Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
Identifieur interne : 003065 ( Ncbi/Checkpoint ); précédent : 003064; suivant : 003066Pantothenate 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 TazirSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- 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:21442655Le document en format XML
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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></author><author><name sortKey="Grid, Djamel" sort="Grid, Djamel" uniqKey="Grid D" first="Djamel" last="Grid">Djamel Grid</name></author><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></author><author><name sortKey="Tazir, Meriem" sort="Tazir, Meriem" uniqKey="Tazir M" first="Meriem" last="Tazir">Meriem Tazir</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date 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(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><term>Male</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader></TEI><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></record>Pour manipuler ce document sous Unix (Dilib)
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