(Q28280248)

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Cumulative risks of developing extrapyramidal signs, psychosis, or myoclonus in the course of Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

A presenilin 1 R278I mutation presenting with language impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Cotton wool plaques in non-familial late-onset Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Early-onset Alzheimer's disease in 2 large Belgian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Modulating processes within the central nervous system is central to therapeutic control of multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

21 January 2018

12 December 2020

Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-005-0019-5

Primary motor cortex involvement in Alzheimer disease.

21 January 2018

1 reference

12 December 2020

Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred

1 reference

12 December 2020

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

1 reference

12 December 2020

Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families

1 reference

12 December 2020

Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy

1 reference

12 December 2020

One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease

1 reference

12 December 2020

Variable phenotype of Alzheimer's disease with spastic paraparesis.

1 reference

12 December 2020

Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description.

1 reference

12 December 2020

Increased Abeta42(43) from cell lines expressing presenilin 1 mutations.

1 reference

12 December 2020

A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization

1 reference

12 December 2020

APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease.

1 reference

12 December 2020

Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques.

1 reference

12 December 2020

Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene

1 reference

12 December 2020

A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.

1 reference

12 December 2020

Genotype-phenotype correlation in early-onset Alzheimer disease with presenilin 1 gene mutations.

1 reference

12 December 2020

Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

1 reference

12 December 2020

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis

1 reference

12 December 2020

The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.

1 reference

12 December 2020

Alzheimer disease PS-1 exon 9 deletion defined.

1 reference

12 December 2020

F175S change and a novel polymorphism in presenilin-1 gene in late-onset familial Alzheimer's disease

1 reference

12 December 2020

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation

1 reference

12 December 2020

Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.

1 reference

12 December 2020

Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).

1 reference

12 December 2020

Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group

1 reference

12 December 2020

The natural history of Alzheimer disease: a longitudinal presymptomatic and symptomatic study of a familial cohort.

1 reference

12 December 2020

Familial Alzheimer's disease genes in Japanese.

1 reference

12 December 2020

A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia.

1 reference

12 December 2020

Familial Alzheimer's disease: site of mutation influences clinical phenotype.

1 reference

12 December 2020

Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.

1 reference

12 December 2020

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

1 reference

12 December 2020

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes

1 reference

12 December 2020

CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related to epilepsy.

1 reference

12 December 2020

Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43).

1 reference

12 December 2020

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

1 reference

12 December 2020

Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the mild cognitive impairment stage of Alzheimer's disease

1 reference

12 December 2020

Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefe

1 reference

12 December 2020

Genotype-phenotype analysis in early-onset Alzheimer's disease due to presenilin-1 mutations at codon 139.

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

1 reference

12 December 2020

Posterior cortical atrophy: clinical characteristics and differences compared to Alzheimer's disease.

1 reference

12 December 2020

A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease

1 reference

12 December 2020

A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years

1 reference

12 December 2020

Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.

1 reference

12 December 2020

A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy.

1 reference

12 December 2020

Familial Alzheimer disease: a large, multigeneration German kindred.

1 reference

12 December 2020

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.

1 reference

12 December 2020

Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139.

1 reference

12 December 2020

Increased A beta 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene.

1 reference

12 December 2020

Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation.

1 reference

12 December 2020

Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region.

1 reference

12 December 2020

Neuropsychological functions in variant Alzheimer's disease with spastic paraparesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Age of onset in familial early onset Alzheimer's disease correlates with genetic aetiology.

1 reference

12 December 2020

Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

1 reference

12 December 2020

Notch and Presenilin: regulated intramembrane proteolysis links development and degeneration.

1 reference

12 December 2020

Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?

1 reference

12 December 2020

A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease.

1 reference

12 December 2020

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

1 reference

12 December 2020

Familial frontotemporal dementia associated with a novel presenilin-1 mutation

1 reference

12 December 2020

Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease

1 reference

12 December 2020

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

1 reference

12 December 2020

Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.

1 reference

12 December 2020

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

1 reference

12 December 2020

A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis

1 reference

12 December 2020

Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.

1 reference

12 December 2020

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease

1 reference

12 December 2020

Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.

1 reference

12 December 2020

A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion.

1 reference

12 December 2020

A Polish pedigree with Alzheimer's disease determined by a novel mutation in exon 12 of the presenilin 1 gene: clinical and molecular characterization.

