Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism
Identifieur interne : 000A72 ( Main/Exploration ); précédent : 000A71; suivant : 000A73Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism
Auteurs : Vikas Bhambhani [États-Unis] ; Wendy J. Introne [États-Unis] ; Codrin Lungu [États-Unis] ; Andrew Cullinane [États-Unis] ; Camilo Toro [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2013.
English descriptors
- KwdEn :
- Antiparkinson Agents (therapeutic use), Chediak-Higashi Syndrome (diagnosis), Chediak-Higashi Syndrome (drug therapy), Chediak-Higashi Syndrome (genetics), Electromyography, Humans, Hyperpigmentation (genetics), Levodopa (therapeutic use), Magnetic Resonance Imaging, Male, Movement Disorders (drug therapy), Movement Disorders (etiology), Mutation, Missense, Neurologic Examination, Parkinson Disease (diagnosis), Parkinson Disease (drug therapy), Skin (pathology), Young Adult.
- MESH :
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- diagnosis : Chediak-Higashi Syndrome, Parkinson Disease.
- drug therapy : Chediak-Higashi Syndrome, Movement Disorders, Parkinson Disease.
- etiology : Movement Disorders.
- genetics : Chediak-Higashi Syndrome, Hyperpigmentation.
- pathology : Skin.
- Electromyography, Humans, Magnetic Resonance Imaging, Male, Mutation, Missense, Neurologic Examination, Young Adult.
Url:
DOI: 10.1002/mds.25386
PubMed: 23436631
PubMed Central: 3581862
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000315
- to stream Pmc, to step Curation: 000315
- to stream Pmc, to step Checkpoint: 000135
- to stream PubMed, to step Corpus: 000A26
- to stream PubMed, to step Curation: 000A26
- to stream PubMed, to step Checkpoint: 000A82
- to stream Ncbi, to step Merge: 003A55
- to stream Ncbi, to step Curation: 003A55
- to stream Ncbi, to step Checkpoint: 003A55
- to stream Main, to step Merge: 000A72
- to stream Main, to step Curation: 000A72
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism</title>
<author><name sortKey="Bhambhani, Vikas" sort="Bhambhani, Vikas" uniqKey="Bhambhani V" first="Vikas" last="Bhambhani">Vikas Bhambhani</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Human Biochemical Genetics Section, NHGRI, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Human Biochemical Genetics Section, NHGRI, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Introne, Wendy J" sort="Introne, Wendy J" uniqKey="Introne W" first="Wendy J." last="Introne">Wendy J. Introne</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Office of the Clinical Director, NHGRI, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Office of the Clinical Director, NHGRI, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Lungu, Codrin" sort="Lungu, Codrin" uniqKey="Lungu C" first="Codrin" last="Lungu">Codrin Lungu</name>
<affiliation wicri:level="2"><nlm:aff id="A3">Office of the Clinical Director, NINDS, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Office of the Clinical Director, NINDS, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Cullinane, Andrew" sort="Cullinane, Andrew" uniqKey="Cullinane A" first="Andrew" last="Cullinane">Andrew Cullinane</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Human Biochemical Genetics Section, NHGRI, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Human Biochemical Genetics Section, NHGRI, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Toro, Camilo" sort="Toro, Camilo" uniqKey="Toro C" first="Camilo" last="Toro">Camilo Toro</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Office of the Clinical Director, NHGRI, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Office of the Clinical Director, NHGRI, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">23436631</idno>
<idno type="pmc">3581862</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581862</idno>
<idno type="RBID">PMC:3581862</idno>
<idno type="doi">10.1002/mds.25386</idno>
<date when="2013">2013</date>
<idno type="wicri:Area/Pmc/Corpus">000315</idno>
<idno type="wicri:Area/Pmc/Curation">000315</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000135</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">000A26</idno>
<idno type="wicri:Area/PubMed/Curation">000A26</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000A82</idno>
<idno type="wicri:Area/Ncbi/Merge">003A55</idno>
<idno type="wicri:Area/Ncbi/Curation">003A55</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003A55</idno>
