(Q44823227)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15055444%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene (English)

1 reference

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26 December 2019

0 references

3

1 reference

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26 December 2019

Fabrizio Tagliavini

10

1 reference

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26 December 2019

Giorgio Giaccone

2

1 reference

ORCID Public Data File 2021

Sandro Sorbi

8

object named as

Sandro Sorbi

1 reference

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26 December 2019

9

Orso Bugiani

1 reference

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26 December 2019

1

Gabriella Marcon

1 reference

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26 December 2019

author name string

Matteo Balestrieri

4

1 reference

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26 December 2019

Carlo Alberto Beltrami

5

1 reference

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26 December 2019

Nicoletta Finato

6

1 reference

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26 December 2019

Paolo Bergonzi

7

1 reference

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26 December 2019

publication date

1 March 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15055444%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neuropathology & Experimental Neurology

26 December 2019

published in

1 reference

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26 December 2019

volume

63

1 reference

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26 December 2019

issue

3

1 reference

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26 December 2019

page(s)

199-209

1 reference

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

26 December 2019

cites work

1 reference

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A familial Alzheimer's disease locus on chromosome 1.

21 January 2018

1 reference

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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

21 January 2018

1 reference

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

21 January 2018

1 reference

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A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

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A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Familial Alzheimer's disease in American descendants of the Volga Germans: probable genetic founder effect.

21 January 2018

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Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families.

21 January 2018

1 reference

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Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).

21 January 2018

1 reference

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The structural basis of monoclonal antibody Alz50's selectivity for Alzheimer's disease pathology.

21 January 2018

1 reference

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Monoclonal antibody AT8 recognises tau protein phosphorylated at both serine 202 and threonine 205.

21 January 2018

1 reference

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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

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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

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Neuropathological stageing of Alzheimer-related changes

21 January 2018

1 reference

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

21 January 2018

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.

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

21 January 2018

1 reference

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Distinguishable effects of presenilin-1 and APP717 mutations on amyloid plaque deposition.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.3.199

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/10.1093%2FJNEN%2F63.3.199

Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F63.3.199

Neurogenic phenotypes and altered Notch processing in Drosophila Presenilin mutants.

21 January 2018

1 reference

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Ultrastructural localization of beta-amyloid, tau, and ubiquitin epitopes in extracellular neurofibrillary tangles

21 January 2018

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

21 January 2018

1 reference

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Consensus Recommendations for the Postmortem Diagnosis of Alzheimer’s Disease

21 January 2018

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