High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
about
Prion diseases: immunotargets and therapyMutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disordersCurrent and future implications of basic and translational research on amyloid-β peptide production and removal pathwaysCellular phenotyping of secretory and nuclear prion proteins associated with inherited prion diseasesCellular prion protein regulates beta-secretase cleavage of the Alzheimer's amyloid precursor protein.Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.Evidence for a pathogenic role of different mutations at codon 188 of PRNPThe genetics of dementia.Genetic studies in human prion diseases.Reexamining Alzheimer's disease: evidence for a protective role for amyloid-beta protein precursor and amyloid-betaA plausible function of the prion protein: conjectures and a hypothesis.Phenotypical difference of amyloid precursor protein (APP) V717L mutation in Japanese family.Disordered proteins in dementia.Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.Mutations of presenilin genes in dilated cardiomyopathy and heart failure.Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.Cerebral amyloidosis: amyloid subunits, mutants and phenotypes.Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's diseaseAPP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.Genetics, transcriptomics, and proteomics of Alzheimer's diseaseQuantifying prion disease penetrance using large population control cohortsIdentification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.Alzheimer disease pathology as a host responseEvidence for prion-like mechanisms in several neurodegenerative diseases: potential implications for immunotherapyHuman Prion disease with a T188K mutation in Chinese: a case report.A case of dementia with PRNP D178Ncis-129M and no insomnia.Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral NeuropathyBinding of bovine T194A PrP(C) by PrP(Sc)-specific antibodies: potential implications for immunotherapy of familial prion diseases.Genetics of dementia: update and guidelines for the clinician.A new prion disease: relationship with central and peripheral amyloidoses.Hereditary Human Prion Diseases: an Update.Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study.PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China.The protonation state of histidine 111 regulates the aggregation of the evolutionary most conserved region of the human prion protein.The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease.Conserved amyloid core structure of stop mutants of the human prion protein.Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia.Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.
P2860
Q26741258-573BD970-B41B-4665-A4F1-93C13F6144BBQ26800286-1911E325-A961-49B9-9CCB-FB7FAF4F252DQ28081678-962BB9BB-AEBD-48EF-B16A-014ED1CA14BFQ28590199-CC07E8EF-F897-4C9F-8879-19A49D138AFDQ30032293-9E9D8D42-38F0-42E1-B100-57E81F0A4BD8Q30483865-171F420E-31AE-436C-917B-22D78937E0CFQ33334421-66DFEBEC-0306-4295-A2B0-14185071D9BAQ33626351-FC526287-3230-4C17-919B-08FEE2EE239DQ33627593-47693147-CD7C-4DC4-BABD-2A4CB2A12FF2Q34009618-3F4A0ABA-5789-4965-B458-EAEC2DC9FDD9Q34243604-E851FC6B-3B2F-42AF-8C23-FDC263FE6553Q34306226-B5EF5D19-5B72-4E57-8CAC-DA5A6FCB3C22Q34952164-2C39F1FF-8A13-4FE3-963D-051CCD5D0044Q35043994-CC7FC481-1298-4BAF-836A-C2720C666A7FQ35105917-C4127C46-88F2-439B-A5BE-E8A3B2DD56A3Q35221755-FE492793-C851-4644-B475-4D07A950537BQ36072627-8D02D784-0F2C-4D93-9823-559619B9DDE7Q36136387-19ABCAC6-EEF4-4FDE-8D5D-A39851244DEFQ36226675-3FC3762A-E400-45DB-B2BE-4B5D756F8945Q36325304-A6A78576-9CB0-4154-94BA-569D8C43CAA4Q36466472-4D6C48BA-5C2C-44BF-8540-94012AC663B2Q36639581-E8045FBD-663A-4F7C-B52E-01BBE7EE92D4Q36854154-FB7BEFF7-3352-40B7-9358-5BE992CBD12BQ36944491-D89BE058-C0B2-4C73-B986-3A342652CD3BQ37180666-1AAADE8B-7518-485A-A4CF-BE289DEFFD2CQ37280507-A56D4CEB-7221-425E-A788-E6228DFE10ECQ37338309-FDD73A65-6E7E-49BE-83EF-5DDD208EE93DQ37456261-6B3E31C6-8939-4381-A070-737EA4F74176Q37491711-073D500A-9B5B-40F8-A62C-10693DBC92FBQ37523094-B5B86441-BBC6-4F21-AFBC-1F9993EC7CC7Q38027808-2BE004F2-4A6F-493B-AFED-EBF712B9C29AQ38333529-111168FA-577B-442D-BE79-62360201838AQ38871224-3D3DEA67-BAD8-475F-95F6-F638556131ACQ39563147-DF9F61CE-4506-41B9-AD15-A5863F0136E9Q40100862-7370823A-0342-4649-AFD1-F6E545FF2550Q40672921-474140B3-89F4-4628-AA13-0F8C3C82B9F1Q41887222-E1F70DDB-FB03-4796-B436-C135EDDAE96DQ41893320-B657B1FB-6A85-4395-9595-5C9898862D6DQ42696791-9B6E6E20-A19B-4FFD-B762-ACE0ED7E75ADQ42735789-19913C32-5836-4E20-9BF1-3E7CE09254D7
P2860
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
description
2000 nî lūn-bûn
@nan
2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
High prevalence of pathogenic ...... alyses of four different genes
@ast
High prevalence of pathogenic ...... alyses of four different genes
@en
High prevalence of pathogenic ...... alyses of four different genes
@nl
type
label
High prevalence of pathogenic ...... alyses of four different genes
@ast
High prevalence of pathogenic ...... alyses of four different genes
@en
High prevalence of pathogenic ...... alyses of four different genes
@nl
prefLabel
High prevalence of pathogenic ...... alyses of four different genes
@ast
High prevalence of pathogenic ...... alyses of four different genes
@en
High prevalence of pathogenic ...... alyses of four different genes
@nl
P2093
P2860
P356
P1476
High prevalence of pathogenic ...... alyses of four different genes
@en
P2093
A Alberici
J Marksteiner
R M Nitsch
T Müller-Thomsen
P2860
P304
P356
10.1086/302702
P407
P577
2000-01-01T00:00:00Z