MovDisordV3, PubMed, Checkpoint, bibRecord, 001183

Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.

Identifieur interne : 001183 ( PubMed/Checkpoint ); précédent : 001182; suivant : 001184

Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.

Auteurs : Salima Assami ; Hamid Azzedine ; Sonia Nouioua ; Emeline Mundwiller ; Soulaiman Mahoui ; Samira Makri ; Meriam Djemai ; Djamel Grid ; Alexis Brice ; Tarik Hamadouche ; Giovanni Stevanin ; Meriem Tazir

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.

RBID : pubmed:21442655

English descriptors

KwdEn :
- Adolescent, Child, Child, Preschool, Family Health, Female, Genetic Association Studies (methods), Genetic Predisposition to Disease (genetics), Humans, Male, Mutation (genetics), Neurodegenerative Diseases (genetics), Phosphotransferases (Alcohol Group Acceptor) (genetics), Young Adult.
MESH :
- chemical , genetics : Phosphotransferases (Alcohol Group Acceptor).
- genetics : Genetic Predisposition to Disease, Mutation, Neurodegenerative Diseases.
- methods : Genetic Association Studies.
- Adolescent, Child, Child, Preschool, Family Health, Female, Humans, Male, Young Adult.

DOI: 10.1002/mds.23648
PubMed: 21442655

Affiliations:

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pubmed:21442655

Le document en format XML

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<author><name sortKey="Assami, Salima" sort="Assami, Salima" uniqKey="Assami S" first="Salima" last="Assami">Salima Assami</name>
</author>
<author><name sortKey="Azzedine, Hamid" sort="Azzedine, Hamid" uniqKey="Azzedine H" first="Hamid" last="Azzedine">Hamid Azzedine</name>
</author>
<author><name sortKey="Nouioua, Sonia" sort="Nouioua, Sonia" uniqKey="Nouioua S" first="Sonia" last="Nouioua">Sonia Nouioua</name>
</author>
<author><name sortKey="Mundwiller, Emeline" sort="Mundwiller, Emeline" uniqKey="Mundwiller E" first="Emeline" last="Mundwiller">Emeline Mundwiller</name>
</author>
<author><name sortKey="Mahoui, Soulaiman" sort="Mahoui, Soulaiman" uniqKey="Mahoui S" first="Soulaiman" last="Mahoui">Soulaiman Mahoui</name>
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<author><name sortKey="Makri, Samira" sort="Makri, Samira" uniqKey="Makri S" first="Samira" last="Makri">Samira Makri</name>
</author>
<author><name sortKey="Djemai, Meriam" sort="Djemai, Meriam" uniqKey="Djemai M" first="Meriam" last="Djemai">Meriam Djemai</name>
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<author><name sortKey="Grid, Djamel" sort="Grid, Djamel" uniqKey="Grid D" first="Djamel" last="Grid">Djamel Grid</name>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</author>
<author><name sortKey="Hamadouche, Tarik" sort="Hamadouche, Tarik" uniqKey="Hamadouche T" first="Tarik" last="Hamadouche">Tarik Hamadouche</name>
</author>
<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="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name>
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<author><name sortKey="Azzedine, Hamid" sort="Azzedine, Hamid" uniqKey="Azzedine H" first="Hamid" last="Azzedine">Hamid Azzedine</name>
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<author><name sortKey="Nouioua, Sonia" sort="Nouioua, Sonia" uniqKey="Nouioua S" first="Sonia" last="Nouioua">Sonia Nouioua</name>
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<author><name sortKey="Mundwiller, Emeline" sort="Mundwiller, Emeline" uniqKey="Mundwiller E" first="Emeline" last="Mundwiller">Emeline Mundwiller</name>
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<author><name sortKey="Mahoui, Soulaiman" sort="Mahoui, Soulaiman" uniqKey="Mahoui S" first="Soulaiman" last="Mahoui">Soulaiman Mahoui</name>
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<author><name sortKey="Makri, Samira" sort="Makri, Samira" uniqKey="Makri S" first="Samira" last="Makri">Samira Makri</name>
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<author><name sortKey="Djemai, Meriam" sort="Djemai, Meriam" uniqKey="Djemai M" first="Meriam" last="Djemai">Meriam Djemai</name>
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<author><name sortKey="Grid, Djamel" sort="Grid, Djamel" uniqKey="Grid D" first="Djamel" last="Grid">Djamel Grid</name>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<author><name sortKey="Hamadouche, Tarik" sort="Hamadouche, Tarik" uniqKey="Hamadouche T" first="Tarik" last="Hamadouche">Tarik Hamadouche</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="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</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="2011" type="published">2011</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Association Studies (methods)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation (genetics)</term>
<term>Neurodegenerative Diseases (genetics)</term>
<term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Mutation</term>
<term>Neurodegenerative Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Association Studies</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
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<Month>08</Month>
<Day>10</Day>
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<DateCompleted><Year>2011</Year>
<Month>12</Month>
<Day>08</Day>
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<JournalIssue CitedMedium="Internet"><Volume>26</Volume>
<Issue>9</Issue>
<PubDate><Year>2011</Year>
<Month>Aug</Month>
<Day>1</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.</ArticleTitle>
<Pagination><MedlinePgn>1777-9</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23648</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Assami</LastName>
<ForeName>Salima</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Azzedine</LastName>
<ForeName>Hamid</ForeName>
<Initials>H</Initials>
</Author>
<Author ValidYN="Y"><LastName>Nouioua</LastName>
<ForeName>Sonia</ForeName>
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<Author ValidYN="Y"><LastName>Mundwiller</LastName>
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<Author ValidYN="Y"><LastName>Mahoui</LastName>
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<Author ValidYN="Y"><LastName>Djemai</LastName>
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<Author ValidYN="Y"><LastName>Grid</LastName>
<ForeName>Djamel</ForeName>
<Initials>D</Initials>
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<Author ValidYN="Y"><LastName>Brice</LastName>
<ForeName>Alexis</ForeName>
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<Author ValidYN="Y"><LastName>Hamadouche</LastName>
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<Author ValidYN="Y"><LastName>Stevanin</LastName>
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<Author ValidYN="Y"><LastName>Tazir</LastName>
<ForeName>Meriem</ForeName>
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<Language>eng</Language>
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<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
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<ArticleDate DateType="Electronic"><Year>2011</Year>
<Month>03</Month>
<Day>25</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 2.7.1.-</RegistryNumber>
<NameOfSubstance UI="D017853">Phosphotransferases (Alcohol Group Acceptor)</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.1.33</RegistryNumber>
<NameOfSubstance UI="C023088">pantothenate kinase</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName>
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<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D019636">Neurodegenerative Diseases</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017853">Phosphotransferases (Alcohol Group Acceptor)</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="aheadofprint"><Year>2011</Year>
<Month>3</Month>
<Day>25</Day>
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<ArticleIdList><ArticleId IdType="doi">10.1002/mds.23648</ArticleId>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Assami, Salima" sort="Assami, Salima" uniqKey="Assami S" first="Salima" last="Assami">Salima Assami</name>
<name sortKey="Azzedine, Hamid" sort="Azzedine, Hamid" uniqKey="Azzedine H" first="Hamid" last="Azzedine">Hamid Azzedine</name>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<name sortKey="Djemai, Meriam" sort="Djemai, Meriam" uniqKey="Djemai M" first="Meriam" last="Djemai">Meriam Djemai</name>
<name sortKey="Grid, Djamel" sort="Grid, Djamel" uniqKey="Grid D" first="Djamel" last="Grid">Djamel Grid</name>
<name sortKey="Hamadouche, Tarik" sort="Hamadouche, Tarik" uniqKey="Hamadouche T" first="Tarik" last="Hamadouche">Tarik Hamadouche</name>
<name sortKey="Mahoui, Soulaiman" sort="Mahoui, Soulaiman" uniqKey="Mahoui S" first="Soulaiman" last="Mahoui">Soulaiman Mahoui</name>
<name sortKey="Makri, Samira" sort="Makri, Samira" uniqKey="Makri S" first="Samira" last="Makri">Samira Makri</name>
<name sortKey="Mundwiller, Emeline" sort="Mundwiller, Emeline" uniqKey="Mundwiller E" first="Emeline" last="Mundwiller">Emeline Mundwiller</name>
<name sortKey="Nouioua, Sonia" sort="Nouioua, Sonia" uniqKey="Nouioua S" first="Sonia" last="Nouioua">Sonia Nouioua</name>
<name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name>
<name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name>
</noCountry>
</tree>
</affiliations>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.

Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.

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