Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
Identifieur interne : 000638 ( Main/Exploration ); précédent : 000637; suivant : 000639Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
Auteurs : Silke Appel-Cresswell [Canada] ; Ali H. Rajput ; Vesna Sossi ; Christina Thompson ; Vanessa Silva ; Jessamyn Mckenzie ; Katherine Dinelle ; Siobhan E. Mccormick ; Carles Vilari O-Güell ; A Jon Stoessl ; Dennis W. Dickson ; Chris A. Robinson ; Matthew J. Farrer ; Alex RajputSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Brain (drug effects), Brain (radionuclide imaging), Carbon Isotopes (pharmacokinetics), Dopamine Agents (pharmacokinetics), Family Health, Fluorodeoxyglucose F18 (diagnostic use), Humans, Levodopa (pharmacokinetics), Middle Aged, Molecular Chaperones (genetics), Mutation (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Positron-Emission Tomography, Tetrabenazine (analogs & derivatives), Tetrabenazine (pharmacokinetics).
- MESH :
- chemical , analogs & derivatives : Tetrabenazine.
- chemical , diagnostic use : Fluorodeoxyglucose F18.
- chemical , genetics : Molecular Chaperones.
- chemical , pharmacokinetics : Carbon Isotopes, Dopamine Agents, Levodopa, Tetrabenazine.
- diagnosis : Parkinsonian Disorders.
- drug effects : Brain.
- genetics : Mutation, Parkinsonian Disorders.
- radionuclide imaging : Brain.
- Aged, Aged, 80 and over, Family Health, Humans, Middle Aged, Positron-Emission Tomography.
Abstract
Families of Dutch-German-Russian Mennonite descent with multi-incident parkinsonism have been identified as harboring a pathogenic DNAJC13 p.N855S mutation and are awaiting clinical and pathophysiological characterization.
DOI: 10.1002/mds.26019
PubMed: 25186792
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000399
- to stream PubMed, to step Curation: 000399
- to stream PubMed, to step Checkpoint: 000654
- to stream Ncbi, to step Merge: 004104
- to stream Ncbi, to step Curation: 004104
- to stream Ncbi, to step Checkpoint: 004104
- to stream Main, to step Merge: 000638
- to stream Main, to step Curation: 000638
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.</title><author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Center, Division of Neurology, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Center, Division of Neurology, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name></author><author><name sortKey="Sossi, Vesna" sort="Sossi, Vesna" uniqKey="Sossi V" first="Vesna" last="Sossi">Vesna Sossi</name></author><author><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name></author><author><name sortKey="Silva, Vanessa" sort="Silva, Vanessa" uniqKey="Silva V" first="Vanessa" last="Silva">Vanessa Silva</name></author><author><name sortKey="Mckenzie, Jessamyn" sort="Mckenzie, Jessamyn" uniqKey="Mckenzie J" first="Jessamyn" last="Mckenzie">Jessamyn Mckenzie</name></author><author><name sortKey="Dinelle, Katherine" sort="Dinelle, Katherine" uniqKey="Dinelle K" first="Katherine" last="Dinelle">Katherine Dinelle</name></author><author><name sortKey="Mccormick, Siobhan E" sort="Mccormick, Siobhan E" uniqKey="Mccormick S" first="Siobhan E" last="Mccormick">Siobhan E. Mccormick</name></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></author><author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W" last="Dickson">Dennis W. Dickson</name></author><author><name sortKey="Robinson, Chris A" sort="Robinson, Chris A" uniqKey="Robinson C" first="Chris A" last="Robinson">Chris A. Robinson</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:25186792</idno><idno type="pmid">25186792</idno><idno type="doi">10.1002/mds.26019</idno><idno type="wicri:Area/PubMed/Corpus">000399</idno><idno type="wicri:Area/PubMed/Curation">000399</idno><idno type="wicri:Area/PubMed/Checkpoint">000654</idno><idno type="wicri:Area/Ncbi/Merge">004104</idno><idno type="wicri:Area/Ncbi/Curation">004104</idno><idno type="wicri:Area/Ncbi/Checkpoint">004104</idno><idno type="wicri:Area/Main/Merge">000638</idno><idno type="wicri:Area/Main/Curation">000638</idno><idno type="wicri:Area/Main/Exploration">000638</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.