A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.
Identifieur interne : 000684 ( Main/Exploration ); précédent : 000683; suivant : 000685A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.
Auteurs : Eiichi Araki [Japon] ; Yoshio Tsuboi ; Justus Daechsel ; Austen Milnerwood ; Carles Vilarino-Guell ; Naoki Fujii ; Takayasu Mishima ; Takayuki Oka ; Hideo Hara ; Jiro Fukae ; Matthew J. FarrerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- Age of Onset, Aged, Atrophy, Cytokines (metabolism), Female, Frontotemporal Dementia (genetics), Genetic Testing, HEK293 Cells, Humans, Male, Microtubule-Associated Proteins (genetics), Microtubules (pathology), Middle Aged, Neurologic Examination, Parkinsonian Disorders (genetics), Polymorphism, Single Nucleotide (genetics), Transfection.
- MESH :
- chemical , genetics : Microtubule-Associated Proteins.
- chemical , metabolism : Cytokines.
- genetics : Frontotemporal Dementia, Parkinsonian Disorders, Polymorphism, Single Nucleotide.
- pathology : Microtubules.
- Age of Onset, Aged, Atrophy, Female, Genetic Testing, HEK293 Cells, Humans, Male, Middle Aged, Neurologic Examination, Transfection.
Abstract
Depression, parkinsonism, and hypoventilation (Perry syndrome) or familial motor neuron disease have been linked to mutations in dynactin P150(Glued) (DCTN1).
DOI: 10.1002/mds.25833
PubMed: 24676999
Affiliations:
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Le document en format XML
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Farrer</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="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term><term>Aged</term><term>Atrophy</term><term>Cytokines (metabolism)</term><term>Female</term><term>Frontotemporal Dementia (genetics)</term><term>Genetic Testing</term><term>HEK293 Cells</term><term>Humans</term><term>Male</term><term>Microtubule-Associated Proteins (genetics)</term><term>Microtubules (pathology)</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Parkinsonian Disorders (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Transfection</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Microtubule-Associated Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Cytokines</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Frontotemporal Dementia</term><term>Parkinsonian Disorders</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Microtubules</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Aged</term><term>Atrophy</term><term>Female</term><term>Genetic Testing</term><term>HEK293 Cells</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Transfection</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Depression, parkinsonism, and hypoventilation (Perry syndrome) or familial motor neuron disease have been linked to mutations in dynactin P150(Glued) (DCTN1).</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><noCountry><name sortKey="Daechsel, Justus" sort="Daechsel, Justus" uniqKey="Daechsel J" first="Justus" last="Daechsel">Justus Daechsel</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Fujii, Naoki" sort="Fujii, Naoki" uniqKey="Fujii N" first="Naoki" last="Fujii">Naoki Fujii</name><name sortKey="Fukae, Jiro" sort="Fukae, Jiro" uniqKey="Fukae J" first="Jiro" last="Fukae">Jiro Fukae</name><name sortKey="Hara, Hideo" sort="Hara, Hideo" uniqKey="Hara H" first="Hideo" last="Hara">Hideo Hara</name><name sortKey="Milnerwood, Austen" sort="Milnerwood, Austen" uniqKey="Milnerwood A" first="Austen" last="Milnerwood">Austen Milnerwood</name><name sortKey="Mishima, Takayasu" sort="Mishima, Takayasu" uniqKey="Mishima T" first="Takayasu" last="Mishima">Takayasu Mishima</name><name sortKey="Oka, Takayuki" sort="Oka, Takayuki" uniqKey="Oka T" first="Takayuki" last="Oka">Takayuki Oka</name><name sortKey="Tsuboi, Yoshio" sort="Tsuboi, Yoshio" uniqKey="Tsuboi Y" first="Yoshio" last="Tsuboi">Yoshio Tsuboi</name><name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name></noCountry><country name="Japon"><noRegion><name sortKey="Araki, Eiichi" sort="Araki, Eiichi" uniqKey="Araki E" first="Eiichi" last="Araki">Eiichi Araki</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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