MovDisordV3, PubMed, Checkpoint, bibRecord, 001839

Identification of a de novo mutation in SPG11.

Identifieur interne : 001839 ( PubMed/Checkpoint ); précédent : 001838; suivant : 001840

Identification of a de novo mutation in SPG11.

Auteurs : Paola S. Denora ; Knut Brockmann ; Marianna Ciccolella ; Jeremy Truchetto ; Giovanni Stevanin ; Filippo M. Santorelli

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.

RBID : pubmed:20108361

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.

DOI: 10.1002/mds.22964
PubMed: 20108361

Affiliations:

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

to stream PubMed, to step Corpus: 001A11
to stream PubMed, to step Curation: 001A11

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pubmed:20108361

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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<sourceDesc><biblStruct><analytic><title xml:lang="en">Identification of a de novo mutation in SPG11.</title>
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<author><name sortKey="Brockmann, Knut" sort="Brockmann, Knut" uniqKey="Brockmann K" first="Knut" last="Brockmann">Knut Brockmann</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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<author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
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<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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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<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>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Atrophy</term>
<term>Paraplegia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 15</term>
<term>Chromosomes, Human, Y</term>
<term>Exons</term>
<term>Paraplegia</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Corpus Callosum</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
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<DateCreated><Year>2010</Year>
<Month>03</Month>
<Day>23</Day>
</DateCreated>
<DateCompleted><Year>2010</Year>
<Month>08</Month>
<Day>10</Day>
</DateCompleted>
<DateRevised><Year>2010</Year>
<Month>09</Month>
<Day>27</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>25</Volume>
<Issue>4</Issue>
<PubDate><Year>2010</Year>
<Month>Mar</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Identification of a de novo mutation in SPG11.</ArticleTitle>
<Pagination><MedlinePgn>501-3</MedlinePgn>
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<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22964</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Denora</LastName>
<ForeName>Paola S</ForeName>
<Initials>PS</Initials>
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<Author ValidYN="Y"><LastName>Brockmann</LastName>
<ForeName>Knut</ForeName>
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<Author ValidYN="Y"><LastName>Ciccolella</LastName>
<ForeName>Marianna</ForeName>
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<Author ValidYN="Y"><LastName>Truchetto</LastName>
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<Author ValidYN="Y"><LastName>Stevanin</LastName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002884">Chromosomes, Human, Pair 15</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D041322">Chromosomes, Human, Y</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D003337">Corpus Callosum</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010264">Paraplegia</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D011506">Proteins</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year>
<Month>1</Month>
<Day>29</Day>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Brockmann, Knut" sort="Brockmann, Knut" uniqKey="Brockmann K" first="Knut" last="Brockmann">Knut Brockmann</name>
<name sortKey="Ciccolella, Marianna" sort="Ciccolella, Marianna" uniqKey="Ciccolella M" first="Marianna" last="Ciccolella">Marianna Ciccolella</name>
<name sortKey="Denora, Paola S" sort="Denora, Paola S" uniqKey="Denora P" first="Paola S" last="Denora">Paola S. Denora</name>
<name sortKey="Santorelli, Filippo M" sort="Santorelli, Filippo M" uniqKey="Santorelli F" first="Filippo M" last="Santorelli">Filippo M. Santorelli</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<name sortKey="Truchetto, Jeremy" sort="Truchetto, Jeremy" uniqKey="Truchetto J" first="Jeremy" last="Truchetto">Jeremy Truchetto</name>
</noCountry>
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</record>

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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.

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

Pour générer des pages wiki