6GXYRl9_oiRQhUjFR9Xv1xTJoaUou22tjFSY68q96p-9prZJ7_n3JK3RWbg2QbQyei-i9obl35xJZKlrEahvTX3zfV29e-N6u3hx9vVxXrCpcF-307oeKV4DszU53dzhc5eH78p5-fqnP4AcODF1A</recordid><startdate>20110215</startdate><enddate>20110215</enddate><creator>Xiao, Jianfeng</creator><creator>Zhao, Yu</creator><creator>Bastian, Robert W.</creator><creator>Perlmutter, Joel S.</creator><creator>Racette, Brad A.</creator><creator>Tabbal, Samer D.</creator><creator>Karimi, Morvarid</creator><creator>Paniello, Randal C.</creator><creator>Wszolek, Zbigniew K.</creator><creator>Uitti, Ryan J.</creator><creator>Van Gerpen, Jay A.</creator><creator>Simon, David K.</creator><creator>Tarsy, Daniel</creator><creator>Hedera, Peter</creator><creator>Truong, Daniel D.</creator><creator>Frei, Karen P.</creator><creator>Blitzer, Andrew</creator><creator>Rudzińska, Monika</creator><creator>Pfeiffer, Ronald F.</creator><creator>Le, Carrie</creator><creator>LeDoux, Mark S.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20110215</creationdate><title>The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia</title><author>Xiao, Jianfeng ; Zhao, Yu ; Bastian, Robert W. ; Perlmutter, Joel S. ; Racette, Brad A. ; Tabbal, Samer D. ; Karimi, Morvarid ; Paniello, Randal C. ; Wszolek, Zbigniew K. ; Uitti, Ryan J. ; Van Gerpen, Jay A. ; Simon, David K. ; Tarsy, Daniel ; Hedera, Peter ; Truong, Daniel D. ; Frei, Karen P. ; Blitzer, Andrew ; Rudzińska, Monika ; Pfeiffer, Ronald F. ; Le, Carrie ; LeDoux, Mark S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5431-463b20be905fc025eaa67a2211a40e73b8ae6930af73ca1e29d68479d675c2b83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Apoptosis Regulatory Proteins - genetics</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>DNA-Binding Proteins - genetics</topic><topic>dystonia</topic><topic>Dystonic Disorders - etiology</topic><topic>Dystonic Disorders - genetics</topic><topic>DYT6</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genotype</topic><topic>high-resolution melting</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Movement disorders</topic><topic>Mutation - genetics</topic><topic>Neurology</topic><topic>Nuclear Proteins - genetics</topic><topic>THAP1</topic><topic>untranslated region</topic><topic>Untranslated Regions - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Xiao, Jianfeng</creatorcontrib><creatorcontrib>Zhao, Yu</creatorcontrib><creatorcontrib>Bastian, Robert W.</creatorcontrib><creatorcontrib>Perlmutter, Joel S.</creatorcontrib><creatorcontrib>Racette, Brad A.</creatorcontrib><creatorcontrib>Tabbal, Samer D.</creatorcontrib><creatorcontrib>Karimi, Morvarid</creatorcontrib><creatorcontrib>Paniello, Randal C.</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K.</creatorcontrib><creatorcontrib>Uitti, Ryan J.</creatorcontrib><creatorcontrib>Van Gerpen, Jay A.</creatorcontrib><creatorcontrib>Simon, David K.</creatorcontrib><creatorcontrib>Tarsy, Daniel</creatorcontrib><creatorcontrib>Hedera, Peter</creatorcontrib><creatorcontrib>Truong, Daniel D.</creatorcontrib><creatorcontrib>Frei, Karen P.</creatorcontrib><creatorcontrib>Blitzer, Andrew</creatorcontrib><creatorcontrib>Rudzińska, Monika</creatorcontrib><creatorcontrib>Pfeiffer, Ronald F.</creatorcontrib><creatorcontrib>Le, Carrie</creatorcontrib><creatorcontrib>LeDoux, Mark S.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Xiao, Jianfeng</au><au>Zhao, Yu</au><au>Bastian, Robert W.</au><au>Perlmutter, Joel S.</au><au>Racette, Brad A.</au><au>Tabbal, Samer D.</au><au>Karimi, Morvarid</au><au>Paniello, Randal C.</au><au>Wszolek, Zbigniew K.</au><au>Uitti, Ryan J.</au><au>Van Gerpen, Jay A.</au><au>Simon, David K.</au><au>Tarsy, Daniel</au><au>Hedera, Peter</au><au>Truong, Daniel D.</au><au>Frei, Karen P.</au><au>Blitzer, Andrew</au><au>Rudzińska, Monika</au><au>Pfeiffer, Ronald F.</au><au>Le, Carrie</au><au>LeDoux, Mark S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov. Disord</addtitle><date>2011-02-15</date><risdate>2011</risdate><volume>26</volume><issue>3</issue><spage>549</spage><epage>553</epage><pages>549-553</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><coden>MOVDEA</coden><abstract>Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia.
Methods: In this study, 1,446 Caucasian subjects with mainly adult‐onset primary dystonia and 1,520 controls were genotyped for a variant located in the 5′‐untranslated region of THAP1 (c.‐237_236GA>TT).
Results: Minor allele frequencies were 62/2892 (2.14%) and 55/3040 (1.81%) in subjects with dystonia and controls, respectively (P=0.202). Subgroup analyses by gender and anatomical distribution also failed to attain statistical significance. In addition, there was no effect of the TT variant on expression levels of THAP1 transcript or protein.
Discussion: Our findings indicate that the c.‐237_236GA>TT THAP1 sequence variant does not increase risk for adult‐onset primary dystonia in Caucasians. © 2011 Movement Disorder Society</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>21370264</pmid><doi>10.1002/mds.23551</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Apoptosis Regulatory Proteins - genetics Base Sequence Biological and medical sciences Child Diseases of striated muscles. Neuromuscular diseases DNA-Binding Proteins - genetics dystonia Dystonic Disorders - etiology Dystonic Disorders - genetics DYT6 European Continental Ancestry Group - genetics Female Gene Frequency Genotype high-resolution melting Humans Male Medical sciences Middle Aged Movement disorders Mutation - genetics Neurology Nuclear Proteins - genetics THAP1 untranslated region Untranslated Regions - genetics Young Adult |
| title | The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia |
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