Quantifying prion disease penetrance using large population control cohorts (Q36639581)

15 August 2017

Quantifying prion disease penetrance using large population control cohorts (English)

1 reference

15 August 2017

0 references

Cornelia M. van Duijn

Cornelia M van Duijn

0 references

André Uitterlinden

André G Uitterlinden

0 references

Cory Y McLean

Cory Y McLean

0 references

Anne H O'Donnell-Luria

Anne H O'Donnell-Luria

0 references

Konrad J Karczewski

0 references

Kaitlin E Samocha

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Sven J van der Lee

0 references

Nobuo Sanjo

0 references

Miguel Calero

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Piero Parchi

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Sabina Capellari

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Karen L Mohlke

1 reference

15 August 2017

Eric Vallabh Minikel

1 reference

15 August 2017

Sonia M Vallabh

1 reference

15 August 2017

Markku Laakso

1 reference

15 August 2017

Michael Boehnke

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15 August 2017

Christina M Hultman

1 reference

15 August 2017

Mark J Daly

1 reference

15 August 2017

Albert Hofman

1 reference

15 August 2017

Steven McCarroll

1 reference

15 August 2017

Inga Zerr

1 reference

15 August 2017

Patrick F Sullivan

1 reference

15 August 2017

Pamela Sklar

1 reference

15 August 2017

Pierluigi Gambetti

1 reference

15 August 2017

Tetsuyuki Kitamoto

1 reference

15 August 2017

Armin Giese

1 reference

15 August 2017

Annemieke J M Rozemuller

Annemieke Rozemuller

1 reference

15 August 2017

Anna Poleggi

1 reference

15 August 2017

Anna Ladogana

1 reference

15 August 2017

Richard Knight

1 reference

15 August 2017

Robert G Will

1 reference

15 August 2017

Robert Kraaij

1 reference

15 August 2017

Monkol Lek

1 reference

15 August 2017

Karol Estrada

1 reference

15 August 2017

J Fah Sathirapongsasuti

1 reference

15 August 2017

Joyce Y Tung

1 reference

15 August 2017

Linda P C Yu

1 reference

15 August 2017

Janis Blevins

1 reference

15 August 2017

Shulin Zhang

1 reference

15 August 2017

Yvonne Cohen

1 reference

15 August 2017

Wei Chen

1 reference

15 August 2017

Masahito Yamada

1 reference

15 August 2017

Tsuyoshi Hamaguchi

1 reference

15 August 2017

Hidehiro Mizusawa

1 reference

15 August 2017

Yosikazu Nakamura

1 reference

15 August 2017

Steven J Collins

1 reference

15 August 2017

Alison Boyd

1 reference

15 August 2017

Claudia Ponto

1 reference

15 August 2017

Theo F J Kraus

1 reference

15 August 2017

Sabina Eigenbrod

1 reference

15 August 2017

Jesús de Pedro-Cuesta

1 reference

15 August 2017

Stéphane Haïk

1 reference

15 August 2017

Jean-Louis Laplanche

1 reference

15 August 2017

Elodie Bouaziz-Amar

1 reference

15 August 2017

Jean-Philippe Brandel

1 reference

15 August 2017

Jamie L Marshall

1 reference

15 August 2017

Anna Kähler

1 reference

15 August 2017

Kimberly Chambert

1 reference

15 August 2017

Shaun M Purcell

1 reference

15 August 2017

Casper Jansen

1 reference

15 August 2017

Jeroen G J van Rooij

1 reference

15 August 2017

M Arfan Ikram

1 reference

15 August 2017

Exome Aggregation Consortium (ExAC)

1 reference

15 August 2017

Daniel G MacArthur

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 January 2016

1 reference

Science Translational Medicine

15 August 2017

1 reference

15 August 2017

1 reference

15 August 2017

322

1 reference

15 August 2017

322ra9

1 reference

describes a project that uses

15 August 2017

Bayes' theorem

1 reference

18 June 2022

https://europepmc.org/article/PMC/4774245

inferred from PubMed Central ID database lookup

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The Features of Genetic Prion Diseases Based on Chinese Surveillance Program

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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

30 September 2017

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Transgenic fatal familial insomnia mice indicate prion infectivity-independent mechanisms of pathogenesis and phenotypic expression of disease

30 September 2017

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

30 September 2017

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A new prion disease: relationship with central and peripheral amyloidoses

30 September 2017

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The genetic ancestry of African Americans, Latinos, and European Americans across the United States

30 September 2017

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Ascertainment bias causes false signal of anticipation in genetic prion disease

30 September 2017

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A framework for the interpretation of de novo mutation in human disease

30 September 2017

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Convection-enhanced delivery of AAV2-PrPshRNA in prion-infected mice

30 September 2017

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Reducing pervasive false-positive identical-by-descent segments detected by large-scale pedigree analysis

30 September 2017

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Guidelines for investigating causality of sequence variants in human disease

30 September 2017

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Predictive testing for inherited prion disease: report of 22 years experience

30 September 2017

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Novel compounds lowering the cellular isoform of the human prion protein in cultured human cells

30 September 2017

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A polygenic burden of rare disruptive mutations in schizophrenia

30 September 2017

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30 September 2017

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Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

30 September 2017

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

30 September 2017

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The penetrance of copy number variations for schizophrenia and developmental delay.

