Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
about
Progressive myoclonic epilepsies: definitive and still undetermined causes.Genetics of epilepsy and relevance to current practice.A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.Putative alternative functions of human stefin B (cystatin B): binding to amyloid-beta, membranes, and copper.Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy
P2860
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P2860
Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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2011年學術文章
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name
Severer phenotype in Unverrich ...... C>T mutation in the CSTB gene.
@en
Severer phenotype in Unverricht-Lundborg disease
@nl
type
label
Severer phenotype in Unverrich ...... C>T mutation in the CSTB gene.
@en
Severer phenotype in Unverricht-Lundborg disease
@nl
prefLabel
Severer phenotype in Unverrich ...... C>T mutation in the CSTB gene.
@en
Severer phenotype in Unverricht-Lundborg disease
@nl
P2093
P2860
P356
P1476
Severer phenotype in Unverrich ...... C>T mutation in the CSTB gene.
@en
P2093
Esa Mervaala
Jelena Hyppönen
Kai Eriksson
Marja Aikiä
Päivi Koskenkorva
Reetta Kälviäinen
Ritva Vanninen
Tuula Kiviranta
P2860
P304
P356
10.1159/000323470
P577
2011-07-15T00:00:00Z