A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
Identifieur interne : 000354 ( Main/Exploration ); précédent : 000353; suivant : 000355A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
Auteurs : Janel O. Johnson [Royaume-Uni] ; Giovanni Stevanin ; Joyce Van De Leemput ; Dena G. Hernandez ; Sampath Arepalli ; Sylvie Forlani ; Reza Zonozi ; J Raphael Gibbs ; Alexis Brice ; Alexandra Durr ; Andrew B. SingletonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- Chromosome Mapping, Chromosomes, Human, Pair 11, France, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Humans, Intellectual Disability (genetics), Male, Middle Aged, Muscle Spasticity (genetics), Optic Atrophy (genetics), Pedigree, Phenotype, Polymorphism, Single Nucleotide (genetics), Spinocerebellar Ataxias (genetics), Trisomy.
- MESH :
- geographic : France.
- genetics : Intellectual Disability, Muscle Spasticity, Optic Atrophy, Polymorphism, Single Nucleotide, Spinocerebellar Ataxias.
- Chromosome Mapping, Chromosomes, Human, Pair 11, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Pedigree, Phenotype, Trisomy.
Abstract
The autosomal dominant spinocerebellar ataxias are most commonly caused by nucleotide repeat expansions followed by base-pair changes in functionally important genes. Structural variation has recently been shown to underlie spinocerebellar ataxia types 15 and 20.
DOI: 10.1002/mds.26059
PubMed: 25545641
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000305
- to stream PubMed, to step Curation: 000305
- to stream PubMed, to step Checkpoint: 000355
- to stream Ncbi, to step Merge: 004204
- to stream Ncbi, to step Curation: 004204
- to stream Ncbi, to step Checkpoint: 004204
- to stream Main, to step Merge: 000354
- to stream Main, to step Curation: 000354
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.</title><author><name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O" last="Johnson">Janel O. Johnson</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, Queen Square, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></author><author><name sortKey="Van De Leemput, Joyce" sort="Van De Leemput, Joyce" uniqKey="Van De Leemput J" first="Joyce" last="Van De Leemput">Joyce Van De Leemput</name></author><author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G" last="Hernandez">Dena G. Hernandez</name></author><author><name sortKey="Arepalli, Sampath" sort="Arepalli, Sampath" uniqKey="Arepalli S" first="Sampath" last="Arepalli">Sampath Arepalli</name></author><author><name sortKey="Forlani, Sylvie" sort="Forlani, Sylvie" uniqKey="Forlani S" first="Sylvie" last="Forlani">Sylvie Forlani</name></author><author><name sortKey="Zonozi, Reza" sort="Zonozi, Reza" uniqKey="Zonozi R" first="Reza" last="Zonozi">Reza Zonozi</name></author><author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J Raphael" last="Gibbs">J Raphael Gibbs</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25545641</idno><idno type="pmid">25545641</idno><idno type="doi">10.1002/mds.26059</idno><idno type="wicri:Area/PubMed/Corpus">000305</idno><idno type="wicri:Area/PubMed/Curation">000305</idno><idno type="wicri:Area/PubMed/Checkpoint">000355</idno><idno type="wicri:Area/Ncbi/Merge">004204</idno><idno type="wicri:Area/Ncbi/Curation">004204</idno><idno type="wicri:Area/Ncbi/Checkpoint">004204</idno><idno type="wicri:Area/Main/Merge">000354</idno><idno type="wicri:Area/Main/Curation">000354</idno><idno type="wicri:Area/Main/Exploration">000354</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.</title><author><name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O" last="Johnson">Janel O. Johnson</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, Queen Square, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></author><author><name sortKey="Van De Leemput, Joyce" sort="Van De Leemput, Joyce" uniqKey="Van De Leemput J" first="Joyce" last="Van De Leemput">Joyce Van De Leemput</name></author><author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G" last="Hernandez">Dena G. Hernandez</name></author><author><name sortKey="Arepalli, Sampath" sort="Arepalli, Sampath" uniqKey="Arepalli S" first="Sampath" last="Arepalli">Sampath Arepalli</name></author><author><name sortKey="Forlani, Sylvie" sort="Forlani, Sylvie" uniqKey="Forlani S" first="Sylvie" last="Forlani">Sylvie Forlani</name></author><author><name sortKey="Zonozi, Reza" sort="Zonozi, Reza" uniqKey="Zonozi R" first="Reza" last="Zonozi">Reza Zonozi</name></author><author><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J Raphael" last="Gibbs">J Raphael Gibbs</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 11</term><term>France</term><term>Genetic Linkage</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Male</term><term>Middle Aged</term><term>Muscle Spasticity (genetics)</term><term>Optic Atrophy (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Trisomy</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Intellectual Disability</term><term>Muscle Spasticity</term><term>Optic Atrophy</term><term>Polymorphism, Single Nucleotide</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Mapping</term><term>Chromosomes, Human, Pair 11</term><term>Genetic Linkage</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Phenotype</term><term>Trisomy</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The autosomal dominant spinocerebellar ataxias are most commonly caused by nucleotide repeat expansions followed by base-pair changes in functionally important genes. Structural variation has recently been shown to underlie spinocerebellar ataxia types 15 and 20.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Arepalli, Sampath" sort="Arepalli, Sampath" uniqKey="Arepalli S" first="Sampath" last="Arepalli">Sampath Arepalli</name><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><name sortKey="Forlani, Sylvie" sort="Forlani, Sylvie" uniqKey="Forlani S" first="Sylvie" last="Forlani">Sylvie Forlani</name><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J Raphael" last="Gibbs">J Raphael Gibbs</name><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G" last="Hernandez">Dena G. Hernandez</name><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B" last="Singleton">Andrew B. Singleton</name><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><name sortKey="Van De Leemput, Joyce" sort="Van De Leemput, Joyce" uniqKey="Van De Leemput J" first="Joyce" last="Van De Leemput">Joyce Van De Leemput</name><name sortKey="Zonozi, Reza" sort="Zonozi, Reza" uniqKey="Zonozi R" first="Reza" last="Zonozi">Reza Zonozi</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Johnson, Janel O" sort="Johnson, Janel O" uniqKey="Johnson J" first="Janel O" last="Johnson">Janel O. Johnson</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000354 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000354 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:25545641
|texte= A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:25545641" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |