MovDisordV3, Ncbi, Checkpoint, bibRecord, 003919

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

Identifieur interne : 003919 ( Ncbi/Checkpoint ); précédent : 003918; suivant : 003920

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 ; 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 : PMC:4471618

English descriptors

KwdEn :
- Ataxia (diagnosis), Ataxia (genetics), Ataxia (pathology), Child, Dystonia (diagnosis), Dystonia (genetics), Dystonia (pathology), Genetic Predisposition to Disease, Humans, Magnetic Resonance Imaging, Male, Mutation (genetics), Nerve Fibers, Myelinated (pathology), Tremor (diagnosis), Tremor (genetics), Tremor (pathology).
MESH :
- diagnosis : Ataxia, Dystonia, Tremor.
- genetics : Ataxia, Dystonia, Mutation, Tremor.
- pathology : Ataxia, Dystonia, Nerve Fibers, Myelinated, Tremor.
- Child, Genetic Predisposition to Disease, Humans, Magnetic Resonance Imaging, Male.

Url:

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

DOI: 10.1002/mds.25199
PubMed: 23208740
PubMed Central: 4471618

Affiliations:

Royaume-Uni

Links to Exploration step

PMC:4471618

Le document en format XML

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<addr-line>London, United Kingdom</addr-line>
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<author><name sortKey="Sheerin, Una Marie" sort="Sheerin, Una Marie" uniqKey="Sheerin U" first="Una-Marie" last="Sheerin">Una-Marie Sheerin</name>
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<author><name sortKey="Rubio Agusti, Ignacio" sort="Rubio Agusti, Ignacio" uniqKey="Rubio Agusti I" first="Ignacio" last="Rubio-Agusti">Ignacio Rubio-Agusti</name>
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<author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name>
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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name>
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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

Source :

English descriptors

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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	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.