Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene. (Q44823227)

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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

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26 December 2019

Fabrizio Tagliavini

10

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26 December 2019

Giorgio Giaccone

2

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ORCID Public Data File 2021

Sandro Sorbi

8

object named as

Sandro Sorbi

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26 December 2019

9

Orso Bugiani

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26 December 2019

1

Gabriella Marcon

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26 December 2019

author name string

Matteo Balestrieri

4

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26 December 2019

Carlo Alberto Beltrami

5

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26 December 2019

Nicoletta Finato

6

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26 December 2019

Paolo Bergonzi

7

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26 December 2019

publication date

1 March 2004

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Journal of Neuropathology & Experimental Neurology

26 December 2019

published in

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26 December 2019

volume

63

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26 December 2019

issue

3

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26 December 2019

page(s)

199-209

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

26 December 2019

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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

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

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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.

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

21 January 2018

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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

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

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

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Neuropathological stageing of Alzheimer-related changes

21 January 2018

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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

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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

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease

21 January 2018

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

21 January 2018

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21 January 2018

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