Identification of a de novo mutation in SPG11.
Identifieur interne : 002991 ( Ncbi/Curation ); précédent : 002990; suivant : 002992Identification of a de novo mutation in SPG11.
Auteurs : Paola S. Denora ; Knut Brockmann ; Marianna Ciccolella ; Jeremy Truchetto ; Giovanni Stevanin ; Filippo M. SantorelliSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
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
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pubmed:20108361Le 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>
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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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<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="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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<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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<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>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Corpus Callosum</term>
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<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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