MovDisordV3, Ncbi, Merge, bibRecord, 001902

Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.

Identifieur interne : 001902 ( Ncbi/Merge ); précédent : 001901; suivant : 001903

Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.

Auteurs : Clécio Godeiro-Júnior ; Riguel Jun Inaoka ; Marcelo Rocha Barbosa ; Maria Regina Regis Silva ; Patrícia De Carvalho Aguiar ; Orlando Barsottini

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.

RBID : pubmed:17044092

Descripteurs français

Wicri :
- geographic : Brésil.

English descriptors

KwdEn :
- Adolescent, Adult, Bone Marrow (pathology), Brazil, Carrier Proteins (genetics), Female, Humans, Membrane Glycoproteins (genetics), Mutation, Niemann-Pick Disease, Type C (complications), Niemann-Pick Disease, Type C (genetics), Niemann-Pick Disease, Type C (pathology), Supranuclear Palsy, Progressive (complications), Supranuclear Palsy, Progressive (genetics), Supranuclear Palsy, Progressive (pathology).
MESH :
- chemical , genetics : Carrier Proteins, Membrane Glycoproteins.
- geographic : Brazil.
- complications : Niemann-Pick Disease, Type C, Supranuclear Palsy, Progressive.
- genetics : Niemann-Pick Disease, Type C, Supranuclear Palsy, Progressive.
- pathology : Bone Marrow, Niemann-Pick Disease, Type C, Supranuclear Palsy, Progressive.
- Adolescent, Adult, Female, Humans, Mutation.

DOI: 10.1002/mds.21146
PubMed: 17044092

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: 002A37
to stream PubMed, to step Curation: 002A37
to stream PubMed, to step Checkpoint: 002C26

