MovDisordV3, Main, Exploration, bibRecord, 000479

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.

Identifieur interne : 000479 ( Main/Exploration ); précédent : 000478; suivant : 000480

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.

Auteurs : Lucia Ricciardi [Italie] ; Simona Petrucci ; Arianna Guidubaldi ; Tamara Ialongo ; Laura Serra ; Alessandro Ferraris ; Barbara Span ; Marco Bozzali ; Enza Maria Valente ; Anna Rita Bentivoglio

Source :

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

RBID : pubmed:25164310

Descripteurs français

Wicri :
- geographic : Italie.

English descriptors

KwdEn :
- Adult, Disease Progression, Family Leave, Female, Heterozygote, Humans, Italy, Longitudinal Studies, Male, Mental Status Schedule, Middle Aged, Mutation (genetics), Parkinsonian Disorders (genetics), Phenotype, Protein Kinases (genetics), Severity of Illness Index.
MESH :
- chemical , genetics : Protein Kinases.
- geographic : Italy.
- genetics : Mutation, Parkinsonian Disorders.
- Adult, Disease Progression, Family Leave, Female, Heterozygote, Humans, Longitudinal Studies, Male, Mental Status Schedule, Middle Aged, Phenotype, Severity of Illness Index.

Abstract

Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism.

DOI: 10.1002/mds.25994
PubMed: 25164310

Affiliations:

Le document en format XML

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<author><name sortKey="Span, Barbara" sort="Span, Barbara" uniqKey="Span B" first="Barbara" last="Span">Barbara Span</name>
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<author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.</title>
<author><name sortKey="Ricciardi, Lucia" sort="Ricciardi, Lucia" uniqKey="Ricciardi L" first="Lucia" last="Ricciardi">Lucia Ricciardi</name>
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<author><name sortKey="Serra, Laura" sort="Serra, Laura" uniqKey="Serra L" first="Laura" last="Serra">Laura Serra</name>
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<author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name>
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<author><name sortKey="Span, Barbara" sort="Span, Barbara" uniqKey="Span B" first="Barbara" last="Span">Barbara Span</name>
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<author><name sortKey="Bozzali, Marco" sort="Bozzali, Marco" uniqKey="Bozzali M" first="Marco" last="Bozzali">Marco Bozzali</name>
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<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
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<author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Italy</term>
<term>Longitudinal Studies</term>
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<term>Phenotype</term>
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<term>Disease Progression</term>
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<term>Female</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Longitudinal Studies</term>
<term>Male</term>
<term>Mental Status Schedule</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Severity of Illness Index</term>
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<front><div type="abstract" xml:lang="en">Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism.</div>
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Movement Disorders (revue)

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.

Source :

Descripteurs français

English descriptors

Abstract

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.