A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
Identifieur interne : 000B28 ( Main/Curation ); précédent : 000B27; suivant : 000B29A 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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000B12
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :000B12
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000B40
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :003969
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :003969
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :003969
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :000B28
Links to Exploration step
pubmed:23325613Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><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></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></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></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25296</idno><idno type="RBID">pubmed:23325613</idno><idno type="pmid">23325613</idno><idno type="wicri:Area/PubMed/Corpus">000B12</idno><idno type="wicri:Area/PubMed/Curation">000B12</idno><idno type="wicri:Area/PubMed/Checkpoint">000B40</idno><idno type="wicri:Area/Ncbi/Merge">003969</idno><idno type="wicri:Area/Ncbi/Curation">003969</idno><idno type="wicri:Area/Ncbi/Checkpoint">003969</idno><idno type="wicri:Area/Main/Merge">000B28</idno><idno type="wicri:Area/Main/Curation">000B28</idno></publicationStmt><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></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></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></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="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term><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><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000B28 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 000B28 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Curation
|type= RBID
|clé= pubmed:23325613
|texte= A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Curation/RBID.i -Sk "pubmed:23325613" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |