MovDisordV3, Main, Exploration, bibRecord, 000686

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Identifieur interne : 000686 ( Main/Exploration ); précédent : 000685; suivant : 000687

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Auteurs : Claudia Perandones [Argentine] ; Luis Alejandro Pellene ; Federcio Micheli

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:24339182

English descriptors

KwdEn :
- Female, Humans, Lysosome-Associated Membrane Glycoproteins (genetics), Mutation (genetics), Myoclonic Epilepsies, Progressive (genetics), Myoclonus (genetics), Receptors, Scavenger (genetics), Renal Insufficiency (complications).
MESH :
- chemical , genetics : Lysosome-Associated Membrane Glycoproteins, Receptors, Scavenger.
- complications : Renal Insufficiency.
- genetics : Mutation, Myoclonic Epilepsies, Progressive, Myoclonus.
- Female, Humans.

DOI: 10.1002/mds.25738
PubMed: 24339182

Affiliations:

Argentine

Le document en format XML

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<author><name sortKey="Perandones, Claudia" sort="Perandones, Claudia" uniqKey="Perandones C" first="Claudia" last="Perandones">Claudia Perandones</name>
<affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Argentina.</nlm:affiliation>
<country xml:lang="fr">Argentine</country>
<wicri:regionArea>Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires</wicri:regionArea>
<wicri:noRegion>University of Buenos Aires</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pellene, Luis Alejandro" sort="Pellene, Luis Alejandro" uniqKey="Pellene L" first="Luis Alejandro" last="Pellene">Luis Alejandro Pellene</name>
</author>
<author><name sortKey="Micheli, Federcio" sort="Micheli, Federcio" uniqKey="Micheli F" first="Federcio" last="Micheli">Federcio Micheli</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.</title>
<author><name sortKey="Perandones, Claudia" sort="Perandones, Claudia" uniqKey="Perandones C" first="Claudia" last="Perandones">Claudia Perandones</name>
<affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Argentina.</nlm:affiliation>
<country xml:lang="fr">Argentine</country>
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<author><name sortKey="Pellene, Luis Alejandro" sort="Pellene, Luis Alejandro" uniqKey="Pellene L" first="Luis Alejandro" last="Pellene">Luis Alejandro Pellene</name>
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<author><name sortKey="Micheli, Federcio" sort="Micheli, Federcio" uniqKey="Micheli F" first="Federcio" last="Micheli">Federcio Micheli</name>
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<term>Myoclonic Epilepsies, Progressive (genetics)</term>
<term>Myoclonus (genetics)</term>
<term>Receptors, Scavenger (genetics)</term>
<term>Renal Insufficiency (complications)</term>
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<term>Receptors, Scavenger</term>
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<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Renal Insufficiency</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term>
<term>Myoclonic Epilepsies, Progressive</term>
<term>Myoclonus</term>
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<country name="Argentine"><noRegion><name sortKey="Perandones, Claudia" sort="Perandones, Claudia" uniqKey="Perandones C" first="Claudia" last="Perandones">Claudia Perandones</name>
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Movement Disorders (revue)

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Source :

English descriptors

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

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

	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.