(Q40242218)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917905%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment (English)

1 reference

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29 December 2019

0 references

1 reference

5

1 reference

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29 December 2019

Nathalie Brouwers

7

1 reference

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29 December 2019

Rik Vandenberghe

14

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Christine Van Broeckhoven

29 December 2019

13

object named as

Van Broeckhoven C

1 reference

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29 December 2019

author name string

Theuns J

1

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29 December 2019

Marjaux E

2

1 reference

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29 December 2019

Vandenbulcke M

3

1 reference

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29 December 2019

Van Laere K

4

1 reference

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29 December 2019

Bormans G

6

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29 December 2019

Van den Broeck M

8

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29 December 2019

Vennekens K

9

1 reference

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29 December 2019

Corsmit E

10

1 reference

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29 December 2019

Cruts M

11

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29 December 2019

De Strooper B

12

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29 December 2019

publication date

1 September 2006

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29 December 2019

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29 December 2019

volume

27

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29 December 2019

page(s)

888-896

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29 December 2019

issue

9

1 reference

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Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutation

29 December 2019

cites work

1 reference

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Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene

21 January 2018

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Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric

21 January 2018

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A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene

21 January 2018

1 reference

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Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease

21 January 2018

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7 January 2021

Presenilin 1 controls gamma-secretase processing of amyloid precursor protein in pre-golgi compartments of hippocampal neurons

1 reference

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7 January 2021

Familial Alzheimer disease associated with A713T mutation in APP.

1 reference

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7 January 2021

APOE polymorphism and clinical duration determine regional neuropathology in Swedish APP(670, 671) mutation carriers: implications for late-onset Alzheimer's disease.

1 reference

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7 January 2021

The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years.

1 reference

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7 January 2021

Release of excess amyloid beta protein from a mutant amyloid beta protein precursor.

1 reference

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7 January 2021

Beta A4 protein deposition in familial Alzheimer's disease with the mutation in codon 717 of the beta A4 amyloid precursor protein gene and sporadic Alzheimer's disease.

1 reference

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7 January 2021

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

1 reference

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7 January 2021

Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production

1 reference

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7 January 2021

Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation

1 reference

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7 January 2021

Effects of the mutations Glu22 to Gln and Ala21 to Gly on the aggregation of a synthetic fragment of the Alzheimer's amyloid beta/A4 peptide.

1 reference

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7 January 2021

Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.

1 reference

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7 January 2021

Presenilin mutations in Alzheimer's disease

1 reference

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7 January 2021

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Novel APP mutation V715A associated with presenile Alzheimer's disease in a German family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion

1 reference

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7 January 2021

Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

1 reference

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7 January 2021

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

1 reference

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7 January 2021

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

1 reference

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7 January 2021

Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia.

1 reference

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7 January 2021

A portrait of Alzheimer secretases--new features and familiar faces

1 reference

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7 January 2021

Presenilin 1 mediates the turnover of telencephalin in hippocampal neurons via an autophagic degradative pathway

1 reference

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7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20402

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Further evidence for an association between a mutation in the APP gene and Lewy body formation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Visualization of A beta 42(43) and A beta 40 in senile plaques with end-specific A beta monoclonals: evidence that an initially deposited species is A beta 42(43).

1 reference

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7 January 2021

Increased beta-amyloid release and levels of amyloid precursor protein (APP) in fibroblast cell lines from family members with the Swedish Alzheimer's disease APP670/671 mutation.

1 reference

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7 January 2021

Identification and characterization of key kinetic intermediates in amyloid beta-protein fibrillogenesis

1 reference

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7 January 2021

The binding of 2-(4'-methylaminophenyl)benzothiazole to postmortem brain homogenates is dominated by the amyloid component.

1 reference

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7 January 2021

Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B

1 reference

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7 January 2021

Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease

1 reference

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7 January 2021

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.

1 reference

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7 January 2021

Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis

1 reference

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7 January 2021

Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family.

1 reference

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7 January 2021

Familial Alzheimer's disease with the amyloid precursor protein position 717 mutation and sporadic Alzheimer's disease have the same cytoskeletal pathology.

1 reference

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7 January 2021

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

1 reference

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7 January 2021

Reproducibility of repeated measures of deuterium substituted [11C]L-deprenyl ([11C]L-deprenyl-D2) binding in the human brain.

1 reference

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7 January 2021

Neuronal nicotinic receptor deficits in Alzheimer patients with the Swedish amyloid precursor protein 670/671 mutation.

1 reference

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7 January 2021

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid

1 reference

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7 January 2021

Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val→Ile mutation in the amyloid precursor protein gene

1 reference

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7 January 2021

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

1 reference

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7 January 2021

The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation

1 reference

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7 January 2021

A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.

1 reference

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7 January 2021

A Western Australian kindred with Dutch cerebral amyloid angiopathy.

1 reference

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7 January 2021

Kinetic modeling of amyloid binding in humans using PET imaging and Pittsburgh Compound-B.

1 reference

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7 January 2021

Pathology of familial Alzheimer's disease with Lewy bodies.

1 reference

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7 January 2021

Alzheimer's disease families with amyloid precursor protein mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

APP717 and Alzheimer's disease in Italy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Aberrant accentuation of neurofibrillary degeneration in the hippocampus of Alzheimer's disease with amyloid precursor protein 717 and presenilin-1 gene mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Preamyloid deposits in the cerebral cortex of patients with Alzheimer's disease and nondemented individuals.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Amyloid beta-protein fibrillogenesis. Detection of a protofibrillar intermediate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Elevation of beta-amyloid peptide 2-42 in sporadic and familial Alzheimer's disease and its generation in PS1 knockout cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Peptides homologous to the amyloid protein of Alzheimer's disease containing a glutamine for glutamic acid substitution have accelerated amyloid fibril formation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

High selective expression of alpha7 nicotinic receptors on astrocytes in the brains of patients with sporadic Alzheimer's disease and patients carrying Swedish APP 670/671 mutation: a possible association with neuritic plaques.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20402

7 January 2021

Identifiers

DOI

10.1002/HUMU.20402

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917905%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference