Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease. (Q44529071)

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6 November 2019

title

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

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6 November 2019

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13

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6 November 2019

Judith Miklossy

1

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6 November 2019

Catriona A. McLean

11

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6 November 2019

Ralph Martins

14

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6 November 2019

author name string

Kevin Taddei

2

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6 November 2019

Domizio Suva

3

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6 November 2019

Giuseppe Verdile

4

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6 November 2019

Justin Fonte

5

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6 November 2019

Christopher Fisher

6

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6 November 2019

Anastazija Gnjec

7

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6 November 2019

Joseph Ghika

8

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Françoise Suard

9

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6 November 2019

Pankaj D Mehta

10

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Colin L Masters

12

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publication date

1 September 2003

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6 November 2019

published in

Neurobiology of Aging

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6 November 2019

volume

24

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6 November 2019

issue

5

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6 November 2019

page(s)

655-662

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Staging of Alzheimer-related cortical destruction

6 November 2019

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Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

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7 January 2021

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

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7 January 2021

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

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

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Protein topology of presenilin 1

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Early-onset Alzheimer's disease: clinical predictors of institutionalization and death.

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

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Diagnosis of Alzheimer's disease

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7 January 2021

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.

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

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

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7 January 2021

Intracellular accumulation of detergent-soluble amyloidogenic A beta fragment of Alzheimer's disease precursor protein in the hippocampus of aged transgenic mice.

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7 January 2021

Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1

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7 January 2021

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

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7 January 2021

Increased plasma amyloid beta protein 1-42 levels in Down syndrome

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7 January 2021

Plasma and cerebrospinal fluid levels of amyloid beta proteins 1-40 and 1-42 in Alzheimer disease.

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7 January 2021

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

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7 January 2021

Application of the National Institute on Aging (NIA)-Reagan Institute criteria for the neuropathological diagnosis of Alzheimer disease.

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7 January 2021

Alzheimer disease PS-1 exon 9 deletion defined.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Nucleotide sequence of the chromosome 14-encodedS182cDNA and revised secondary structure prediction

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7 January 2021

Primary motor cortex involvement in Alzheimer disease.

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7 January 2021

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

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7 January 2021

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

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7 January 2021

Variant Alzheimer's disease with spastic paraparesis: clinical characterization.

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7 January 2021

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.

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7 January 2021

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Identifiers

DOI

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6 November 2019

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