MovDisordV3, Main, Exploration, bibRecord, 000F29

Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family

Identifieur interne : 000F29 ( Main/Exploration ); précédent : 000F28; suivant : 000F30

Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family

Auteurs : Maja Kojovic [Royaume-Uni] ; Una-Marie Sheerin [Royaume-Uni] ; Ignacio Rubio-Agusti [Royaume-Uni] ; Anirban Saha [Royaume-Uni] ; Jose Bras [Royaume-Uni] ; Vaneesha Gibbons [Royaume-Uni] ; Rodger Palmer [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:13-0063593

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Pathologie du système nerveux, Homozygotie, Duplication.

English descriptors

KwdEn :
- Adult, Age of Onset, Aged, Ataxia (diagnosis), Ataxia (genetics), Ataxia (pathology), Child, Duplication, Dystonia (diagnosis), Dystonia (genetics), Dystonia (pathology), Female, Genetic Predisposition to Disease, Homozygosity, Homozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation (genetics), Nerve Fibers, Myelinated (pathology), Nervous system diseases, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (genetics), Parkinsonism, Pedigree, Polymorphism, Single Nucleotide (genetics), Tremor (diagnosis), Tremor (genetics), Tremor (pathology), alpha-Synuclein (genetics).
MESH :
- chemical , genetics : alpha-Synuclein.
- diagnosis : Ataxia, Dystonia, Parkinsonian Disorders, Tremor.
- drug therapy : Parkinsonian Disorders.
- genetics : Ataxia, Dystonia, Mutation, Parkinsonian Disorders, Polymorphism, Single Nucleotide, Tremor.
- pathology : Ataxia, Dystonia, Nerve Fibers, Myelinated, Tremor.
- Adult, Age of Onset, Aged, Child, Female, Genetic Predisposition to Disease, Homozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Pedigree.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4471618

Affiliations:

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Ataxia (diagnosis)</term>
<term>Ataxia (genetics)</term>
<term>Ataxia (pathology)</term>
<term>Child</term>
<term>Duplication</term>
<term>Dystonia (diagnosis)</term>
<term>Dystonia (genetics)</term>
<term>Dystonia (pathology)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Homozygosity</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nerve Fibers, Myelinated (pathology)</term>
<term>Nervous system diseases</term>
<term>Parkinsonian Disorders (diagnosis)</term>
<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonism</term>
<term>Pedigree</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Tremor (diagnosis)</term>
<term>Tremor (genetics)</term>
<term>Tremor (pathology)</term>
<term>alpha-Synuclein (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ataxia</term>
<term>Dystonia</term>
<term>Parkinsonian Disorders</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia</term>
<term>Dystonia</term>
<term>Mutation</term>
<term>Parkinsonian Disorders</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Ataxia</term>
<term>Dystonia</term>
<term>Nerve Fibers, Myelinated</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Child</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term>
<term>Pathologie du   système nerveux</term>
<term>Homozygotie</term>
<term>Duplication</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Kojovic, Maja" sort="Kojovic, Maja" uniqKey="Kojovic M" first="Maja" last="Kojovic">Maja Kojovic</name>
</region>
<name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name>
<name sortKey="Gibbons, Vaneesha" sort="Gibbons, Vaneesha" uniqKey="Gibbons V" first="Vaneesha" last="Gibbons">Vaneesha Gibbons</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<name sortKey="Palmer, Rodger" sort="Palmer, Rodger" uniqKey="Palmer R" first="Rodger" last="Palmer">Rodger Palmer</name>
<name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name>
<name sortKey="Saha, Anirban" sort="Saha, Anirban" uniqKey="Saha A" first="Anirban" last="Saha">Anirban Saha</name>
<name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name>
<name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family

Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family

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	Movement Disorders (revue)
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