(Q75445666)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

early-onset Alzheimer's disease

18 November 2019

main subject

1 reference

1 reference

1 reference

1

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18 November 2019

Beata Borzemska

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Dorota Religa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Jan Ilkowski

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Jacek Kuźnicki

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Maria Barcikowska

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

4

Tomasz Gabryelewicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

11

Anna Barczak

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

12

Elzbieta Łuczywek

1 reference

18 November 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

Sławomira Kotapka-Minc

8

Sławomira Kotapka-Minc

1 reference

18 November 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

Beata Kijanowska-Haładyna

7

Beata Kijanowska-Haładyna

1 reference

18 November 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

Małgorzata Chodakowska-Zebrowska

14

Małgorzata Chodakowska-Zebrowska

1 reference

18 November 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

Bogusław Wasiak

13

Bogusław Wasiak

1 reference

18 November 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

author name string

Maria Styczyńska

2

1 reference

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18 November 2019

Sanne Mikkelsen

9

1 reference

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18 November 2019

Anna Pfeffer

10

1 reference

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18 November 2019

Katarzyna Gustaw

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Jarosław Łaczkowski

16

1 reference

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18 November 2019

Tomasz Sobów

17

1 reference

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18 November 2019

language of work or name

English

0 references

publication date

1 December 2003

1 reference

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18 November 2019

published in

Experimental Neurology

1 reference

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18 November 2019

volume

184

1 reference

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18 November 2019

issue

2

1 reference

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18 November 2019

page(s)

991-996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

18 November 2019

cites work

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Association study of three polymorphisms of TGF-beta1 gene with Alzheimer's disease.

7 January 2021

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No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

7 January 2021

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

7 January 2021

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A simple and efficient method for apolipoprotein E genotype determination

7 January 2021

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Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia

7 January 2021

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Presenilin mutations in Alzheimer's disease

7 January 2021

1 reference

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

7 January 2021

1 reference

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Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

7 January 2021

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Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

7 January 2021

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

7 January 2021

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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

7 January 2021

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Ethical principles and pitfalls of genetic testing for dementia

7 January 2021

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Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?

7 January 2021

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

7 January 2021

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Familial Alzheimer's disease genes in Japanese.

7 January 2021

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

7 January 2021

1 reference

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The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain.

7 January 2021

1 reference

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

7 January 2021

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Aging, memory, and mild cognitive impairment.

7 January 2021

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An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Simultaneous analysis of five genetic risk factors in Polish patients with Alzheimer's disease.

7 January 2021

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Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.

7 January 2021

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Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

7 January 2021

1 reference

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Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression.

7 January 2021

1 reference

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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.

7 January 2021

1 reference

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Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample

7 January 2021

1 reference

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10.1016/S0014-4886(03)00384-4

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14769392%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

1 reference