<idno type="wicri:doubleKey">0885-3185:2013:Bhambhani V:chediak:higashi:syndrome</idno>
<idno type="wicri:Area/Main/Merge">000A72</idno>
<idno type="wicri:Area/Main/Curation">000A72</idno>
<idno type="wicri:Area/Main/Exploration">000A72</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism</title>
<author><name sortKey="Bhambhani, Vikas" sort="Bhambhani, Vikas" uniqKey="Bhambhani V" first="Vikas" last="Bhambhani">Vikas Bhambhani</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Human Biochemical Genetics Section, NHGRI, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Human Biochemical Genetics Section, NHGRI, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Introne, Wendy J" sort="Introne, Wendy J" uniqKey="Introne W" first="Wendy J." last="Introne">Wendy J. Introne</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Office of the Clinical Director, NHGRI, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Office of the Clinical Director, NHGRI, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Lungu, Codrin" sort="Lungu, Codrin" uniqKey="Lungu C" first="Codrin" last="Lungu">Codrin Lungu</name>
<affiliation wicri:level="2"><nlm:aff id="A3">Office of the Clinical Director, NINDS, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Office of the Clinical Director, NINDS, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Cullinane, Andrew" sort="Cullinane, Andrew" uniqKey="Cullinane A" first="Andrew" last="Cullinane">Andrew Cullinane</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Human Biochemical Genetics Section, NHGRI, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Human Biochemical Genetics Section, NHGRI, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Toro, Camilo" sort="Toro, Camilo" uniqKey="Toro C" first="Camilo" last="Toro">Camilo Toro</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Office of the Clinical Director, NHGRI, NIH, Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Office of the Clinical Director, NHGRI, NIH, Bethesda</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiparkinson Agents (therapeutic use)</term>
<term>Chediak-Higashi Syndrome (diagnosis)</term>
<term>Chediak-Higashi Syndrome (drug therapy)</term>
<term>Chediak-Higashi Syndrome (genetics)</term>
<term>Electromyography</term>
<term>Humans</term>
<term>Hyperpigmentation (genetics)</term>
<term>Levodopa (therapeutic use)</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Movement Disorders (drug therapy)</term>
<term>Movement Disorders (etiology)</term>
<term>Mutation, Missense</term>
<term>Neurologic Examination</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (drug therapy)</term>
<term>Skin (pathology)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chediak-Higashi Syndrome</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Chediak-Higashi Syndrome</term>
<term>Movement Disorders</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chediak-Higashi Syndrome</term>
<term>Hyperpigmentation</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Skin</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Electromyography</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Mutation, Missense</term>
<term>Neurologic Examination</term>
<term>Young Adult</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Maryland</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Maryland"><name sortKey="Bhambhani, Vikas" sort="Bhambhani, Vikas" uniqKey="Bhambhani V" first="Vikas" last="Bhambhani">Vikas Bhambhani</name>
</region>
<name sortKey="Cullinane, Andrew" sort="Cullinane, Andrew" uniqKey="Cullinane A" first="Andrew" last="Cullinane">Andrew Cullinane</name>
<name sortKey="Introne, Wendy J" sort="Introne, Wendy J" uniqKey="Introne W" first="Wendy J." last="Introne">Wendy J. Introne</name>
<name sortKey="Lungu, Codrin" sort="Lungu, Codrin" uniqKey="Lungu C" first="Codrin" last="Lungu">Codrin Lungu</name>
<name sortKey="Toro, Camilo" sort="Toro, Camilo" uniqKey="Toro C" first="Camilo" last="Toro">Camilo Toro</name>
</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 000A72 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000A72 | 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= PMC:3581862 |texte= Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23436631" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
This area was generated with Dilib version V0.6.23. |