Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. (Q30483865)

14 October 2017

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. (English)

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14 October 2017

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14 October 2017

Sabina Capellari

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Rosaria Strammiello

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object named as

Rosaria Strammiello

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14 October 2017

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Willem A van Gool

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14 October 2017

Annemieke J M Rozemuller

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object named as

Annemieke J M Rozemuller

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14 October 2017

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John C van Swieten

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14 October 2017

Casper Jansen

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14 October 2017

Ad J Vermeij

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14 October 2017

Patrizia Corrado

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14 October 2017

13 November 2009

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14 October 2017

Acta Neuropathologica

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14 October 2017

119

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14 October 2017

189-197

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14 October 2017

2

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https://scigraph.springernature.com/pub.10.1007/s00401-009-0609-x

14 October 2017

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cites work

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

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Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease

20 June 2018

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Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid beta-peptide

20 June 2018

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Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry

20 June 2018

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Anchorless prion protein results in infectious amyloid disease without clinical scrapie

20 June 2018

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Sporadic and familial CJD: classification and characterisation.

20 June 2018

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Hereditary prion protein amyloidoses

20 June 2018

1 reference

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The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics

20 June 2018

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Pathology of variant Creutzfeldt-Jakob disease.

20 June 2018

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

20 June 2018

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Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene

20 June 2018

1 reference

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An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity

20 June 2018

1 reference

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Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808512

Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family.

20 June 2018

1 reference

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Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP.

20 June 2018

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Gerstmann-Sträussler-Scheinker disease and the Indiana kindred

20 June 2018

1 reference

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Subacute spongiform encephalopathy (Creutzfeldt-Jakob disease) with amyloid angiopathy

20 June 2018

1 reference

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Cerebral amyloid angiopathy. A critical review

20 June 2018

1 reference

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Amyloid protein of Gerstmann-Sträussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808512

Creutzfeldt-Jakob disease with amyloid angiopathy: diagnosis by immunological analyses and transmission experiments

20 June 2018

1 reference

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Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00401-009-0609-X

Two types of sporadic cerebral amyloid angiopathy.

21 January 2018

1 reference

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Inter-laboratory assessment of PrPSc typing in creutzfeldt-jakob disease: a Western blot study within the NeuroPrion Consortium.

21 January 2018

1 reference

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Tauopathy in human and experimental variant Creutzfeldt-Jakob disease.

26 November 2018

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Cerebrovascular P-glycoprotein expression is decreased in Creutzfeldt-Jakob disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808512

Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808512

Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808512

Creutzfeldt-Jakob disease and cerebral amyloid angiopathy.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808512

Characterization of the Properties and Trafficking of an Anchorless Form of the Prion Protein

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808512

Gerstmann-Sträussler-Scheinker disease and the French-Alsatian A117V variant

26 November 2018

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12 December 2020

Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

1 reference

12 December 2020

Gerstmann-Sträussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family

1 reference

12 December 2020

Gerstmann-Sträussler-Scheinker disease showing beta-protein type cerebellar and cerebral amyloid angiopathy

1 reference

12 December 2020

Cerebral amyloid angiopathy with co-localization of prion protein and beta-amyloid in an 85-year-old patient with sporadic Creutzfeldt-Jakob disease

1 reference

12 December 2020

10.1007/S00401-009-0609-X

Identifiers

DOI

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Dimensions Publication ID

14 October 2017

0 references

1 reference

14 October 2017

1 reference