(Q37705846)

22 August 2017

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title

The genetics of prion diseases (English)

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22 August 2017

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James A Mastrianni

1

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22 August 2017

language of work or name

English

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publication date

1 April 2010

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22 August 2017

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22 August 2017

volume

12

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22 August 2017

issue

4

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22 August 2017

page(s)

187-195

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181cd7374

22 August 2017

exact match

0 references

cites work

Sporadic and familial CJD: classification and characterisation.

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

Diffusion-weighted MRI in sporadic Creutzfeldt-Jakob disease.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

Detection of 14-3-3 protein in the cerebrospinal fluid supports the diagnosis of Creutzfeldt-Jakob disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

The 14-3-3 protein detectable in the cerebrospinal fluid of patients with prion-unrelated neurological diseases is expressed constitutively in neurons and glial cells in culture

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

14-3-3 protein in the CSF of patients with rapidly progressive dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

A prion protein variant in a family with the telencephalic form of Gerstmann-Straussler-Scheinker syndrome

21 January 2018

1 reference

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Prion disease (PrP-A117V) presenting with ataxia instead of dementia

21 January 2018

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Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features.

21 January 2018

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Sleep-wake disturbances in sporadic Creutzfeldt-Jakob disease.

21 January 2018

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Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease.

21 January 2018

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Prion protein conformation in a patient with sporadic fatal insomnia

21 January 2018

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Mutations of the prion protein gene phenotypic spectrum

21 January 2018

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Ultrastructural pathology of prion diseases revisited: brain biopsy studies.

21 January 2018

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The prion diseases: Creutzfeldt-Jakob, Gerstmann-Sträussler-Scheinker, and related disorders.

21 January 2018

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PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.

21 January 2018

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Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits.

21 January 2018

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Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129.

21 January 2018

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Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.

21 January 2018

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Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features.

21 January 2018

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Huntington's disease phenocopies are clinically and genetically heterogeneous

21 January 2018

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Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

21 January 2018

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Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies.

21 January 2018

1 reference

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Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease

21 January 2018

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Inhibition of PrPSc formation by lentiviral gene transfer of PrP containing dominant negative mutations.

21 January 2018

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Dominant-negative inhibition of prion replication in transgenic mice

21 January 2018

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A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

21 January 2018

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Genetic prion disease: the EUROCJD experience.

21 January 2018

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A subtype of sporadic prion disease mimicking fatal familial insomnia.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

Washington statewide pathology surveillance for prion disease

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

When sporadic disease is not sporadic: the potential for genetic etiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

Deletions in the prion protein gene are not associated with CJD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

Prion susceptibility and protective alleles exhibit marked geographic differences

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD7374

10.1097/GIM.0B013E3181CD7374

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

22 August 2017

1002560639

0 references

1 reference