Generalized dystonia in a patient with a novel mutation in the GLUD1 gene.
Identifieur interne : 000D80 ( Main/Exploration ); précédent : 000D79; suivant : 000D81Generalized dystonia in a patient with a novel mutation in the GLUD1 gene.
Auteurs : Ryosuke Miyamoto ; Satoshi Goto ; Wataru Sako ; Ai Miyashiro ; Isabelle Kim ; Fabienne Escande ; Masafumi Harada ; Ryoma Morigaki ; Kotaro Asanuma ; Yoshifumi Mizobuchi ; Shinji Nagahiro ; Yuishin Izumi ; Ryuji KajiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adolescent, Deep Brain Stimulation, Dystonic Disorders (genetics), Dystonic Disorders (therapy), Electroencephalography, Epilepsy, Tonic-Clonic (etiology), Epilepsy, Tonic-Clonic (genetics), Female, Glutamate Dehydrogenase (genetics), Humans, Hyperinsulinism (genetics), Mutation, Polymerase Chain Reaction.
- MESH :
- chemical , genetics : Glutamate Dehydrogenase.
- etiology : Epilepsy, Tonic-Clonic.
- genetics : Dystonic Disorders, Epilepsy, Tonic-Clonic, Hyperinsulinism.
- therapy : Dystonic Disorders.
- Adolescent, Deep Brain Stimulation, Electroencephalography, Female, Humans, Mutation, Polymerase Chain Reaction.
DOI: 10.1002/mds.25081
PubMed: 22730017
Affiliations:
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Le document en format XML
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sortKey="Harada, Masafumi" sort="Harada, Masafumi" uniqKey="Harada M" first="Masafumi" last="Harada">Masafumi Harada</name></author><author><name sortKey="Morigaki, Ryoma" sort="Morigaki, Ryoma" uniqKey="Morigaki R" first="Ryoma" last="Morigaki">Ryoma Morigaki</name></author><author><name sortKey="Asanuma, Kotaro" sort="Asanuma, Kotaro" uniqKey="Asanuma K" first="Kotaro" last="Asanuma">Kotaro Asanuma</name></author><author><name sortKey="Mizobuchi, Yoshifumi" sort="Mizobuchi, Yoshifumi" uniqKey="Mizobuchi Y" first="Yoshifumi" last="Mizobuchi">Yoshifumi Mizobuchi</name></author><author><name sortKey="Nagahiro, Shinji" sort="Nagahiro, Shinji" uniqKey="Nagahiro S" first="Shinji" last="Nagahiro">Shinji Nagahiro</name></author><author><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name></author><author><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji 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Miyamoto</name></author><author><name sortKey="Goto, Satoshi" sort="Goto, Satoshi" uniqKey="Goto S" first="Satoshi" last="Goto">Satoshi Goto</name></author><author><name sortKey="Sako, Wataru" sort="Sako, Wataru" uniqKey="Sako W" first="Wataru" last="Sako">Wataru Sako</name></author><author><name sortKey="Miyashiro, Ai" sort="Miyashiro, Ai" uniqKey="Miyashiro A" first="Ai" last="Miyashiro">Ai Miyashiro</name></author><author><name sortKey="Kim, Isabelle" sort="Kim, Isabelle" uniqKey="Kim I" first="Isabelle" last="Kim">Isabelle Kim</name></author><author><name sortKey="Escande, Fabienne" sort="Escande, Fabienne" uniqKey="Escande F" first="Fabienne" last="Escande">Fabienne Escande</name></author><author><name sortKey="Harada, Masafumi" sort="Harada, Masafumi" uniqKey="Harada M" first="Masafumi" last="Harada">Masafumi Harada</name></author><author><name sortKey="Morigaki, Ryoma" sort="Morigaki, Ryoma" uniqKey="Morigaki R" first="Ryoma" last="Morigaki">Ryoma 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Nagahiro</name><name sortKey="Sako, Wataru" sort="Sako, Wataru" uniqKey="Sako W" first="Wataru" last="Sako">Wataru Sako</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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