MovDisordV3, Ncbi, Merge, bibRecord, 003969

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

Identifieur interne : 003969 ( Ncbi/Merge ); précédent : 003968; suivant : 003970

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

Auteurs : Yuichi Higashiyama ; Hiroshi Doi ; Masatoshi Wakabayashi ; Yoshinori Tsurusaki ; Noriko Miyake ; Hirotomo Saitsu ; Chihiro Ohba ; Ryoko Fukai ; Satoko Miyatake ; Hideto Joki ; Shigeru Koyano ; Yume Suzuki ; Fumiaki Tanaka ; Yoshiyuki Kuroiwa ; Naomichi Matsumoto

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.

RBID : pubmed:23325613

English descriptors

KwdEn :
- Age of Onset, Aged, Female, Genetic Predisposition to Disease, Humans, Lysosome-Associated Membrane Glycoproteins (genetics), Male, Middle Aged, Mutation (genetics), Myoclonic Epilepsies, Progressive (diagnosis), Myoclonic Epilepsies, Progressive (genetics), Myoclonus (pathology), Pedigree, Receptors, Scavenger (genetics).
MESH :
- chemical , genetics : Lysosome-Associated Membrane Glycoproteins, Receptors, Scavenger.
- diagnosis : Myoclonic Epilepsies, Progressive.
- genetics : Mutation, Myoclonic Epilepsies, Progressive.
- pathology : Myoclonus.
- Age of Onset, Aged, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Pedigree.

DOI: 10.1002/mds.25296
PubMed: 23325613

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: 000B12
to stream PubMed, to step Curation: 000B12
to stream PubMed, to step Checkpoint: 000B40

