Autophagy and neurodegeneration - genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link.
Identifieur interne : 000A95 ( Main/Exploration ); précédent : 000A94; suivant : 000A96Autophagy and neurodegeneration - genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link.
Auteurs : Darius Ebrahimi-Fakhari [Allemagne]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Carrier Proteins.
- etiology : Intellectual Disability, Neurodegenerative Diseases, Spasms, Infantile.
- genetics : Exome, Iron Overload, Mutation.
- metabolism : Brain.
- Autophagy, Female, Genes, X-Linked, Humans, Male, Phenotype.
DOI: 10.1002/mds.25563
PubMed: 23939684
Affiliations:
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Le document en format XML
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<author><name sortKey="Ebrahimi Fakhari, Darius" sort="Ebrahimi Fakhari, Darius" uniqKey="Ebrahimi Fakhari D" first="Darius" last="Ebrahimi-Fakhari">Darius Ebrahimi-Fakhari</name>
<affiliation wicri:level="3"><nlm:affiliation>Division of Inherited Metabolic Diseases and Pediatric Neurology, Department of Pediatrics, Heidelberg Children's Hospital, Ruprecht-Karls University, Heidelberg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Division of Inherited Metabolic Diseases and Pediatric Neurology, Department of Pediatrics, Heidelberg Children's Hospital, Ruprecht-Karls University, Heidelberg</wicri:regionArea>
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<region type="district" nuts="2">District de Karlsruhe</region>
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<affiliation wicri:level="3"><nlm:affiliation>Division of Inherited Metabolic Diseases and Pediatric Neurology, Department of Pediatrics, Heidelberg Children's Hospital, Ruprecht-Karls University, Heidelberg, Germany.</nlm:affiliation>
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<term>Brain (metabolism)</term>
<term>Carrier Proteins (genetics)</term>
<term>Exome (genetics)</term>
<term>Female</term>
<term>Genes, X-Linked</term>
<term>Humans</term>
<term>Intellectual Disability (etiology)</term>
<term>Iron Overload (genetics)</term>
<term>Male</term>
<term>Mutation (genetics)</term>
<term>Neurodegenerative Diseases (etiology)</term>
<term>Phenotype</term>
<term>Spasms, Infantile (etiology)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
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<term>Neurodegenerative Diseases</term>
<term>Spasms, Infantile</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exome</term>
<term>Iron Overload</term>
<term>Mutation</term>
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<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term>
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<keywords scheme="MESH" xml:lang="en"><term>Autophagy</term>
<term>Female</term>
<term>Genes, X-Linked</term>
<term>Humans</term>
<term>Male</term>
<term>Phenotype</term>
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