Molecular background of EPM1-Unverricht-Lundborg disease.
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The Role of Stefin B in Neuro-inflammationInnate Immune Response in Brain, NF-Kappa B Signaling and CystatinsCystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1Interaction between oligomers of stefin B and amyloid-beta in vitro and in cells.Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficitsA role for stefin B (cystatin B) in inflammation and endotoxemia.Genetics of epilepsy and relevance to current practice.Cystatins in immune system.Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review.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.Intracellular aggregation of human stefin B: confocal and electron microscopy study.The lysosome among targets of metformin: new anti-inflammatory uses for an old drug?Epileptogenic potential of mefloquine chemoprophylaxis: a pathogenic hypothesis.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.Proline Residues as Switches in Conformational Changes Leading to Amyloid Fibril FormationSeverer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.Abnormal ERD/ERS but unaffected BOLD response in patients with Unverricht-Lundborg disease during index extension: a simultaneous EEG-fMRI study.Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in KoreaCorrection of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy
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P2860
Molecular background of EPM1-Unverricht-Lundborg disease.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Molecular background of EPM1-Unverricht-Lundborg disease.
@en
Molecular background of EPM1-Unverricht-Lundborg disease.
@nl
type
label
Molecular background of EPM1-Unverricht-Lundborg disease.
@en
Molecular background of EPM1-Unverricht-Lundborg disease.
@nl
prefLabel
Molecular background of EPM1-Unverricht-Lundborg disease.
@en
Molecular background of EPM1-Unverricht-Lundborg disease.
@nl
P2860
P1433
P1476
Molecular background of EPM1-Unverricht-Lundborg disease.
@en
P2093
Outi Kopra
Tarja Joensuu
P2860
P304
P356
10.1111/J.1528-1167.2007.01422.X
P577
2007-11-19T00:00:00Z