scholarly article | Q13442814 |
P50 | author | Young Chul Youn | Q57011074 |
Seong Soo A An | Q87002891 | ||
P2093 | author name string | Eva Bagyinszky | |
SangYun Kim | |||
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Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the mild cognitive impairment stage of Alzheimer's disease | Q44193631 | ||
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy. | Q44257207 | ||
Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease. | Q44529071 | ||
A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5. | Q44935952 | ||
A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease. | Q44992349 | ||
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis | Q45056708 | ||
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Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease. | Q45183464 | ||
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A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease | Q46937090 | ||
APOE genotyping: comparison of three methods | Q47306150 | ||
Familial clustering and genetic risk for dementia in a genetically isolated Dutch population | Q47637664 | ||
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Wide range of disease onset in a family with Alzheimer disease and a His163Tyr mutation in the presenilin-1 gene | Q48030153 | ||
A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy | Q48045828 | ||
A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis | Q48098476 | ||
Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu) | Q48160810 | ||
A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis | Q48165924 | ||
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype | Q48168301 | ||
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease | Q48181387 | ||
The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups | Q48214753 | ||
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A novel PSEN1 H163P mutation in a patient with early-onset Alzheimer's disease: clinical, neuroimaging, and neuropathological findings | Q48344184 | ||
Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells. | Q48444545 | ||
Molecular mapping of Alzheimer-type dementia in Down's syndrome. | Q48512105 | ||
Clinical and genetic analysis of a pedigree of a thirty-six-year-old familial Alzheimer's disease patient. | Q48566143 | ||
Public attitudes about genetic testing for Alzheimer's disease. | Q48664461 | ||
Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation. | Q48708074 | ||
A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. | Q48745437 | ||
Clinical picture of a patient with a novel PSEN1 mutation (L424V). | Q48831659 | ||
The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients. | Q48841578 | ||
A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease. | Q49018135 | ||
A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis. | Q49063531 | ||
Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations. | Q49141609 | ||
Genetic association of CTNNA3 with late-onset Alzheimer's disease in females. | Q51739902 | ||
A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features. | Q51808482 | ||
Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation. | Q51951167 | ||
A novel mutation in the PSEN1 gene (L286P) associated with familial early-onset dementia of Alzheimer type and lobar haematomas. | Q51969545 | ||
Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation. | Q52011732 | ||
Variant Alzheimer's disease with spastic paraparesis: clinical characterization. | Q52028288 | ||
Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online. | Q52034904 | ||
Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. | Q52526389 | ||
Familial Alzheimer's chromosome 14 mutations | Q53200554 | ||
Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. | Q53211537 | ||
Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. | Q53217746 | ||
A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years. | Q53221707 | ||
Familial Alzheimer's disease genes in Japanese. | Q53224895 | ||
Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene. | Q53227937 | ||
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). | Q53248539 | ||
Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. | Q53251607 | ||
Genetics of early-onset Alzheimer dementia. | Q53255327 | ||
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. | Q53265419 | ||
A presenilin 1 R278I mutation presenting with language impairment. | Q53265431 | ||
Novel polymorphisms of the amyloid precursor protein (APP) gene in Chinese/Taiwanese patients with Alzheimer's disease. | Q53298803 | ||
Alzheimer disease: multiple causes, multiple effects of apolipoprotein E4, and multiple therapeutic approaches. | Q53302767 | ||
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. | Q53307710 | ||
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. | Q53323149 | ||
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. | Q53329209 | ||
Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE). | Q53331983 | ||
Moving towards early clinical trials for amyloid-targeted therapy in Alzheimer's disease. | Q53338097 | ||
A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease. | Q53339940 | ||
Early onset familial Alzheimer's disease: Mutation frequency in 31 families. | Q53356699 | ||
A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion. | Q53357906 | ||
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease. | Q53361780 | ||
Novel mutations and repeated findings of mutations in familial Alzheimer disease. | Q53369886 | ||
A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia. | Q53391715 | ||
DNMBP is genetically associated with Alzheimer dementia in the Belgian population. | Q53392230 | ||
A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression. | Q53408831 | ||
Functional characterization of novel presenilin-2 variants identified in human breast cancers | Q57419070 | ||
Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease | Q57419118 | ||
A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease | Q57419122 | ||
A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis | Q57419130 | ||
Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families | Q57419135 | ||
Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations | Q59099390 | ||
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I | Q59544020 | ||
Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: Genetic and bioinformatic assessment | Q61952734 | ||
DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations | Q73111330 | ||
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation | Q73230799 | ||
Association between apolipoprotein E polymorphism and Alzheimer's disease in Koreans | Q73336784 | ||
Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis | Q73425524 | ||
