(Q43444644)

23 November 2017

title

Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation (English)

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23 November 2017

main subject

fatal familial insomnia

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7

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23 November 2017

Miguel A Alfonso-Sánchez

Miguel A Alfonso-Sánchez

2

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José A. Peña

José A Peña

3

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Sabina Capellari

Sabina Capellari

6

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Marian M. de Pancorbo

Marian M de Pancorbo

9

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Inga Zerr

5

Inga Zerr

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23 November 2017

author name string

Ana B Rodríguez-Martínez

1

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23 November 2017

Raquel Sánchez-Valle

4

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23 November 2017

Juan J Zarranz

8

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23 November 2017

publication date

18 March 2008

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23 November 2017

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23 November 2017

volume

9

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23 November 2017

issue

2

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23 November 2017

page(s)

109-118

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

23 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0120-X

Phenotypic variability in fatal familial insomnia (D178N-129M) genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0120-X

Fatal familial insomnia: clinical and pathologic heterogeneity in genetic half brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0120-X

The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0120-X

Estimating divergence time with the use of microsatellite genetic distances: impacts of population growth and gene flow

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0120-X

Genetic prion disease: the EUROCJD experience

21 January 2018

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12 December 2020

Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia.

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12 December 2020

From the evolutionary past. .

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12 December 2020

Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews

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12 December 2020

Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy

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12 December 2020

Molecular pathology of fatal familial insomnia

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12 December 2020

Clinical features of fatal familial insomnia: phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene.

1 reference

12 December 2020

The accuracy of statistical methods for estimation of haplotype frequencies: an example from the CD4 locus

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12 December 2020

Estimate of the mutation rate per nucleotide in humans

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12 December 2020

Recent Italian FFI cases.

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12 December 2020

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features.

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12 December 2020

A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations.

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12 December 2020

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

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12 December 2020

Heterogeneous mutation processes in human microsatellite DNA sequences

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12 December 2020

Numerous polymorphic microsatellites in the human prion gene complex (including PRNP, PRND and PRNT).

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12 December 2020

Ancestral origins of the prion protein gene D178N mutation in the Basque Country

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12 December 2020

Features of evolution and expansion of modern humans, inferred from genomewide microsatellite markers

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12 December 2020

Phenotypic variability in familial prion diseases due to the D178N mutation.

1 reference

12 December 2020

Short tandem-repeat polymorphism/alu haplotype variation at the PLAT locus: implications for modern human origins.

1 reference

12 December 2020

PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt-Jakob Disease

1 reference

12 December 2020

Allelic homogeneity in Avellino corneal dystrophy due to a founder effect

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12 December 2020

Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci

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12 December 2020

Sequence variation of the human Y chromosome

1 reference

12 December 2020

Arlequin (version 3.0): an integrated software package for population genetics data analysis

1 reference

12 December 2020

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

1 reference

12 December 2020

Performing the exact test of Hardy-Weinberg proportion for multiple alleles

1 reference

12 December 2020

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

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12 December 2020

Japanese Creutzfeldt-Jakob disease patients exhibiting high incidence of the E200K PRNP mutation and located in the basin of a river

1 reference

12 December 2020

Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.

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12 December 2020

Creutzfeldt-Jakob disease in Germany: a prospective 12-year surveillance

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12 December 2020

FMR1 haplotype analyses among Indians: a weak founder effect and other findings

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12 December 2020

Geography is a better determinant of human genetic differentiation than ethnicity

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12 December 2020

Precision and accuracy of divergence time estimates from STR and SNPSTR variation

1 reference

12 December 2020

ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects

1 reference

12 December 2020

10.1007/S10048-008-0120-X

Identifiers

DOI

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23 November 2017

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