Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients (Q27489715)

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6 February 2020

title

Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients (English)

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6 February 2020

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7

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6 February 2020

4

Seong Soo A An

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6 February 2020

author name string

Bo-Yeong Choi

1

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6 February 2020

Su Yeon Kim

2

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6 February 2020

So-Young Seo

3

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6 February 2020

Sangyun Kim

5

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6 February 2020

Sang-Eun Park

6

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6 February 2020

Yun-Ju Choi

8

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6 February 2020

Sang-Jin Kim

9

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6 February 2020

Chi-Kyeong Kim

10

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6 February 2020

Jun-Sun Park

11

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6 February 2020

Young-Ran Ju

12

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6 February 2020

publication date

22 August 2009

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6 February 2020

published in

BMC Infectious Diseases

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6 February 2020

volume

9

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issue

1

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page(s)

132

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https://scigraph.springernature.com/pub.10.1186/1471-2334-9-132

6 February 2020

exact match

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cites work

Mutations of the prion protein gene phenotypic spectrum

1 reference

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Prion diseases of humans and animals: their causes and molecular basis

20 March 2017

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Phenotypic variability in familial prion diseases due to the D178N mutation.

20 March 2017

1 reference

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Glycosylation of prions and its effects on protein conformation relevant to amino acid mutations.

29 September 2017

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Prion protein NMR structure and familial human spongiform encephalopathies

29 September 2017

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Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease

29 September 2017

1 reference

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Accuracy and reliability of periodic sharp wave complexes in Creutzfeldt-Jakob disease

29 September 2017

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Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted disease.

2 June 2018

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Creutzfeldt-Jakob disease: clinical analysis of a consecutive series of 230 neuropathologically verified cases.

2 June 2018

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Identification of glycoinositol phospholipid linked and truncated forms of the scrapie prion protein

2 June 2018

1 reference

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The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease.

2 June 2018

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Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

2 June 2018

1 reference

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Genetic prion disease: the EUROCJD experience.

2 June 2018

1 reference

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A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.

21 January 2018

1 reference

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Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Magnetic resonance imaging in the clinical diagnosis of Creutzfeldt-Jakob disease.

21 January 2018

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Isoform pattern of 14-3-3 proteins in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease.

21 January 2018

1 reference

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

21 January 2018

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Familial mutations and the thermodynamic stability of the recombinant human prion protein.

21 January 2018

1 reference

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Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia.

21 January 2018

1 reference

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Fatal familial insomnia: the first account in a family of Chinese descent

21 January 2018

1 reference

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

21 January 2018

1 reference

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Detection of 14-3-3 protein in the CSF of genetic Creutzfeldt-Jakob disease

21 January 2018

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

Fatal familial insomnia with a mutation at codon 178 of the prion protein gene: first report from Japan

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1186/1471-2334-9-132

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19698114%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 February 2020

1006771667

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19698114%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

2 references