Links to Exploration step

pubmed:17044092

Le document en format XML

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<author><name sortKey="Godeiro Junior, Clecio" sort="Godeiro Junior, Clecio" uniqKey="Godeiro Junior C" first="Clécio" last="Godeiro-Júnior">Clécio Godeiro-Júnior</name>
</author>
<author><name sortKey="Inaoka, Riguel Jun" sort="Inaoka, Riguel Jun" uniqKey="Inaoka R" first="Riguel Jun" last="Inaoka">Riguel Jun Inaoka</name>
</author>
<author><name sortKey="Barbosa, Marcelo Rocha" sort="Barbosa, Marcelo Rocha" uniqKey="Barbosa M" first="Marcelo Rocha" last="Barbosa">Marcelo Rocha Barbosa</name>
</author>
<author><name sortKey="Silva, Maria Regina Regis" sort="Silva, Maria Regina Regis" uniqKey="Silva M" first="Maria Regina Regis" last="Silva">Maria Regina Regis Silva</name>
</author>
<author><name sortKey="Aguiar, Patricia De Carvalho" sort="Aguiar, Patricia De Carvalho" uniqKey="Aguiar P" first="Patrícia De Carvalho" last="Aguiar">Patrícia De Carvalho Aguiar</name>
</author>
<author><name sortKey="Barsottini, Orlando" sort="Barsottini, Orlando" uniqKey="Barsottini O" first="Orlando" last="Barsottini">Orlando Barsottini</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2006">2006</date>
<idno type="doi">10.1002/mds.21146</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.</title>
<author><name sortKey="Godeiro Junior, Clecio" sort="Godeiro Junior, Clecio" uniqKey="Godeiro Junior C" first="Clécio" last="Godeiro-Júnior">Clécio Godeiro-Júnior</name>
</author>
<author><name sortKey="Inaoka, Riguel Jun" sort="Inaoka, Riguel Jun" uniqKey="Inaoka R" first="Riguel Jun" last="Inaoka">Riguel Jun Inaoka</name>
</author>
<author><name sortKey="Barbosa, Marcelo Rocha" sort="Barbosa, Marcelo Rocha" uniqKey="Barbosa M" first="Marcelo Rocha" last="Barbosa">Marcelo Rocha Barbosa</name>
</author>
<author><name sortKey="Silva, Maria Regina Regis" sort="Silva, Maria Regina Regis" uniqKey="Silva M" first="Maria Regina Regis" last="Silva">Maria Regina Regis Silva</name>
</author>
<author><name sortKey="Aguiar, Patricia De Carvalho" sort="Aguiar, Patricia De Carvalho" uniqKey="Aguiar P" first="Patrícia De Carvalho" last="Aguiar">Patrícia De Carvalho Aguiar</name>
</author>
<author><name sortKey="Barsottini, Orlando" sort="Barsottini, Orlando" uniqKey="Barsottini O" first="Orlando" last="Barsottini">Orlando Barsottini</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2006" type="published">2006</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Bone Marrow (pathology)</term>
<term>Brazil</term>
<term>Carrier Proteins (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Membrane Glycoproteins (genetics)</term>
<term>Mutation</term>
<term>Niemann-Pick Disease, Type C (complications)</term>
<term>Niemann-Pick Disease, Type C (genetics)</term>
<term>Niemann-Pick Disease, Type C (pathology)</term>
<term>Supranuclear Palsy, Progressive (complications)</term>
<term>Supranuclear Palsy, Progressive (genetics)</term>
<term>Supranuclear Palsy, Progressive (pathology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
<term>Membrane Glycoproteins</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Brazil</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Niemann-Pick Disease, Type C</term>
<term>Supranuclear Palsy, Progressive</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Niemann-Pick Disease, Type C</term>
<term>Supranuclear Palsy, Progressive</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Bone Marrow</term>
<term>Niemann-Pick Disease, Type C</term>
<term>Supranuclear Palsy, Progressive</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Female</term>
<term>Humans</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term>
</keywords>
</textClass>
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</teiHeader>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17044092</PMID>
<DateCreated><Year>2006</Year>
<Month>12</Month>
<Day>27</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>02</Month>
<Day>20</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>21</Volume>
<Issue>12</Issue>
<PubDate><Year>2006</Year>
<Month>Dec</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.</ArticleTitle>
<Pagination><MedlinePgn>2270-2</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Godeiro-Júnior</LastName>
<ForeName>Clécio</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Inaoka</LastName>
<ForeName>Riguel Jun</ForeName>
<Initials>RJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Barbosa</LastName>
<ForeName>Marcelo Rocha</ForeName>
<Initials>MR</Initials>
</Author>
<Author ValidYN="Y"><LastName>Silva</LastName>
<ForeName>Maria Regina Regis</ForeName>
<Initials>MR</Initials>
</Author>
<Author ValidYN="Y"><LastName>Aguiar</LastName>
<ForeName>Patrícia de Carvalho</ForeName>
<Initials>Pde C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Barsottini</LastName>
<ForeName>Orlando</ForeName>
<Initials>O</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016422">Letter</PublicationType>
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</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D002352">Carrier Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D008562">Membrane Glycoproteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C106881">NPC1 protein, human</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D001853">Bone Marrow</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D001938">Brazil</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002352">Carrier Proteins</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008562">Membrane Glycoproteins</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009154">Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D052556">Niemann-Pick Disease, Type C</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013494">Supranuclear Palsy, Progressive</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year>
<Month>10</Month>
<Day>18</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2007</Year>
<Month>2</Month>
<Day>21</Day>
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<PubMedPubDate PubStatus="entrez"><Year>2006</Year>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21146</ArticleId>
<ArticleId IdType="pubmed">17044092</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list></list>
<tree><noCountry><name sortKey="Aguiar, Patricia De Carvalho" sort="Aguiar, Patricia De Carvalho" uniqKey="Aguiar P" first="Patrícia De Carvalho" last="Aguiar">Patrícia De Carvalho Aguiar</name>
<name sortKey="Barbosa, Marcelo Rocha" sort="Barbosa, Marcelo Rocha" uniqKey="Barbosa M" first="Marcelo Rocha" last="Barbosa">Marcelo Rocha Barbosa</name>
<name sortKey="Barsottini, Orlando" sort="Barsottini, Orlando" uniqKey="Barsottini O" first="Orlando" last="Barsottini">Orlando Barsottini</name>
<name sortKey="Godeiro Junior, Clecio" sort="Godeiro Junior, Clecio" uniqKey="Godeiro Junior C" first="Clécio" last="Godeiro-Júnior">Clécio Godeiro-Júnior</name>
<name sortKey="Inaoka, Riguel Jun" sort="Inaoka, Riguel Jun" uniqKey="Inaoka R" first="Riguel Jun" last="Inaoka">Riguel Jun Inaoka</name>
<name sortKey="Silva, Maria Regina Regis" sort="Silva, Maria Regina Regis" uniqKey="Silva M" first="Maria Regina Regis" last="Silva">Maria Regina Regis Silva</name>
</noCountry>
</tree>
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</record>

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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.

Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.

Source :

Descripteurs français

English descriptors

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki