(Q34505186)

2 August 2017

title

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

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2 August 2017

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inherited prion disease

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15

J W Ironside

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ORCID Public Data File 2021

2 August 2017

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author name string

G R Mallucci

1

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2 August 2017

T A Campbell

2

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2 August 2017

A Dickinson

3

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2 August 2017

J Beck

4

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2 August 2017

M Holt

5

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2 August 2017

G Plant

6

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2 August 2017

K W de Pauw

7

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2 August 2017

R N Hakin

8

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2 August 2017

C E Clarke

9

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2 August 2017

S Howell

10

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2 August 2017

G A Davies-Jones

11

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2 August 2017

M Lawden

12

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2 August 2017

C M Smith

13

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2 August 2017

P Ince

14

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2 August 2017

L R Bridges

16

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2 August 2017

A Dean

17

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2 August 2017

I Weeks

18

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2 August 2017

J Collinge

19

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2 August 2017

language of work or name

English

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publication date

1 October 1999

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2 August 2017

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2 August 2017

volume

122 ( Pt 10)

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2 August 2017

page(s)

1823-1837

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Clinical and molecular genetic study of a large German kindred with Gerstmann-Straussler-Scheinker syndrome

2 August 2017

cites work

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A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia.

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Prion dementia without characteristic pathology

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Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease

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

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Transmission of fatal familial insomnia to laboratory animals.

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Unaltered susceptibility to BSE in transgenic mice expressing human prion protein.

21 January 2018

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Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD.

21 January 2018

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Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene

21 January 2018

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Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome

21 January 2018

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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

21 January 2018

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Alzheimer's disease. A family study.

21 January 2018

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Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples.

21 January 2018

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

21 January 2018

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Spontaneous neurodegeneration in transgenic mice with mutant prion protein

21 January 2018

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Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome

21 January 2018

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

21 January 2018

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Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews

21 January 2018

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Familial dementia with PrP-positive amyloid plaques: a variant of Gerstmann-Sträussler syndrome

21 January 2018

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

21 January 2018

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Homozygous prion protein genotype predisposes to sporadic Creutzfeldt–Jakob disease

21 January 2018

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Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies.

21 January 2018

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

21 January 2018

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Experimental transmission of human subacute spongiform encephalopathy to small rodents. I. Clinical and histological observations

21 January 2018

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First experimental transmission of fatal familial insomnia.

21 January 2018

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Prion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein

21 January 2018

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Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies

21 January 2018

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Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation

21 January 2018

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A new variant of Creutzfeldt-Jakob disease in the UK.

21 January 2018

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A PvuII RFLP detected in the human prion protein (PrP) gene

21 January 2018

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The same prion strain causes vCJD and BSE

21 January 2018

1 reference

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10.1093/BRAIN/122.10.1823

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference