RELN rare variants in myoclonus-dystonia.
Identifieur interne : 000096 ( Main/Exploration ); précédent : 000095; suivant : 000097RELN rare variants in myoclonus-dystonia.
Auteurs : Justus L. Groen [Pays-Bas] ; Katja Ritz ; Hamid Jalalzadeh ; Sandra M A. Van Der Salm ; Aldo Jongejan ; Olaf R. Mook ; Martin A. Haagmans ; Aeilko H. Zwinderman ; Mahdi M. Motazacker ; Raoul C. Hennekam ; Frank Baas ; Marina A J. TijssenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic symptoms combined with dystonia of the upper part of the body. A proportion of M-D cases are caused by mutations in the epsilon-sarcoglycan gene. In remaining M-D patients, no genetic factor has been established, indicating genetic heterogeneity.
DOI: 10.1002/mds.26070
PubMed: 25648840
Affiliations:
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Groen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name></author><author><name sortKey="Jalalzadeh, Hamid" sort="Jalalzadeh, Hamid" uniqKey="Jalalzadeh H" first="Hamid" last="Jalalzadeh">Hamid Jalalzadeh</name></author><author><name sortKey="Van Der Salm, Sandra M A" sort="Van Der Salm, Sandra M A" uniqKey="Van Der Salm S" first="Sandra M A" last="Van Der Salm">Sandra M A. Van Der Salm</name></author><author><name sortKey="Jongejan, Aldo" sort="Jongejan, Aldo" uniqKey="Jongejan A" first="Aldo" last="Jongejan">Aldo Jongejan</name></author><author><name sortKey="Mook, Olaf R" sort="Mook, Olaf R" uniqKey="Mook O" first="Olaf R" last="Mook">Olaf R. Mook</name></author><author><name sortKey="Haagmans, Martin A" sort="Haagmans, Martin A" uniqKey="Haagmans M" first="Martin A" last="Haagmans">Martin A. Haagmans</name></author><author><name sortKey="Zwinderman, Aeilko H" sort="Zwinderman, Aeilko H" uniqKey="Zwinderman A" first="Aeilko H" last="Zwinderman">Aeilko H. Zwinderman</name></author><author><name sortKey="Motazacker, Mahdi M" sort="Motazacker, Mahdi M" uniqKey="Motazacker M" first="Mahdi M" last="Motazacker">Mahdi M. Motazacker</name></author><author><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C" last="Hennekam">Raoul C. Hennekam</name></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</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="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic symptoms combined with dystonia of the upper part of the body. A proportion of M-D cases are caused by mutations in the epsilon-sarcoglycan gene. In remaining M-D patients, no genetic factor has been established, indicating genetic heterogeneity.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement></list><tree><noCountry><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name><name sortKey="Haagmans, Martin A" sort="Haagmans, Martin A" uniqKey="Haagmans M" first="Martin A" last="Haagmans">Martin A. Haagmans</name><name sortKey="Hennekam, Raoul C" sort="Hennekam, Raoul C" uniqKey="Hennekam R" first="Raoul C" last="Hennekam">Raoul C. Hennekam</name><name sortKey="Jalalzadeh, Hamid" sort="Jalalzadeh, Hamid" uniqKey="Jalalzadeh H" first="Hamid" last="Jalalzadeh">Hamid Jalalzadeh</name><name sortKey="Jongejan, Aldo" sort="Jongejan, Aldo" uniqKey="Jongejan A" first="Aldo" last="Jongejan">Aldo Jongejan</name><name sortKey="Mook, Olaf R" sort="Mook, Olaf R" uniqKey="Mook O" first="Olaf R" last="Mook">Olaf R. Mook</name><name sortKey="Motazacker, Mahdi M" sort="Motazacker, Mahdi M" uniqKey="Motazacker M" first="Mahdi M" last="Motazacker">Mahdi M. Motazacker</name><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name><name sortKey="Van Der Salm, Sandra M A" sort="Van Der Salm, Sandra M A" uniqKey="Van Der Salm S" first="Sandra M A" last="Van Der Salm">Sandra M A. Van Der Salm</name><name sortKey="Zwinderman, Aeilko H" sort="Zwinderman, Aeilko H" uniqKey="Zwinderman A" first="Aeilko H" last="Zwinderman">Aeilko H. Zwinderman</name></noCountry><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L" last="Groen">Justus L. Groen</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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