Links to Exploration step

pubmed:23325613

Le document en format XML

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<author><name sortKey="Higashiyama, Yuichi" sort="Higashiyama, Yuichi" uniqKey="Higashiyama Y" first="Yuichi" last="Higashiyama">Yuichi Higashiyama</name>
</author>
<author><name sortKey="Doi, Hiroshi" sort="Doi, Hiroshi" uniqKey="Doi H" first="Hiroshi" last="Doi">Hiroshi Doi</name>
</author>
<author><name sortKey="Wakabayashi, Masatoshi" sort="Wakabayashi, Masatoshi" uniqKey="Wakabayashi M" first="Masatoshi" last="Wakabayashi">Masatoshi Wakabayashi</name>
</author>
<author><name sortKey="Tsurusaki, Yoshinori" sort="Tsurusaki, Yoshinori" uniqKey="Tsurusaki Y" first="Yoshinori" last="Tsurusaki">Yoshinori Tsurusaki</name>
</author>
<author><name sortKey="Miyake, Noriko" sort="Miyake, Noriko" uniqKey="Miyake N" first="Noriko" last="Miyake">Noriko Miyake</name>
</author>
<author><name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name>
</author>
<author><name sortKey="Ohba, Chihiro" sort="Ohba, Chihiro" uniqKey="Ohba C" first="Chihiro" last="Ohba">Chihiro Ohba</name>
</author>
<author><name sortKey="Fukai, Ryoko" sort="Fukai, Ryoko" uniqKey="Fukai R" first="Ryoko" last="Fukai">Ryoko Fukai</name>
</author>
<author><name sortKey="Miyatake, Satoko" sort="Miyatake, Satoko" uniqKey="Miyatake S" first="Satoko" last="Miyatake">Satoko Miyatake</name>
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<author><name sortKey="Joki, Hideto" sort="Joki, Hideto" uniqKey="Joki H" first="Hideto" last="Joki">Hideto Joki</name>
</author>
<author><name sortKey="Koyano, Shigeru" sort="Koyano, Shigeru" uniqKey="Koyano S" first="Shigeru" last="Koyano">Shigeru Koyano</name>
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<author><name sortKey="Suzuki, Yume" sort="Suzuki, Yume" uniqKey="Suzuki Y" first="Yume" last="Suzuki">Yume Suzuki</name>
</author>
<author><name sortKey="Tanaka, Fumiaki" sort="Tanaka, Fumiaki" uniqKey="Tanaka F" first="Fumiaki" last="Tanaka">Fumiaki Tanaka</name>
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<author><name sortKey="Kuroiwa, Yoshiyuki" sort="Kuroiwa, Yoshiyuki" uniqKey="Kuroiwa Y" first="Yoshiyuki" last="Kuroiwa">Yoshiyuki Kuroiwa</name>
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<author><name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.</title>
<author><name sortKey="Higashiyama, Yuichi" sort="Higashiyama, Yuichi" uniqKey="Higashiyama Y" first="Yuichi" last="Higashiyama">Yuichi Higashiyama</name>
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<author><name sortKey="Doi, Hiroshi" sort="Doi, Hiroshi" uniqKey="Doi H" first="Hiroshi" last="Doi">Hiroshi Doi</name>
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<author><name sortKey="Wakabayashi, Masatoshi" sort="Wakabayashi, Masatoshi" uniqKey="Wakabayashi M" first="Masatoshi" last="Wakabayashi">Masatoshi Wakabayashi</name>
</author>
<author><name sortKey="Tsurusaki, Yoshinori" sort="Tsurusaki, Yoshinori" uniqKey="Tsurusaki Y" first="Yoshinori" last="Tsurusaki">Yoshinori Tsurusaki</name>
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<author><name sortKey="Miyake, Noriko" sort="Miyake, Noriko" uniqKey="Miyake N" first="Noriko" last="Miyake">Noriko Miyake</name>
</author>
<author><name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name>
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<author><name sortKey="Ohba, Chihiro" sort="Ohba, Chihiro" uniqKey="Ohba C" first="Chihiro" last="Ohba">Chihiro Ohba</name>
</author>
<author><name sortKey="Fukai, Ryoko" sort="Fukai, Ryoko" uniqKey="Fukai R" first="Ryoko" last="Fukai">Ryoko Fukai</name>
</author>
<author><name sortKey="Miyatake, Satoko" sort="Miyatake, Satoko" uniqKey="Miyatake S" first="Satoko" last="Miyatake">Satoko Miyatake</name>
</author>
<author><name sortKey="Joki, Hideto" sort="Joki, Hideto" uniqKey="Joki H" first="Hideto" last="Joki">Hideto Joki</name>
</author>
<author><name sortKey="Koyano, Shigeru" sort="Koyano, Shigeru" uniqKey="Koyano S" first="Shigeru" last="Koyano">Shigeru Koyano</name>
</author>
<author><name sortKey="Suzuki, Yume" sort="Suzuki, Yume" uniqKey="Suzuki Y" first="Yume" last="Suzuki">Yume Suzuki</name>
</author>
<author><name sortKey="Tanaka, Fumiaki" sort="Tanaka, Fumiaki" uniqKey="Tanaka F" first="Fumiaki" last="Tanaka">Fumiaki Tanaka</name>
</author>
<author><name sortKey="Kuroiwa, Yoshiyuki" sort="Kuroiwa, Yoshiyuki" uniqKey="Kuroiwa Y" first="Yoshiyuki" last="Kuroiwa">Yoshiyuki Kuroiwa</name>
</author>
<author><name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2013" type="published">2013</date>
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<term>Aged</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Lysosome-Associated Membrane Glycoproteins (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Myoclonic Epilepsies, Progressive (diagnosis)</term>
<term>Myoclonic Epilepsies, Progressive (genetics)</term>
<term>Myoclonus (pathology)</term>
<term>Pedigree</term>
<term>Receptors, Scavenger (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Lysosome-Associated Membrane Glycoproteins</term>
<term>Receptors, Scavenger</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term>
<term>Myoclonic Epilepsies, Progressive</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term>
<term>Aged</term>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23325613</PMID>
<DateCreated><Year>2013</Year>
<Month>04</Month>
<Day>09</Day>
</DateCreated>
<DateCompleted><Year>2013</Year>
<Month>11</Month>
<Day>27</Day>
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<DateRevised><Year>2014</Year>
<Month>02</Month>
<Day>11</Day>
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<JournalIssue CitedMedium="Internet"><Volume>28</Volume>
<Issue>4</Issue>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.</ArticleTitle>
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<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Doi, Hiroshi" sort="Doi, Hiroshi" uniqKey="Doi H" first="Hiroshi" last="Doi">Hiroshi Doi</name>
<name sortKey="Fukai, Ryoko" sort="Fukai, Ryoko" uniqKey="Fukai R" first="Ryoko" last="Fukai">Ryoko Fukai</name>
<name sortKey="Higashiyama, Yuichi" sort="Higashiyama, Yuichi" uniqKey="Higashiyama Y" first="Yuichi" last="Higashiyama">Yuichi Higashiyama</name>
<name sortKey="Joki, Hideto" sort="Joki, Hideto" uniqKey="Joki H" first="Hideto" last="Joki">Hideto Joki</name>
<name sortKey="Koyano, Shigeru" sort="Koyano, Shigeru" uniqKey="Koyano S" first="Shigeru" last="Koyano">Shigeru Koyano</name>
<name sortKey="Kuroiwa, Yoshiyuki" sort="Kuroiwa, Yoshiyuki" uniqKey="Kuroiwa Y" first="Yoshiyuki" last="Kuroiwa">Yoshiyuki Kuroiwa</name>
<name sortKey="Matsumoto, Naomichi" sort="Matsumoto, Naomichi" uniqKey="Matsumoto N" first="Naomichi" last="Matsumoto">Naomichi Matsumoto</name>
<name sortKey="Miyake, Noriko" sort="Miyake, Noriko" uniqKey="Miyake N" first="Noriko" last="Miyake">Noriko Miyake</name>
<name sortKey="Miyatake, Satoko" sort="Miyatake, Satoko" uniqKey="Miyatake S" first="Satoko" last="Miyatake">Satoko Miyatake</name>
<name sortKey="Ohba, Chihiro" sort="Ohba, Chihiro" uniqKey="Ohba C" first="Chihiro" last="Ohba">Chihiro Ohba</name>
<name sortKey="Saitsu, Hirotomo" sort="Saitsu, Hirotomo" uniqKey="Saitsu H" first="Hirotomo" last="Saitsu">Hirotomo Saitsu</name>
<name sortKey="Suzuki, Yume" sort="Suzuki, Yume" uniqKey="Suzuki Y" first="Yume" last="Suzuki">Yume Suzuki</name>
<name sortKey="Tanaka, Fumiaki" sort="Tanaka, Fumiaki" uniqKey="Tanaka F" first="Fumiaki" last="Tanaka">Fumiaki Tanaka</name>
<name sortKey="Tsurusaki, Yoshinori" sort="Tsurusaki, Yoshinori" uniqKey="Tsurusaki Y" first="Yoshinori" last="Tsurusaki">Yoshinori Tsurusaki</name>
<name sortKey="Wakabayashi, Masatoshi" sort="Wakabayashi, Masatoshi" uniqKey="Wakabayashi M" first="Masatoshi" last="Wakabayashi">Masatoshi Wakabayashi</name>
</noCountry>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

Source :

English descriptors

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki