Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.
Identifieur interne : 002075 ( Ncbi/Curation ); précédent : 002074; suivant : 002076Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.
Auteurs : Shu-Shan Zhang ; Qin Chen ; Xue-Ping Chen ; Jian-Gang Wang ; Jean-Marc Burgunder ; Hui-Fang Shang ; Jean-Marc Burgunder ; Yuan YangSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Proteins.
- genetics : Gait Disorders, Neurologic, Spastic Paraplegia, Hereditary.
- pathology : Corpus Callosum, Spastic Paraplegia, Hereditary.
- Adult, Consanguinity, Female, Humans, Magnetic Resonance Imaging, Male, Mutation.
DOI: 10.1002/mds.21942
PubMed: 18361476
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pubmed:18361476Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.</title>
<author><name sortKey="Zhang, Shu Shan" sort="Zhang, Shu Shan" uniqKey="Zhang S" first="Shu-Shan" last="Zhang">Shu-Shan Zhang</name>
</author>
<author><name sortKey="Chen, Qin" sort="Chen, Qin" uniqKey="Chen Q" first="Qin" last="Chen">Qin Chen</name>
</author>
<author><name sortKey="Chen, Xue Ping" sort="Chen, Xue Ping" uniqKey="Chen X" first="Xue-Ping" last="Chen">Xue-Ping Chen</name>
</author>
<author><name sortKey="Wang, Jian Gang" sort="Wang, Jian Gang" uniqKey="Wang J" first="Jian-Gang" last="Wang">Jian-Gang Wang</name>
</author>
<author><name sortKey="Burgunder, Jean Marc" sort="Burgunder, Jean Marc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name>
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<author><name sortKey="Shang, Hui Fang" sort="Shang, Hui Fang" uniqKey="Shang H" first="Hui-Fang" last="Shang">Hui-Fang Shang</name>
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<author><name sortKey="Burgunder, Jean Marc" sort="Burgunder, Jean Marc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name>
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<author><name sortKey="Yang, Yuan" sort="Yang, Yuan" uniqKey="Yang Y" first="Yuan" last="Yang">Yuan Yang</name>
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<idno type="doi">10.1002/mds.21942</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.</title>
<author><name sortKey="Zhang, Shu Shan" sort="Zhang, Shu Shan" uniqKey="Zhang S" first="Shu-Shan" last="Zhang">Shu-Shan Zhang</name>
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<author><name sortKey="Chen, Qin" sort="Chen, Qin" uniqKey="Chen Q" first="Qin" last="Chen">Qin Chen</name>
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<author><name sortKey="Chen, Xue Ping" sort="Chen, Xue Ping" uniqKey="Chen X" first="Xue-Ping" last="Chen">Xue-Ping Chen</name>
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<author><name sortKey="Wang, Jian Gang" sort="Wang, Jian Gang" uniqKey="Wang J" first="Jian-Gang" last="Wang">Jian-Gang Wang</name>
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<author><name sortKey="Burgunder, Jean Marc" sort="Burgunder, Jean Marc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name>
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<author><name sortKey="Shang, Hui Fang" sort="Shang, Hui Fang" uniqKey="Shang H" first="Hui-Fang" last="Shang">Hui-Fang Shang</name>
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<author><name sortKey="Burgunder, Jean Marc" sort="Burgunder, Jean Marc" uniqKey="Burgunder J" first="Jean-Marc" last="Burgunder">Jean-Marc Burgunder</name>
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<author><name sortKey="Yang, Yuan" sort="Yang, Yuan" uniqKey="Yang Y" first="Yuan" last="Yang">Yuan Yang</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2008" type="published">2008</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Consanguinity</term>
<term>Corpus Callosum (pathology)</term>
<term>Female</term>
<term>Gait Disorders, Neurologic (genetics)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Mutation</term>
<term>Proteins (genetics)</term>
<term>Spastic Paraplegia, Hereditary (genetics)</term>
<term>Spastic Paraplegia, Hereditary (pathology)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gait Disorders, Neurologic</term>
<term>Spastic Paraplegia, Hereditary</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Corpus Callosum</term>
<term>Spastic Paraplegia, Hereditary</term>
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<term>Consanguinity</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
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