MovDisordV3, Main, Exploration, bibRecord, 002114

Pseudo‐orthostatic and resting leg tremor in a large spanish family with homozygous truncating parkin mutation

Identifieur interne : 002114 ( Main/Exploration ); précédent : 002113; suivant : 002115

Pseudo‐orthostatic and resting leg tremor in a large spanish family with homozygous truncating parkin mutation

Auteurs : Jon Infante [Espagne] ; José Berciano [Espagne] ; Pascual Sánchez-Juan [Espagne] ; Antonio García [Espagne] ; Alessio Di Fonzo [Pays-Bas] ; Guido Breedveld [Pays-Bas] ; Ben Oostra [Pays-Bas] ; Vincenzo Bonifati [Pays-Bas]

Source :

Movement Disorders [ 0885-3185 ] ; 2009-01-15.

RBID : ISTEX:72DF554C356FB79A7EE710A7E57C7FA13AB87B2E

Descripteurs français

Wicri :
- geographic : Espagne.

English descriptors

KwdEn :
- Adult, Age of Onset, Antiparkinson Agents (therapeutic use), Codon, Nonsense, Consanguinity, DNA Mutational Analysis, Exons (genetics), Female, Genotype, Humans, Levodopa (therapeutic use), Male, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (genetics), Pedigree, Spain (epidemiology), Tremor (drug therapy), Tremor (epidemiology), Tremor (genetics), Ubiquitin-Protein Ligases (genetics), Ubiquitin-Protein Ligases (physiology).
MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical , physiology : Ubiquitin-Protein Ligases.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- geographic , epidemiology : Spain.
- drug therapy : Parkinsonian Disorders, Tremor.
- epidemiology : Parkinsonian Disorders, Tremor.
- genetics : Exons, Parkinsonian Disorders, Tremor.
- Adult, Age of Onset, Codon, Nonsense, Consanguinity, DNA Mutational Analysis, Female, Genotype, Humans, Male, Pedigree.

Url:

https://api.istex.fr/document/72DF554C356FB79A7EE710A7E57C7FA13AB87B2E/fulltext/pdf

DOI: 10.1002/mds.22349

Affiliations:

Le document en format XML

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<author><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name>
</author>
<author><name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name>
</author>
<author><name sortKey="Sanchez Uan, Pascual" sort="Sanchez Uan, Pascual" uniqKey="Sanchez Uan P" first="Pascual" last="Sánchez-Juan">Pascual Sánchez-Juan</name>
</author>
<author><name sortKey="Garcia, Antonio" sort="Garcia, Antonio" uniqKey="Garcia A" first="Antonio" last="García">Antonio García</name>
</author>
<author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name>
</author>
<author><name sortKey="Breedveld, Guido" sort="Breedveld, Guido" uniqKey="Breedveld G" first="Guido" last="Breedveld">Guido Breedveld</name>
</author>
<author><name sortKey="Oostra, Ben" sort="Oostra, Ben" uniqKey="Oostra B" first="Ben" last="Oostra">Ben Oostra</name>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
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<author><name sortKey="Sanchez Uan, Pascual" sort="Sanchez Uan, Pascual" uniqKey="Sanchez Uan P" first="Pascual" last="Sánchez-Juan">Pascual Sánchez-Juan</name>
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<author><name sortKey="Garcia, Antonio" sort="Garcia, Antonio" uniqKey="Garcia A" first="Antonio" last="García">Antonio García</name>
<affiliation wicri:level="1"><country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Neurophysiology, Service of Neurophysiology, University Hospital, “Marqués de Valdecilla”, Santander</wicri:regionArea>
<wicri:noRegion>Santander</wicri:noRegion>
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<author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name>
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<placeName><settlement type="city">Rotterdam</settlement>
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<author><name sortKey="Breedveld, Guido" sort="Breedveld, Guido" uniqKey="Breedveld G" first="Guido" last="Breedveld">Guido Breedveld</name>
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<author><name sortKey="Oostra, Ben" sort="Oostra, Ben" uniqKey="Oostra B" first="Ben" last="Oostra">Ben Oostra</name>
<affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
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<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
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<term>Age of Onset</term>
<term>Antiparkinson Agents (therapeutic use)</term>
<term>Codon, Nonsense</term>
<term>Consanguinity</term>
<term>DNA Mutational Analysis</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (epidemiology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Pedigree</term>
<term>Spain (epidemiology)</term>
<term>Tremor (drug therapy)</term>
<term>Tremor (epidemiology)</term>
<term>Tremor (genetics)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>Ubiquitin-Protein Ligases (physiology)</term>
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<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
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<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term>
<term>Tremor</term>
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<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinsonian Disorders</term>
<term>Tremor</term>
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<term>Parkinsonian Disorders</term>
<term>Tremor</term>
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<term>Age of Onset</term>
<term>Codon, Nonsense</term>
<term>Consanguinity</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
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<tree><country name="Espagne"><noRegion><name sortKey="Infante, Jon" sort="Infante, Jon" uniqKey="Infante J" first="Jon" last="Infante">Jon Infante</name>
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<name sortKey="Berciano, Jose" sort="Berciano, Jose" uniqKey="Berciano J" first="José" last="Berciano">José Berciano</name>
<name sortKey="Garcia, Antonio" sort="Garcia, Antonio" uniqKey="Garcia A" first="Antonio" last="García">Antonio García</name>
<name sortKey="Sanchez Uan, Pascual" sort="Sanchez Uan, Pascual" uniqKey="Sanchez Uan P" first="Pascual" last="Sánchez-Juan">Pascual Sánchez-Juan</name>
</country>
<country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name>
</region>
<name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<name sortKey="Breedveld, Guido" sort="Breedveld, Guido" uniqKey="Breedveld G" first="Guido" last="Breedveld">Guido Breedveld</name>
<name sortKey="Oostra, Ben" sort="Oostra, Ben" uniqKey="Oostra B" first="Ben" last="Oostra">Ben Oostra</name>
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Movement Disorders (revue)

Pseudo‐orthostatic and resting leg tremor in a large spanish family with homozygous truncating parkin mutation

Pseudo‐orthostatic and resting leg tremor in a large spanish family with homozygous truncating parkin mutation

Source :

Descripteurs français

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

	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.