(Q36901180)

17 August 2017

Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation (English)

1 reference

17 August 2017

E Rubino

4

0 references

Ekaterina Rogaeva

30

object named as

E Rogaeva

1 reference

17 August 2017

G Giaccone

32

1 reference

ORCID Public Data File 2021

author name string

A C Bruni

1

1 reference

17 August 2017

L Bernardi

2

1 reference

17 August 2017

R Colao

3

1 reference

17 August 2017

N Smirne

5

1 reference

17 August 2017

F Frangipane

6

1 reference

17 August 2017

B Terni

7

1 reference

17 August 2017

S A M Curcio

8

1 reference

17 August 2017

M Mirabelli

9

1 reference

17 August 2017

A Clodomiro

10

1 reference

17 August 2017

R Di Lorenzo

11

1 reference

17 August 2017

R Maletta

12

1 reference

17 August 2017

M Anfossi

13

1 reference

17 August 2017

M Gallo

14

1 reference

17 August 2017

S Geracitano

15

1 reference

17 August 2017

C Tomaino

16

1 reference

17 August 2017

M G Muraca

17

1 reference

17 August 2017

A Leotta

18

1 reference

17 August 2017

S G Lio

19

1 reference

17 August 2017

L Pinessi

20

1 reference

17 August 2017

I Rainero

21

1 reference

17 August 2017

S Sorbi

22

1 reference

17 August 2017

L Nee

23

1 reference

17 August 2017

G Milan

24

1 reference

17 August 2017

S Pappatà

25

1 reference

17 August 2017

A Postiglione

26

1 reference

17 August 2017

N Abbamondi

27

1 reference

17 August 2017

G Forloni

28

1 reference

17 August 2017

P St George Hyslop

29

1 reference

17 August 2017

O Bugiani

31

1 reference

17 August 2017

J F Foncin

33

1 reference

17 August 2017

M G Spillantini

34

1 reference

17 August 2017

G Puccio

35

1 reference

17 August 2017

language of work or name

English

0 references

publication date

17 February 2010

1 reference

17 August 2017

1 reference

17 August 2017

74

1 reference

17 August 2017

10

1 reference

17 August 2017

798-806

1 reference

Frontotemporal lobar degeneration: current concepts in the light of recent advances

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Apathy and the functional anatomy of the prefrontal cortex-basal ganglia circuits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

FAMILIAL ALZHEIMER'S DISEASE

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

The Mental Deterioration Battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The Group for the Standardization of the Mental Deterioration Battery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Cloning of a gene bearing missense mutations in early onset familial Alzheimer's disease: a Calabrian study.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Frequency of stages of Alzheimer-related lesions in different age categories

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

A new Italian pedigree with early-onset Alzheimer's disease.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

[Alzheimer's presenile dementia transmitted in an extended kindred]

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Novel mutations and repeated findings of mutations in familial Alzheimer disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Familial frontotemporal dementia associated with a novel presenilin-1 mutation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Association of an extended haplotype in the tau gene with progressive supranuclear palsy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Allosteric effects of DNA on transcriptional regulators

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3672006

Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: Genetic and bioinformatic assessment

4 September 2018

1 reference

12 December 2020

Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD

1 reference

12 December 2020

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

1 reference

12 December 2020

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

1 reference

12 December 2020

The power of systematic genealogical study in familial Alzheimer disease

1 reference

12 December 2020

Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups

1 reference

12 December 2020

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

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

10.1212/WNL.0B013E3181D52785

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

20164095

1 reference