Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
about
Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene familyNovel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patientClinical picture of EPM1-Unverricht-Lundborg diseaseCharacterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTBCystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1Genetics and epilepsy.Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases.Progressive myoclonus epilepsy of Unverricht-Lundborg type.The unstable trinucleotide repeat story of major psychosis.Expansions and contractions in a tandem repeat induced by double-strand break repair.Cystatin C rescues degenerating neurons in a cystatin B-knockout mouse model of progressive myoclonus epilepsy.A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.Protective mechanisms by cystatin C in neurodegenerative diseases.Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions3D texture analysis reveals imperceptible MRI textural alterations in the thalamus and putamen in progressive myoclonic epilepsy type 1, EPM1.Molecular background of progressive myoclonus epilepsy.Genetics of inherited human epilepsiesMultiple pathways regulate minisatellite stability during stationary phase in yeast.Zinc regulates the stability of repetitive minisatellite DNA tracts during stationary phase.A Whole Genome Screen for Minisatellite Stability Genes in Stationary-Phase Yeast CellsMolecular background of EPM1-Unverricht-Lundborg disease.Cystatin C in aging and in Alzheimer's disease.Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients.Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.RAD1 controls the meiotic expansion of the human HRAS1 minisatellite in Saccharomyces cerevisiae.Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.Length and sequence heterozygosity differentially affect HRAS1 minisatellite stability during meiosis in yeast.Role of cystatin C in neuroprotection and its therapeutic implications.A shared haplotype indicates a founder event in Unverricht-Lundborg disease patients from Serbia.The large loop repair and mismatch repair pathways of Saccharomyces cerevisiae act on distinct substrates during meiosis.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.Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease.Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1.Modeling human epilepsies in mice.Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.
P2860
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P2860
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
description
1997 nî lūn-bûn
@nan
1997 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մարտին հրատարակված գիտական հոդված
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1997年の論文
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1997年学术文章
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1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
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name
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@ast
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@en
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@nl
type
label
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@ast
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@en
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@nl
prefLabel
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@ast
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@en
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@nl
P2093
P2860
P356
P1433
P1476
Unstable insertion in the 5' f ...... yoclonus epilepsy type 1, EPM1
@en
P2093
Andermann E
Andermann F
Chrétien N
Cochius JI
Kälviäinen R
Lafrenière RG
P2860
P2888
P304
P356
10.1038/NG0397-298
P407
P577
1997-03-01T00:00:00Z