MovDisordV3, Main, Exploration, bibRecord, 003334

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

Identifieur interne : 003334 ( Main/Exploration ); précédent : 003333; suivant : 003335

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

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

Source :

Movement Disorders [ 0885-3185 ] ; 2006-12.

RBID : ISTEX:0A38CD4D2FC68741DA376850F2668A4D32D779A3

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.

Url:

https://api.istex.fr/document/0A38CD4D2FC68741DA376850F2668A4D32D779A3/fulltext/pdf

DOI: 10.1002/mds.21146

Affiliations:

Brésil

Le document en format XML

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<author><name sortKey="Godeiro Nior, Clecio" sort="Godeiro Nior, Clecio" uniqKey="Godeiro Nior C" first="Clécio" last="Godeiro-Júnior">Clécio Godeiro-Júnior</name>
</author>
<author><name sortKey="Jun Inaoka, Riguel" sort="Jun Inaoka, Riguel" uniqKey="Jun Inaoka R" first="Riguel" last="Jun Inaoka">Riguel Jun Inaoka</name>
</author>
<author><name sortKey="Rocha Barbosa, Marcelo" sort="Rocha Barbosa, Marcelo" uniqKey="Rocha Barbosa M" first="Marcelo" last="Rocha Barbosa">Marcelo Rocha Barbosa</name>
</author>
<author><name sortKey="Regis Silva, Maria Regina" sort="Regis Silva, Maria Regina" uniqKey="Regis Silva M" first="Maria Regina" last="Regis Silva">Maria Regina Regis Silva</name>
</author>
<author><name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patrícia" last="De Carvalho 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>
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<author><name sortKey="Jun Inaoka, Riguel" sort="Jun Inaoka, Riguel" uniqKey="Jun Inaoka R" first="Riguel" last="Jun Inaoka">Riguel Jun Inaoka</name>
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<author><name sortKey="Rocha Barbosa, Marcelo" sort="Rocha Barbosa, Marcelo" uniqKey="Rocha Barbosa M" first="Marcelo" last="Rocha Barbosa">Marcelo Rocha Barbosa</name>
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<wicri:regionArea>Department of Hematology and Hemotherapy, Universidade Federal de São Paulo São Paulo</wicri:regionArea>
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<author><name sortKey="Regis Silva, Maria Regina" sort="Regis Silva, Maria Regina" uniqKey="Regis Silva M" first="Maria Regina" last="Regis Silva">Maria Regina Regis Silva</name>
<affiliation wicri:level="1"><country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Pathology, Universidade Federal de São Paulo São Paulo</wicri:regionArea>
<wicri:noRegion>Universidade Federal de São Paulo São Paulo</wicri:noRegion>
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<author><name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patrícia" last="De Carvalho Aguiar">Patrícia De Carvalho Aguiar</name>
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<author><name sortKey="Barsottini, Orlando" sort="Barsottini, Orlando" uniqKey="Barsottini O" first="Orlando" last="Barsottini">Orlando Barsottini</name>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
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<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>
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<term>Membrane Glycoproteins</term>
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<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Niemann-Pick Disease, Type C</term>
<term>Supranuclear Palsy, Progressive</term>
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<term>Supranuclear Palsy, Progressive</term>
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<term>Niemann-Pick Disease, Type C</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
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<term>Mutation</term>
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<name sortKey="Barsottini, Orlando" sort="Barsottini, Orlando" uniqKey="Barsottini O" first="Orlando" last="Barsottini">Orlando Barsottini</name>
<name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patrícia" last="De Carvalho Aguiar">Patrícia De Carvalho Aguiar</name>
<name sortKey="Jun Inaoka, Riguel" sort="Jun Inaoka, Riguel" uniqKey="Jun Inaoka R" first="Riguel" last="Jun Inaoka">Riguel Jun Inaoka</name>
<name sortKey="Regis Silva, Maria Regina" sort="Regis Silva, Maria Regina" uniqKey="Regis Silva M" first="Maria Regina" last="Regis Silva">Maria Regina Regis Silva</name>
<name sortKey="Rocha Barbosa, Marcelo" sort="Rocha Barbosa, Marcelo" uniqKey="Rocha Barbosa M" first="Marcelo" last="Rocha Barbosa">Marcelo Rocha Barbosa</name>
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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...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	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.