A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
Identifieur interne : 003969 ( Ncbi/Checkpoint ); précédent : 003968; suivant : 003970A 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 MatsumotoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
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
Affiliations:
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- to stream Ncbi, to step Curation: 003969
Links to Exploration step
pubmed:23325613Le 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>
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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>
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<author><name sortKey="Miyake, Noriko" sort="Miyake, Noriko" uniqKey="Miyake N" first="Noriko" last="Miyake">Noriko Miyake</name>
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<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>
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<author><name sortKey="Fukai, Ryoko" sort="Fukai, Ryoko" uniqKey="Fukai R" first="Ryoko" last="Fukai">Ryoko Fukai</name>
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<author><name sortKey="Suzuki, Yume" sort="Suzuki, Yume" uniqKey="Suzuki Y" first="Yume" last="Suzuki">Yume Suzuki</name>
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<author><name sortKey="Wakabayashi, Masatoshi" sort="Wakabayashi, Masatoshi" uniqKey="Wakabayashi M" first="Masatoshi" last="Wakabayashi">Masatoshi Wakabayashi</name>
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<author><name sortKey="Miyake, Noriko" sort="Miyake, Noriko" uniqKey="Miyake N" first="Noriko" last="Miyake">Noriko Miyake</name>
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<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>
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<author><name sortKey="Fukai, Ryoko" sort="Fukai, Ryoko" uniqKey="Fukai R" first="Ryoko" last="Fukai">Ryoko Fukai</name>
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<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>
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<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>
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<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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<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>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>
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<term>Pedigree</term>
<term>Receptors, Scavenger (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Lysosome-Associated Membrane Glycoproteins</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term>
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<name sortKey="Fukai, Ryoko" sort="Fukai, Ryoko" uniqKey="Fukai R" first="Ryoko" last="Fukai">Ryoko Fukai</name>
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<name sortKey="Kuroiwa, Yoshiyuki" sort="Kuroiwa, Yoshiyuki" uniqKey="Kuroiwa Y" first="Yoshiyuki" last="Kuroiwa">Yoshiyuki Kuroiwa</name>
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<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>
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