Huntington disease phenocopy is a familial prion disease (Q34044888)

30 July 2017

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Huntington disease phenocopy is a familial prion disease (English)

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30 July 2017

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8

Prusiner SB

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30 July 2017

Moore RC

1

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30 July 2017

Xiang F

2

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30 July 2017

Monaghan J

3

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30 July 2017

Han D

4

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30 July 2017

Zhang Z

5

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30 July 2017

Edström L

6

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30 July 2017

Anvret M

7

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30 July 2017

language of work or name

English

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publication date

9 October 2001

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American Journal of Human Genetics

30 July 2017

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30 July 2017

69

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30 July 2017

1385-1388

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30 July 2017

6

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Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3.

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

Accumulation of protease-resistant prion protein (PrP) and apoptosis of cerebellar granule cells in transgenic mice expressing a PrP insertional 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=1235549

Ataxia in prion protein (PrP)-deficient mice is associated with upregulation of the novel PrP-like protein doppel

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

Prion disease associated with a novel nine octapeptide repeat insertion 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=1235549

Human spongiform encephalopathy: the National Institutes of Health series of 300 cases of experimentally transmitted 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=1235549

Huntington disease without CAG expansion: phenocopies or errors in assignment?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

Molecular cloning of a human prion protein cDNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

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=1235549

Genomic structure of the human prion protein 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=1235549

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=1235549

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

A dementing illness associated with a novel insertion in the prion protein 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=1235549

Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein 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=1235549

Neurological illness in transgenic mice expressing a prion protein with an insertional mutation.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

Complete genomic sequence and analysis of the prion protein gene region from three mammalian species.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235549

28 October 2018

Identifiers

DOI

10.1086/324414

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30 July 2017

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30 July 2017

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