1 reference

12 December 2020

Neuropathological stageing of Alzheimer-related changes

1 reference

12 December 2020

Early‐onset Alzheimer's disease with presenilin‐1 M139V mutation: clinical, neuropsychological and neuropathological study

1 reference

12 December 2020

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

1 reference

12 December 2020

Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein

1 reference

12 December 2020

Sequence analysis of presenilin-1 gene mutation in Japanese Alzheimer's disease patients.

1 reference

12 December 2020

Presenilin mutations in Alzheimer's disease

1 reference

12 December 2020

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

1 reference

12 December 2020

Familial Alzheimer's disease associated with S182 codon 286 mutation

1 reference

12 December 2020

A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.

1 reference

12 December 2020

Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.

1 reference

12 December 2020

Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.

1 reference

12 December 2020

Neuropsychological profile of a large kindred with familial Alzheimer's disease caused by the E280A single presenilin-1 mutation.

1 reference

12 December 2020

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

1 reference

12 December 2020

A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.

1 reference

12 December 2020

Mutation analysis of presenillin 1 gene in Alzheimer's disease.

1 reference

12 December 2020

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland

1 reference

12 December 2020

Alzheimer disease gamma-secretase: a complex story of GxGD-type presenilin proteases

1 reference

12 December 2020

Pick bodies in a family with presenilin-1 Alzheimer's disease

1 reference

12 December 2020

The cerebellum in Alzheimer's disease

1 reference

12 December 2020

Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's Disease

1 reference

12 December 2020

A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5.

1 reference

12 December 2020

Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism.

1 reference

12 December 2020

Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor.

1 reference

12 December 2020

E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles

1 reference

12 December 2020

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.

1 reference

12 December 2020

A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease

1 reference

12 December 2020

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.

1 reference

12 December 2020

Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1

1 reference

12 December 2020

A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.

1 reference

12 December 2020

Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Alzheimer's disease with spastic paresis and cotton wool type plaques

1 reference

12 December 2020

Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients.

1 reference

12 December 2020

A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch.

1 reference

12 December 2020

Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation

1 reference

12 December 2020

A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.

1 reference

12 December 2020

Missense mutation of S182 gene in Japanese familial Alzheimer's disease

1 reference

12 December 2020

Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain.

1 reference

12 December 2020

Alzheimer's disease: targets for drug development

1 reference

12 December 2020

Evidence that Abeta42 plasma levels in presenilin-1 mutation carriers do not allow for prediction of their clinical phenotype

1 reference

12 December 2020

DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations

1 reference

12 December 2020

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

1 reference

12 December 2020

New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.

1 reference

12 December 2020

A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.

1 reference

12 December 2020

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

1 reference

12 December 2020

Alzheimer's disease due to an intronic presenilin-1 (PSEN1 intron 4) mutation: A clinicopathological study.

1 reference

12 December 2020

A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques

1 reference

12 December 2020

Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.

1 reference

12 December 2020

A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum

1 reference

12 December 2020

Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease.

1 reference

12 December 2020

The biological and pathological function of the presenilin-1 Deltaexon 9 mutation is independent of its defect to undergo proteolytic processing

1 reference

12 December 2020

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

1 reference

12 December 2020

Pathological heterogeneity of clinically diagnosed corticobasal degeneration

1 reference

12 December 2020

A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.

1 reference

12 December 2020

γ-Secretase is a membrane protein complex comprised of presenilin, nicastrin, aph-1, and pen-2

1 reference

12 December 2020

Misserise mutation of S182 gene in Italian families with early-onset Alzheimer's disease

1 reference

12 December 2020

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

1 reference

12 December 2020

Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease

1 reference

12 December 2020

The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.

1 reference

12 December 2020

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

1 reference

12 December 2020

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

1 reference

12 December 2020

Wide range of disease onset in a family with Alzheimer disease and a His163Tyr mutation in the presenilin-1 gene.

1 reference

12 December 2020

Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease

1 reference

12 December 2020

Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation.

1 reference

12 December 2020

Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation

1 reference

12 December 2020

A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.

1 reference

12 December 2020

A presenilin 1 mutation in an early onset Alzheimer's family: no association with presenilin 2.

1 reference

12 December 2020

The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.

1 reference

12 December 2020

A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease

1 reference

12 December 2020

A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease.

1 reference

12 December 2020

Familial Alzheimer's chromosome 14 mutations.

1 reference

12 December 2020

A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease.

1 reference

12 December 2020

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

1 reference

12 December 2020

Neuropsychological profiles of familial Alzheimer's disease associated with mutations in the presenilin 1 and amyloid precursor protein genes

1 reference

12 December 2020

Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.

1 reference

12 December 2020