MovDisordV3, Main, Exploration, bibRecord, 002D17

New mutation in the non‐gigantic exon of SACS in Japanese siblings

Identifieur interne : 002D17 ( Main/Exploration ); précédent : 002D16; suivant : 002D18

New mutation in the non‐gigantic exon of SACS in Japanese siblings

Auteurs : Yuhei Takado [Japon] ; Kenju Hara [Japon] ; Takayoshi Shimohata [Japon] ; Susumu Tokiguchi [Japon] ; Osamu Onodera [Japon] ; Masatoyo Nishizawa [Japon]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-04-15.

RBID : ISTEX:E9E673D3491A164D111BCC46FEC0CCA30F623E67

English descriptors

KwdEn :
- Adult, Amino Acid Substitution (genetics), Atrophy, Cerebellum (pathology), Chromosome Aberrations, Consanguinity, Exons (genetics), Female, Gait Ataxia (diagnosis), Gait Ataxia (genetics), Genes, Recessive, Heat-Shock Proteins (genetics), Homozygote, Humans, Leucine (genetics), Male, Middle Aged, Mutation (genetics), Phenylalanine (genetics), Sequence Analysis, DNA, Siblings.
MESH :
- chemical , genetics : Heat-Shock Proteins, Leucine, Phenylalanine.
- diagnosis : Gait Ataxia.
- genetics : Amino Acid Substitution, Exons, Gait Ataxia, Mutation.
- pathology : Cerebellum.
- Adult, Atrophy, Chromosome Aberrations, Consanguinity, Female, Genes, Recessive, Homozygote, Humans, Male, Middle Aged, Sequence Analysis, DNA, Siblings.

Url:

https://api.istex.fr/document/E9E673D3491A164D111BCC46FEC0CCA30F623E67/fulltext/pdf

DOI: 10.1002/mds.21365

Affiliations:

Japon

Le document en format XML

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<author><name sortKey="Takado, Yuhei" sort="Takado, Yuhei" uniqKey="Takado Y" first="Yuhei" last="Takado">Yuhei Takado</name>
</author>
<author><name sortKey="Hara, Kenju" sort="Hara, Kenju" uniqKey="Hara K" first="Kenju" last="Hara">Kenju Hara</name>
</author>
<author><name sortKey="Shimohata, Takayoshi" sort="Shimohata, Takayoshi" uniqKey="Shimohata T" first="Takayoshi" last="Shimohata">Takayoshi Shimohata</name>
</author>
<author><name sortKey="Tokiguchi, Susumu" sort="Tokiguchi, Susumu" uniqKey="Tokiguchi S" first="Susumu" last="Tokiguchi">Susumu Tokiguchi</name>
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<author><name sortKey="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name>
</author>
<author><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name>
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<author><name sortKey="Hara, Kenju" sort="Hara, Kenju" uniqKey="Hara K" first="Kenju" last="Hara">Kenju Hara</name>
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<author><name sortKey="Tokiguchi, Susumu" sort="Tokiguchi, Susumu" uniqKey="Tokiguchi S" first="Susumu" last="Tokiguchi">Susumu Tokiguchi</name>
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<author><name sortKey="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name>
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<author><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name>
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<series><title level="j">Movement Disorders</title>
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<term>Cerebellum (pathology)</term>
<term>Chromosome Aberrations</term>
<term>Consanguinity</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gait Ataxia (diagnosis)</term>
<term>Gait Ataxia (genetics)</term>
<term>Genes, Recessive</term>
<term>Heat-Shock Proteins (genetics)</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Leucine (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Phenylalanine (genetics)</term>
<term>Sequence Analysis, DNA</term>
<term>Siblings</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Heat-Shock Proteins</term>
<term>Leucine</term>
<term>Phenylalanine</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gait Ataxia</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term>
<term>Exons</term>
<term>Gait Ataxia</term>
<term>Mutation</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellum</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Atrophy</term>
<term>Chromosome Aberrations</term>
<term>Consanguinity</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
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<name sortKey="Hara, Kenju" sort="Hara, Kenju" uniqKey="Hara K" first="Kenju" last="Hara">Kenju Hara</name>
<name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name>
<name sortKey="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name>
<name sortKey="Shimohata, Takayoshi" sort="Shimohata, Takayoshi" uniqKey="Shimohata T" first="Takayoshi" last="Shimohata">Takayoshi Shimohata</name>
<name sortKey="Tokiguchi, Susumu" sort="Tokiguchi, Susumu" uniqKey="Tokiguchi S" first="Susumu" last="Tokiguchi">Susumu Tokiguchi</name>
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Movement Disorders (revue)

New mutation in the non‐gigantic exon of SACS in Japanese siblings

New mutation in the non‐gigantic exon of SACS in Japanese siblings

Source :

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.