</title><author><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><affiliation wicri:level="1"><nlm:affiliation>Pacific Parkinson's Research Center, Division of Neurology, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Pacific Parkinson's Research Center, Division of Neurology, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name></author><author><name sortKey="Sossi, Vesna" sort="Sossi, Vesna" uniqKey="Sossi V" first="Vesna" last="Sossi">Vesna Sossi</name></author><author><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name></author><author><name sortKey="Silva, Vanessa" sort="Silva, Vanessa" uniqKey="Silva V" first="Vanessa" last="Silva">Vanessa Silva</name></author><author><name sortKey="Mckenzie, Jessamyn" sort="Mckenzie, Jessamyn" uniqKey="Mckenzie J" first="Jessamyn" last="Mckenzie">Jessamyn Mckenzie</name></author><author><name sortKey="Dinelle, Katherine" sort="Dinelle, Katherine" uniqKey="Dinelle K" first="Katherine" last="Dinelle">Katherine Dinelle</name></author><author><name sortKey="Mccormick, Siobhan E" sort="Mccormick, Siobhan E" uniqKey="Mccormick S" first="Siobhan E" last="Mccormick">Siobhan E. Mccormick</name></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></author><author><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W" last="Dickson">Dennis W. Dickson</name></author><author><name sortKey="Robinson, Chris A" sort="Robinson, Chris A" uniqKey="Robinson C" first="Chris A" last="Robinson">Chris A. Robinson</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</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>Aged</term><term>Aged, 80 and over</term><term>Brain (drug effects)</term><term>Brain (radionuclide imaging)</term><term>Carbon Isotopes (pharmacokinetics)</term><term>Dopamine Agents (pharmacokinetics)</term><term>Family Health</term><term>Fluorodeoxyglucose F18 (diagnostic use)</term><term>Humans</term><term>Levodopa (pharmacokinetics)</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Mutation (genetics)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term><term>Positron-Emission Tomography</term><term>Tetrabenazine (analogs & derivatives)</term><term>Tetrabenazine (pharmacokinetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>Tetrabenazine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Fluorodeoxyglucose F18</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" type="chemical" qualifier="pharmacokinetics" xml:lang="en"><term>Carbon Isotopes</term><term>Dopamine Agents</term><term>Levodopa</term><term>Tetrabenazine</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="drug effects" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Family Health</term><term>Humans</term><term>Middle Aged</term><term>Positron-Emission Tomography</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Families of Dutch-German-Russian Mennonite descent with multi-incident parkinsonism have been identified as harboring a pathogenic DNAJC13 p.N855S mutation and are awaiting clinical and pathophysiological characterization.</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W" last="Dickson">Dennis W. Dickson</name><name sortKey="Dinelle, Katherine" sort="Dinelle, Katherine" uniqKey="Dinelle K" first="Katherine" last="Dinelle">Katherine Dinelle</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name><name sortKey="Mccormick, Siobhan E" sort="Mccormick, Siobhan E" uniqKey="Mccormick S" first="Siobhan E" last="Mccormick">Siobhan E. Mccormick</name><name sortKey="Mckenzie, Jessamyn" sort="Mckenzie, Jessamyn" uniqKey="Mckenzie J" first="Jessamyn" last="Mckenzie">Jessamyn Mckenzie</name><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name><name sortKey="Robinson, Chris A" sort="Robinson, Chris A" uniqKey="Robinson C" first="Chris A" last="Robinson">Chris A. Robinson</name><name sortKey="Silva, Vanessa" sort="Silva, Vanessa" uniqKey="Silva V" first="Vanessa" last="Silva">Vanessa Silva</name><name sortKey="Sossi, Vesna" sort="Sossi, Vesna" uniqKey="Sossi V" first="Vesna" last="Sossi">Vesna Sossi</name><name sortKey="Stoessl, A Jon" sort="Stoessl, A Jon" uniqKey="Stoessl A" first="A Jon" last="Stoessl">A Jon Stoessl</name><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></noCountry><country name="Canada"><noRegion><name sortKey="Appel Cresswell, Silke" sort="Appel Cresswell, Silke" uniqKey="Appel Cresswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000638 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000638 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:25186792
|texte= Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:25186792" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |