A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Identifieur interne : 000F10 ( Main/Exploration ); précédent : 000F09; suivant : 000F11A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Auteurs : Rita Horvath [Royaume-Uni] ; Elke Holinski-Feder ; Vivienne C M. Neeve ; Angela Pyle ; Helen Griffin ; Deephthi Ashok ; Charlotte Foley ; Gavin Hudson ; Bernd Rautenstrauss ; Gudrun Nürnberg ; Peter Nürnberg ; Jörg Kortler ; Birgit Neitzel ; Ingelore B Ssmann ; Thahira Rahman ; Bernard Keavney ; John Loughlin ; Sophie Hambleton ; Benedikt Schoser ; Hanns Lochmüller ; Mauro Santibanez-Koref ; Patrick F. ChinnerySource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adolescent, Brain (metabolism), Brain (pathology), Child, Consanguinity, Dystonic Disorders (genetics), Dystonic Disorders (metabolism), Dystonic Disorders (pathology), Humans, Iron (metabolism), Male, Mutation, Missense, Nerve Degeneration (genetics), Nerve Degeneration (metabolism), Nerve Degeneration (pathology), Optic Atrophy (genetics), Optic Atrophy (metabolism), Optic Atrophy (pathology), Pedigree, Peripheral Nervous System Diseases (genetics), Peripheral Nervous System Diseases (metabolism), Peripheral Nervous System Diseases (pathology), Syndrome.
- MESH :
- chemical , metabolism : Iron.
- genetics : Dystonic Disorders, Nerve Degeneration, Optic Atrophy, Peripheral Nervous System Diseases.
- metabolism : Brain, Dystonic Disorders, Nerve Degeneration, Optic Atrophy, Peripheral Nervous System Diseases.
- pathology : Brain, Dystonic Disorders, Nerve Degeneration, Optic Atrophy, Peripheral Nervous System Diseases.
- Adolescent, Child, Consanguinity, Humans, Male, Mutation, Missense, Pedigree, Syndrome.
Abstract
Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes.
DOI: 10.1002/mds.24980
PubMed: 22508347
Affiliations:
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Le document en format XML
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Neeve</name></author><author><name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name></author><author><name sortKey="Griffin, Helen" sort="Griffin, Helen" uniqKey="Griffin H" first="Helen" last="Griffin">Helen Griffin</name></author><author><name sortKey="Ashok, Deephthi" sort="Ashok, Deephthi" uniqKey="Ashok D" first="Deephthi" last="Ashok">Deephthi Ashok</name></author><author><name sortKey="Foley, Charlotte" sort="Foley, Charlotte" uniqKey="Foley C" first="Charlotte" last="Foley">Charlotte Foley</name></author><author><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name></author><author><name sortKey="Rautenstrauss, Bernd" sort="Rautenstrauss, Bernd" uniqKey="Rautenstrauss B" first="Bernd" last="Rautenstrauss">Bernd Rautenstrauss</name></author><author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name></author><author><name sortKey="Kortler, Jorg" sort="Kortler, Jorg" uniqKey="Kortler J" first="Jörg" last="Kortler">Jörg Kortler</name></author><author><name sortKey="Neitzel, Birgit" sort="Neitzel, Birgit" uniqKey="Neitzel B" first="Birgit" last="Neitzel">Birgit Neitzel</name></author><author><name sortKey="B Ssmann, Ingelore" sort="B Ssmann, Ingelore" uniqKey="B Ssmann I" first="Ingelore" last="B Ssmann">Ingelore B Ssmann</name></author><author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name></author><author><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name></author><author><name sortKey="Loughlin, John" sort="Loughlin, John" uniqKey="Loughlin J" first="John" last="Loughlin">John Loughlin</name></author><author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name></author><author><name sortKey="Schoser, Benedikt" sort="Schoser, Benedikt" uniqKey="Schoser B" first="Benedikt" last="Schoser">Benedikt Schoser</name></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name></author><author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.24980</idno><idno type="RBID">pubmed:22508347</idno><idno type="pmid">22508347</idno><idno type="wicri:Area/PubMed/Corpus">000E00</idno><idno type="wicri:Area/PubMed/Curation">000E00</idno><idno type="wicri:Area/PubMed/Checkpoint">000F70</idno><idno type="wicri:Area/Ncbi/Merge">003630</idno><idno type="wicri:Area/Ncbi/Curation">003630</idno><idno type="wicri:Area/Ncbi/Checkpoint">003630</idno><idno type="wicri:Area/Main/Merge">000F60</idno><idno type="wicri:Area/Main/Curation">000F10</idno><idno type="wicri:Area/Main/Exploration">000F10</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.</title><author><name sortKey="Horvath, Rita" sort="Horvath, Rita" uniqKey="Horvath R" first="Rita" last="Horvath">Rita Horvath</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. rita.horvath@ncl.ac.uk</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></affiliation></author><author><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name></author><author><name sortKey="Neeve, Vivienne C M" sort="Neeve, Vivienne C M" uniqKey="Neeve V" first="Vivienne C M" last="Neeve">Vivienne C M. Neeve</name></author><author><name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name></author><author><name sortKey="Griffin, Helen" sort="Griffin, Helen" uniqKey="Griffin H" first="Helen" last="Griffin">Helen Griffin</name></author><author><name sortKey="Ashok, Deephthi" sort="Ashok, Deephthi" uniqKey="Ashok D" first="Deephthi" last="Ashok">Deephthi Ashok</name></author><author><name sortKey="Foley, Charlotte" sort="Foley, Charlotte" uniqKey="Foley C" first="Charlotte" last="Foley">Charlotte Foley</name></author><author><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name></author><author><name sortKey="Rautenstrauss, Bernd" sort="Rautenstrauss, Bernd" uniqKey="Rautenstrauss B" first="Bernd" last="Rautenstrauss">Bernd Rautenstrauss</name></author><author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name></author><author><name sortKey="Kortler, Jorg" sort="Kortler, Jorg" uniqKey="Kortler J" first="Jörg" last="Kortler">Jörg Kortler</name></author><author><name sortKey="Neitzel, Birgit" sort="Neitzel, Birgit" uniqKey="Neitzel B" first="Birgit" last="Neitzel">Birgit Neitzel</name></author><author><name sortKey="B Ssmann, Ingelore" sort="B Ssmann, Ingelore" uniqKey="B Ssmann I" first="Ingelore" last="B Ssmann">Ingelore B Ssmann</name></author><author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name></author><author><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name></author><author><name sortKey="Loughlin, John" sort="Loughlin, John" uniqKey="Loughlin J" first="John" last="Loughlin">John Loughlin</name></author><author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name></author><author><name sortKey="Schoser, Benedikt" sort="Schoser, Benedikt" uniqKey="Schoser B" first="Benedikt" last="Schoser">Benedikt Schoser</name></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name></author><author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name></author><author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>Child</term><term>Consanguinity</term><term>Dystonic Disorders (genetics)</term><term>Dystonic Disorders (metabolism)</term><term>Dystonic Disorders (pathology)</term><term>Humans</term><term>Iron (metabolism)</term><term>Male</term><term>Mutation, Missense</term><term>Nerve Degeneration (genetics)</term><term>Nerve Degeneration (metabolism)</term><term>Nerve Degeneration (pathology)</term><term>Optic Atrophy (genetics)</term><term>Optic Atrophy (metabolism)</term><term>Optic Atrophy (pathology)</term><term>Pedigree</term><term>Peripheral Nervous System Diseases (genetics)</term><term>Peripheral Nervous System Diseases (metabolism)</term><term>Peripheral Nervous System Diseases (pathology)</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Iron</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Nerve Degeneration</term><term>Optic Atrophy</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Dystonic Disorders</term><term>Nerve Degeneration</term><term>Optic Atrophy</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Dystonic Disorders</term><term>Nerve Degeneration</term><term>Optic Atrophy</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Consanguinity</term><term>Humans</term><term>Male</term><term>Mutation, Missense</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><noCountry><name sortKey="Ashok, Deephthi" sort="Ashok, Deephthi" uniqKey="Ashok D" first="Deephthi" last="Ashok">Deephthi Ashok</name><name sortKey="B Ssmann, Ingelore" sort="B Ssmann, Ingelore" uniqKey="B Ssmann I" first="Ingelore" last="B Ssmann">Ingelore B Ssmann</name><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name><name sortKey="Foley, Charlotte" sort="Foley, Charlotte" uniqKey="Foley C" first="Charlotte" last="Foley">Charlotte Foley</name><name sortKey="Griffin, Helen" sort="Griffin, Helen" uniqKey="Griffin H" first="Helen" last="Griffin">Helen Griffin</name><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name><name sortKey="Kortler, Jorg" sort="Kortler, Jorg" uniqKey="Kortler J" first="Jörg" last="Kortler">Jörg Kortler</name><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><name sortKey="Loughlin, John" sort="Loughlin, John" uniqKey="Loughlin J" first="John" last="Loughlin">John Loughlin</name><name sortKey="Neeve, Vivienne C M" sort="Neeve, Vivienne C M" uniqKey="Neeve V" first="Vivienne C M" last="Neeve">Vivienne C M. Neeve</name><name sortKey="Neitzel, Birgit" sort="Neitzel, Birgit" uniqKey="Neitzel B" first="Birgit" last="Neitzel">Birgit Neitzel</name><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nürnberg">Gudrun Nürnberg</name><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name><name sortKey="Rautenstrauss, Bernd" sort="Rautenstrauss, Bernd" uniqKey="Rautenstrauss B" first="Bernd" last="Rautenstrauss">Bernd Rautenstrauss</name><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name><name sortKey="Schoser, Benedikt" sort="Schoser, Benedikt" uniqKey="Schoser B" first="Benedikt" last="Schoser">Benedikt Schoser</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Horvath, Rita" sort="Horvath, Rita" uniqKey="Horvath R" first="Rita" last="Horvath">Rita Horvath</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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