30 September 2017

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Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases

30 September 2017

1 reference

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

30 September 2017

1 reference

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Unique drug screening approach for prion diseases identifies tacrolimus and astemizole as antiprion agents

30 September 2017

1 reference

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Hunting human disease genes: lessons from the past, challenges for the future.

30 September 2017

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Intracerebral Infusion of Antisense Oligonucleotides Into Prion-infected Mice

30 September 2017

1 reference

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Healthy goats naturally devoid of prion protein

30 September 2017

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Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

30 September 2017

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Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects

30 September 2017

1 reference

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Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

30 September 2017

1 reference

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Spontaneous generation of anchorless prions in transgenic mice

30 September 2017

1 reference

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Can mortality data provide reliable indicators for Creutzfeldt-Jakob disease surveillance? A study in France from 2000 to 2008.

30 September 2017

1 reference

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A copy number variation morbidity map of developmental delay

30 September 2017

1 reference

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A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

30 September 2017

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Integrative genomics viewer

30 September 2017

1 reference

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Pathologic evidence that the T188R mutation in PRNP is associated with prion disease

30 September 2017

1 reference

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Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis

30 September 2017

1 reference

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PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

30 September 2017

1 reference

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Liposome-siRNA-peptide complexes cross the blood-brain barrier and significantly decrease PrP on neuronal cells and PrP in infected cell cultures

30 September 2017

1 reference

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Fatal transmissible amyloid encephalopathy: a new type of prion disease associated with lack of prion protein membrane anchoring

30 September 2017

1 reference

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The genetics of prion diseases

30 September 2017

1 reference

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Axonal prion protein is required for peripheral myelin maintenance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Human prion diseases in the United States.

30 September 2017

1 reference

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PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Spontaneous generation of prion infectivity in fatal familial insomnia knockin mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Single treatment with RNAi against prion protein rescues early neuronal dysfunction and prolongs survival in mice with prion disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

The prion's elusive reason for being

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

30 September 2017

1 reference

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Production of cattle lacking prion protein.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

30 September 2017

Prion disease genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Loss of glycosylation associated with the T183A mutation in human prion disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

A method of estimating comparative rates from clinical data; applications to cancer of the lung, breast, and cervix.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Depleting neuronal PrP in prion infection prevents disease and reverses spongiosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

On estimating the relation between blood group and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Huntington disease phenocopy is a familial prion disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Hardy, Weinberg and language impediments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Prion protein (PrP) with amino-proximal deletions restoring susceptibility of PrP knockout mice to scrapie.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Mice devoid of PrP are resistant to scrapie

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Mutation of the prion protein in Libyan Jews with Creutzfeldt-Jakob disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Creutzfeldt-Jakob disease: Patterns of worldwide occurrence and the significance of familial and sporadic clustering

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

28 June 2018

Can 23andMe have it all?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Intensity of human prion disease surveillance predicts observed disease incidence

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Novel prion protein gene mutation at codon 196 (E196A) in a septuagenarian with Creutzfeldt-Jakob disease

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Prospective 10-year surveillance of human prion diseases in Japan.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Genetic prion disease: the EUROCJD experience

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Prion clearance in bigenic mice

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Mortality trend from sporadic Creutzfeldt-Jakob disease (CJD) in Italy, 1993-2000.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Creutzfeldt-Jakob disease in Australia 1970-1999.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

On the use of familial aggregation in population-based case probands for calculating penetrance

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Molecular genetics of human prion diseases in Germany

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Spontaneous neurodegeneration in transgenic mice with mutant prion protein

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4774245

Analysis of protein-coding genetic variation in 60,706 humans

20 September 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Evidence for a pathogenic role of different mutations at codon 188 of PRNP

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Familial spongiform encephalopathy associated with a novel prion protein gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Two novel insertions in the prion protein gene in patients with lateonset dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

A prion disease with a novel 96-base pair insertional mutation in the prion protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Novel prion protein insert mutation associated with prolonged neurodegenerative illness

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Gerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Atypical prion protein conformation in familial prion disease with PRNP P105T mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Creutzfeldt-Jakob disease with PRNP G114V mutation in a Chinese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Immunochemical, molecular genetic, and transmission studies on a case of Gerstmann-Straussler-Scheinker syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Novel prion protein gene mutation presenting with subacute PSP-like syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

A novel prion disease associated with diarrhea and autonomic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Unusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G).

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Seroepidemiological study of filovirus related to Ebola in the Philippines

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Novel mutation of the PRNP gene of a clinical CJD case

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

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

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

The Rotterdam Study: 2016 objectives and design update

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAD5169

Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype

21 January 2018

1 reference

12 December 2020

High incidence of genetic human transmissible spongiform encephalopathies in Italy

1 reference

12 December 2020

Evaluation of LRRK2 G2019S penetrance: Relevance for genetic counseling in Parkinson disease

1 reference

12 December 2020

Generation of goats lacking prion protein

1 reference

12 December 2020

Mutation in codon 200 of scrapie amyloid precursor gene linked to Creutzfeldt-Jakob disease in Sephardic Jews of Libyan and non-Libyan origin

1 reference

12 December 2020

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation

1 reference

12 December 2020

Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome

1 reference

12 December 2020

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

12 December 2020

A new point mutation in the prion protein gene at codon 210 in Creutzfeldt-Jakob disease

1 reference

12 December 2020

10.1126/SCITRANSLMED.AAD5169

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

26791950

1 reference