Quantitative assessment of apolipoprotein E genotypes by image analysis of PCR-RFLP fragments | Q73503132 | ||
Evaluation of the apo E genotyping kit on the LightCycler | Q73742960 | ||
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene | Q73926114 | ||
Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland | Q75445666 | ||
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online | Q78125786 | ||
Surveyor nuclease-based genotyping of SNPs | Q80219263 | ||
A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease | Q80533400 | ||
Applications of next-generation sequencing technologies in functional genomics | Q29619225 | ||
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. | Q30493972 | ||
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans | Q30540165 | ||
Alzheimer's disease and Down's syndrome. Some recent etiopathogenic data | Q31040297 | ||
Use of genetic variation as biomarkers for Alzheimer's disease | Q33640956 | ||
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group. | Q33681141 | ||
Fine mapping of the -T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigrees | Q33719301 | ||
High-throughput discovery of rare insertions and deletions in large cohorts | Q33735593 | ||
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP | Q33771562 | ||
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum | Q33870467 | ||
Apolipoprotein J (clusterin) and Alzheimer's disease | Q33998687 | ||
Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production | Q34030951 | ||
A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. | Q34103325 | ||
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes | Q34146052 | ||
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene | Q34303468 | ||
Mutation detection using Surveyor nuclease | Q34314124 | ||
Genetic risk factors in familial Alzheimer's disease | Q34394232 | ||
Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects. | Q34416995 | ||
Association between GAB2 haplotype and higher glucose metabolism in Alzheimer's disease-affected brain regions in cognitively normal APOEε4 carriers | Q34440468 | ||
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation | Q34555722 | ||
Genetics of Alzheimer disease | Q34604101 | ||
Genetics of Alzheimer's disease: a centennial review | Q34656812 | ||
Alzheimer's disease with spastic paresis and cotton wool type plaques | Q34976274 | ||
Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases | Q35195656 | ||
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region | Q35196153 | ||
APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease | Q35196742 | ||
Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy | Q35454948 | ||
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. | Q35465346 | ||
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease | Q35481648 | ||
Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease | Q35484526 | ||
Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease | Q35839636 | ||
Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease | Q36226675 | ||
Locus-specific mutation databases for neurodegenerative brain diseases | Q36302037 | ||
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort | Q36424866 | ||
Apolipoprotein (apo) E4 and Alzheimer's disease: unique conformational and biophysical properties of apoE4 can modulate neuropathology | Q36546467 | ||
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci | Q36625970 | ||
The TREM receptor family and signal integration | Q36655903 | ||
Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease. | Q36854154 | ||
Next-generation sequencing: applications beyond genomes | Q36928719 | ||
CD33 Alzheimer's disease locus: altered monocyte function and amyloid biology | Q36990425 | ||
Association between SORL1 and Alzheimer's disease in a genome-wide study | Q37074629 | ||
Genetic aspects of Alzheimer disease | Q37139063 | ||
PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA | Q37144797 | ||
Molecular genetics of Alzheimer's disease: an update | Q37209771 | ||
Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques | Q37305761 | ||
Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity | Q37357625 | ||
Disclosure of APOE genotype for risk of Alzheimer's disease | Q37423417 | ||
Roles of ATP-binding cassette transporter A7 in cholesterol homeostasis and host defense system | Q37822630 | ||
Understanding the pathogenesis of Alzheimer's disease: will RNA-Seq realize the promise of transcriptomics? | Q37822837 | ||
Recent Patents and Advances in the Next-Generation Sequencing Technologies | Q37895125 | ||
Complement receptor 1 (CR1) and Alzheimer's disease | Q37917233 | ||
Towards unveiling the genetics of neurodegenerative diseases | Q37977844 | ||
Genetic insights in Alzheimer's disease | Q38067204 | ||
Apolipoprotein E genotyping by multiplex tetra-primer amplification refractory mutation system PCR in single reaction tube | Q38299844 | ||
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques | Q40238153 | ||
Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment. | Q40242218 | ||
A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations | Q40581491 | ||
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations | Q40689416 | ||
Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation | Q40769562 | ||
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease | Q41263613 | ||
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. | Q42635301 | ||
A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2. | Q42690892 | ||
Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation. | Q42735789 | ||
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile). | Q43027781 | ||
Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update | Q43073474 | ||
Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification | Q43137864 | ||
A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease | Q43158570 | ||
A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF. | Q43242655 | ||
A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease | Q43255757 | ||
Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). | Q43430558 | ||
Identification and differential expression of a novel alternative splice isoform of the beta A4 amyloid precursor protein (APP) mRNA in leukocytes and brain microglial cells. | Q43509722 | ||
P275 | copyright license | Creative Commons Attribution-NonCommercial 3.0 Unported | Q18810331 |
P6216 | copyright status | copyrighted | Q50423863 |
P921 | main subject | Alzheimer's disease | Q11081 |
P304 | page(s) | 535-551 | |
P577 | publication date | 2014-04-01 | |
P1433 | published in | Clinical Interventions in Aging | Q5133768 |
P1476 | title | The genetics of Alzheimer's disease | |
P478 | volume | 9 |
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