Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene (Q35889725)

10 August 2017

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

1 reference

10 August 2017

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17

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10 August 2017

Carolyn F Orr

4

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Rosa Rademakers

15

object named as

Rosa Rademakers

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10 August 2017

11

Clifford R Jack

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10 August 2017

10

Kejal Kantarci

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10 August 2017

2

Bradley F Boeve

1 reference

10 August 2017

3

Brendon P Boot

1 reference

10 August 2017

5

Joseph Duffy

1 reference

10 August 2017

9

Karen Kuntz

1 reference

10 August 2017

16

Joseph E Parisi

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10 August 2017

13

Julie A Fields

1 reference

10 August 2017

Neeraj Kumar

1

1 reference

10 August 2017

Bryan K Woodruff

6

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10 August 2017

Anil K Nair

7

1 reference

10 August 2017

Jay Ellison

8

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10 August 2017

Barbara F Westmoreland

12

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10 August 2017

Matthew Baker

14

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10 August 2017

1 September 2011

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10 August 2017

Archives of Neurology

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10 August 2017

68

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10 August 2017

1165-1170

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10 August 2017

9

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Epidemiology and genetics of frontotemporal dementia/Pick's disease.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Mutations of the prion protein gene phenotypic spectrum

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker family

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

The primary structure of the prion protein influences the distribution of abnormal prion protein in the central nervous system

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

High cerebrospinal fluid tau and low amyloid beta42 levels in the clinical diagnosis of Alzheimer disease and relation to apolipoprotein E genotype.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Prion encephalopathy with insertion of octapeptide repeats: the number of repeats determines the type of cerebellar deposits.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Dementia associated with a 216 base pair insertion in the prion protein gene. Clinical and neuropathological features.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Two novel insertions in the prion protein gene in patients with late-onset dementia.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Prion disease with 144 base pair insertion in a Japanese family line.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3326586

Insert mutation in Creutzfeldt-Jakob disease

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21911696

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21911696

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A new (two-repeat) octapeptide coding insert mutation in Creutzfeldt-Jakob disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21911696

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHNEUROL.2011.187

1 reference

10 August 2017

1 reference

10 August 2017

1 reference