Predictive testing for inherited prion disease: report of 22 years experience (Q33882164)

29 July 2017

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

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29 July 2017

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inherited prion disease

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10

John Collinge

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29 July 2017

Jane Owen

1

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29 July 2017

Jon Beck

2

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29 July 2017

Tracy Campbell

3

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29 July 2017

Gary Adamson

4

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29 July 2017

Michele Gorham

5

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29 July 2017

Andrew Thompson

6

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29 July 2017

Sarah Smithson

7

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29 July 2017

Elizabeth Rosser

8

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29 July 2017

Peter Rudge

9

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29 July 2017

Simon Mead

11

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29 July 2017

9 April 2014

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European Journal of Human Genetics

29 July 2017

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29 July 2017

22

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29 July 2017

12

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29 July 2017

1351-1356

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https://scigraph.springernature.com/pub.10.1038/ejhg.2014.42

29 July 2017

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cites work

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

1 reference

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Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).

5 July 2018

1 reference

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

5 July 2018

1 reference

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Long-term outcome of presymptomatic testing in Huntington disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

Psychiatric disorders in preclinical Huntington's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

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

5 July 2018

1 reference

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5 July 2018

Prion disease genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias

5 July 2018

1 reference

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Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease

5 July 2018

1 reference

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Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease.

5 July 2018

1 reference

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Psychological consequences of predictive genetic testing: a systematic review

5 July 2018

1 reference

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Paradox of a better test for Huntington's disease

5 July 2018

1 reference

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Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

Psychological impact of predicting individuals' risks of illness: a systematic review.

5 July 2018

1 reference

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DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland

5 July 2018

1 reference

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The National Psychiatric Morbidity surveys of Great Britain--initial findings from the household survey.

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

Presymptomatic testing for Huntington's disease in Wales 1987-90

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

Insertion in prion protein gene in familial Creutzfeldt-Jakob disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

Guidelines for the molecular genetics predictive test in Huntington's disease

28 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Predictive and pre-natal testing for Huntington Disease in Australia: results and challenges encountered during a 10-year period (1994-2003).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Huntington's disease in Greece: the experience of 14 years

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Uptake of Huntington disease predictive testing in a complete population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Experience over fifteen years with a protocol for predictive testing for Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.42

Predictive testing for Huntington's disease: I. Predictors of uptake in South Wales.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4091984

Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24713662

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Guidelines for the molecular genetics predictive test in Huntington's disease. International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24713662

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24713662

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.42

1 reference

29 July 2017

1 reference

29 July 2017

1 reference