A case of congenital cataracts, facial dysmorphisms, neuropathy, and hyperkinetic movement disorder.
Identifieur interne : 000B38 ( Main/Exploration ); précédent : 000B37; suivant : 000B39A case of congenital cataracts, facial dysmorphisms, neuropathy, and hyperkinetic movement disorder.
Auteurs : Fiore Manganelli ; Raffaele Dubbioso ; Marcello Esposito ; Caterina Marin ; Chiara Pisciotta ; Salvatore Pignatelli ; Lucio SantoroSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Cataract (congenital), Child, Humans, Hyperkinesis (diagnosis), Hyperkinesis (genetics), Hyperkinesis (physiopathology), Male, Movement Disorders (diagnosis), Movement Disorders (genetics), Movement Disorders (physiopathology), Mutation (genetics), Peripheral Nervous System Diseases (diagnosis), Peripheral Nervous System Diseases (genetics), Peripheral Nervous System Diseases (physiopathology).
- MESH :
- congenital : Cataract.
- diagnosis : Hyperkinesis, Movement Disorders, Peripheral Nervous System Diseases.
- genetics : Hyperkinesis, Movement Disorders, Mutation, Peripheral Nervous System Diseases.
- physiopathology : Hyperkinesis, Movement Disorders, Peripheral Nervous System Diseases.
- Child, Humans, Male.
DOI: 10.1002/mds.25308
PubMed: 23408394
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000A45
- to stream PubMed, to step Curation: 000A45
- to stream PubMed, to step Checkpoint: 000B50
- to stream Ncbi, to step Merge: 003A36
- to stream Ncbi, to step Curation: 003A36
- to stream Ncbi, to step Checkpoint: 003A36
- to stream Main, to step Merge: 000B38
- to stream Main, to step Curation: 000B38
Le document en format XML
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<author><name sortKey="Manganelli, Fiore" sort="Manganelli, Fiore" uniqKey="Manganelli F" first="Fiore" last="Manganelli">Fiore Manganelli</name>
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<author><name sortKey="Dubbioso, Raffaele" sort="Dubbioso, Raffaele" uniqKey="Dubbioso R" first="Raffaele" last="Dubbioso">Raffaele Dubbioso</name>
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<author><name sortKey="Esposito, Marcello" sort="Esposito, Marcello" uniqKey="Esposito M" first="Marcello" last="Esposito">Marcello Esposito</name>
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<author><name sortKey="Marin, Caterina" sort="Marin, Caterina" uniqKey="Marin C" first="Caterina" last="Marin">Caterina Marin</name>
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<author><name sortKey="Pisciotta, Chiara" sort="Pisciotta, Chiara" uniqKey="Pisciotta C" first="Chiara" last="Pisciotta">Chiara Pisciotta</name>
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<author><name sortKey="Pignatelli, Salvatore" sort="Pignatelli, Salvatore" uniqKey="Pignatelli S" first="Salvatore" last="Pignatelli">Salvatore Pignatelli</name>
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<author><name sortKey="Santoro, Lucio" sort="Santoro, Lucio" uniqKey="Santoro L" first="Lucio" last="Santoro">Lucio Santoro</name>
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<author><name sortKey="Dubbioso, Raffaele" sort="Dubbioso, Raffaele" uniqKey="Dubbioso R" first="Raffaele" last="Dubbioso">Raffaele Dubbioso</name>
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<author><name sortKey="Marin, Caterina" sort="Marin, Caterina" uniqKey="Marin C" first="Caterina" last="Marin">Caterina Marin</name>
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<author><name sortKey="Pisciotta, Chiara" sort="Pisciotta, Chiara" uniqKey="Pisciotta C" first="Chiara" last="Pisciotta">Chiara Pisciotta</name>
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<author><name sortKey="Pignatelli, Salvatore" sort="Pignatelli, Salvatore" uniqKey="Pignatelli S" first="Salvatore" last="Pignatelli">Salvatore Pignatelli</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cataract (congenital)</term>
<term>Child</term>
<term>Humans</term>
<term>Hyperkinesis (diagnosis)</term>
<term>Hyperkinesis (genetics)</term>
<term>Hyperkinesis (physiopathology)</term>
<term>Male</term>
<term>Movement Disorders (diagnosis)</term>
<term>Movement Disorders (genetics)</term>
<term>Movement Disorders (physiopathology)</term>
<term>Mutation (genetics)</term>
<term>Peripheral Nervous System Diseases (diagnosis)</term>
<term>Peripheral Nervous System Diseases (genetics)</term>
<term>Peripheral Nervous System Diseases (physiopathology)</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Cataract</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hyperkinesis</term>
<term>Movement Disorders</term>
<term>Peripheral Nervous System Diseases</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hyperkinesis</term>
<term>Movement Disorders</term>
<term>Mutation</term>
<term>Peripheral Nervous System Diseases</term>
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<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Hyperkinesis</term>
<term>Movement Disorders</term>
<term>Peripheral Nervous System Diseases</term>
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<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Humans</term>
<term>Male</term>
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<tree><noCountry><name sortKey="Dubbioso, Raffaele" sort="Dubbioso, Raffaele" uniqKey="Dubbioso R" first="Raffaele" last="Dubbioso">Raffaele Dubbioso</name>
<name sortKey="Esposito, Marcello" sort="Esposito, Marcello" uniqKey="Esposito M" first="Marcello" last="Esposito">Marcello Esposito</name>
<name sortKey="Manganelli, Fiore" sort="Manganelli, Fiore" uniqKey="Manganelli F" first="Fiore" last="Manganelli">Fiore Manganelli</name>
<name sortKey="Marin, Caterina" sort="Marin, Caterina" uniqKey="Marin C" first="Caterina" last="Marin">Caterina Marin</name>
<name sortKey="Pignatelli, Salvatore" sort="Pignatelli, Salvatore" uniqKey="Pignatelli S" first="Salvatore" last="Pignatelli">Salvatore Pignatelli</name>
<name sortKey="Pisciotta, Chiara" sort="Pisciotta, Chiara" uniqKey="Pisciotta C" first="Chiara" last="Pisciotta">Chiara Pisciotta</name>
<name sortKey="Santoro, Lucio" sort="Santoro, Lucio" uniqKey="Santoro L" first="Lucio" last="Santoro">Lucio Santoro</name>
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