Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism. (Q53392174)

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4 January 2020

title

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism (English)

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7

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Nicoletta Smirne

10

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3

Maria Anfossi

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6

Gianfranco Puccio

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1

Livia Bernardi

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4 January 2020

author name string

Carmine Tomaino

2

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Maura Gallo

4

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Silvana Geracitano

5

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4 January 2020

Francesca Frangipane

8

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Maria Mirabelli

9

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Raffaele Giovanni Maletta

11

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Amalia C Bruni

12

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publication date

25 March 2008

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volume

255

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page(s)

604-606

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issue

4

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https://scigraph.springernature.com/pub.10.1007/s00415-008-0764-3

4 January 2020

exact match

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cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

1 reference

12 December 2020

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

1 reference

12 December 2020

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

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

Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population.

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

10.1007/S00415-008-0764-3

Identifiers

DOI

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4 January 2020

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