(Q48959566)

English

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy.

scientific article published on 6 August 2011

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scholarly article

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy. (English)

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

Alzheimer's disease

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2

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

Cristian Bonvicini

3

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

Massimo Gennarelli

object named as

Massimo Gennarelli

7

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Barbara Borroni

1

object named as

Barbara Borroni

1 reference

Europe PubMed Central

17 February 2018

author name string

Silvana Archetti

4

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

Antonella Alberici

5

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

Andrea Lupi

6

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

Alessandro Padovani

8

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

publication date

6 August 2011

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Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

Neurological Sciences

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Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

33

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Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

2

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

375-378

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

https://scigraph.springernature.com/pub.10.1007/s10072-011-0714-1

0 references

Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

Early‐onset Alzheimer's disease with presenilin‐1 M139V mutation: clinical, neuropsychological and neuropathological study

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

Dementia, delusions and seizures: storage disease or genetic AD?

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

Apolipoprotein E genotype and Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1007%2FS10072-011-0714-1

21 January 2018

Apolipoprotein E genotype and Alzheimer's disease. Alzheimer's Disease Collaborative Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/21822699

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tau and Abeta42 in cerebrospinal fluid from healthy adults 21-93 years of age: establishment of reference values.

1 reference

https://pubmed.ncbi.nlm.nih.gov/21822699

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10072-011-0714-1

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

1 reference

Europe PubMed Central

17 February 2018

http://europepmc.org/abstract/MED/21822699

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