MovDisordV3, France, Analysis, bibRecord, 000214

Identification of a de novo mutation in SPG11

Identifieur interne : 000214 ( France/Analysis ); précédent : 000213; suivant : 000215

Identification of a de novo mutation in SPG11

Auteurs : Paola S. Denora [France, Italie] ; Knut Brockmann [Allemagne] ; Marianna Ciccolella [Italie] ; Jeremy Truchetto [France] ; Giovanni Stevanin [France, Italie] ; Filippo M. Santorelli [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2010-03-15.

RBID : ISTEX:5F0B26E472132EF4678DA8A294B26A0A54B58DF4

English descriptors

KwdEn :
- Adolescent, Atrophy (complications), Child, Chromosomes, Human, Pair 15 (genetics), Chromosomes, Human, Y (genetics), Corpus Callosum (pathology), DNA Mutational Analysis, Exons (genetics), Female, Humans, Male, Paraplegia (complications), Paraplegia (genetics), Pedigree, Point Mutation (genetics), Proteins (genetics), Young Adult.
MESH :
- chemical , genetics : Proteins.
- complications : Atrophy, Paraplegia.
- genetics : Chromosomes, Human, Pair 15, Chromosomes, Human, Y, Exons, Paraplegia, Point Mutation.
- pathology : Corpus Callosum.
- Adolescent, Child, DNA Mutational Analysis, Female, Humans, Male, Pedigree, Young Adult.

Url:

https://api.istex.fr/document/5F0B26E472132EF4678DA8A294B26A0A54B58DF4/fulltext/pdf

DOI: 10.1002/mds.22964

Affiliations:

Links to Exploration step

ISTEX:5F0B26E472132EF4678DA8A294B26A0A54B58DF4

Le document en format XML

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<author><name sortKey="Denora, Paola S" sort="Denora, Paola S" uniqKey="Denora P" first="Paola S." last="Denora">Paola S. Denora</name>
</author>
<author><name sortKey="Brockmann, Knut" sort="Brockmann, Knut" uniqKey="Brockmann K" first="Knut" last="Brockmann">Knut Brockmann</name>
</author>
<author><name sortKey="Ciccolella, Marianna" sort="Ciccolella, Marianna" uniqKey="Ciccolella M" first="Marianna" last="Ciccolella">Marianna Ciccolella</name>
</author>
<author><name sortKey="Truchetto, Jeremy" sort="Truchetto, Jeremy" uniqKey="Truchetto J" first="Jeremy" last="Truchetto">Jeremy Truchetto</name>
</author>
<author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
</author>
<author><name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M." last="Santorelli">Filippo M. Santorelli</name>
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<author><name sortKey="Ciccolella, Marianna" sort="Ciccolella, Marianna" uniqKey="Ciccolella M" first="Marianna" last="Ciccolella">Marianna Ciccolella</name>
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<author><name sortKey="Truchetto, Jeremy" sort="Truchetto, Jeremy" uniqKey="Truchetto J" first="Jeremy" last="Truchetto">Jeremy Truchetto</name>
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<series><title level="j">Movement Disorders</title>
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<term>Atrophy (complications)</term>
<term>Child</term>
<term>Chromosomes, Human, Pair 15 (genetics)</term>
<term>Chromosomes, Human, Y (genetics)</term>
<term>Corpus Callosum (pathology)</term>
<term>DNA Mutational Analysis</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Paraplegia (complications)</term>
<term>Paraplegia (genetics)</term>
<term>Pedigree</term>
<term>Point Mutation (genetics)</term>
<term>Proteins (genetics)</term>
<term>Young Adult</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term>
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<term>Paraplegia</term>
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<term>Chromosomes, Human, Y</term>
<term>Exons</term>
<term>Paraplegia</term>
<term>Point Mutation</term>
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<term>DNA Mutational Analysis</term>
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   |wiki=    Wicri/Santé
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   |texte=   Identification of a de novo mutation in SPG11
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Movement Disorders (revue)

Identification of a de novo mutation in SPG11

Identification of a de novo mutation in SPG11

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)

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.