(Q35484873)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Phenotypic variability in familial prion diseases due to the D178N mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

0 references

Manuel Fernández-Martínez

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

Covadonga Fernández-Maiztegui

8 January 2020

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

Juan Carlos Gómez-Esteban

8 January 2020

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Adolfo López de Munain

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

José Félix Martí Massó

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

J J Zarranz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

A Digon

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

B Atarés

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

A B Rodríguez-Martínez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

A Arce

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

N Carrera

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

I Fernández-Manchola

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

I Forcadas

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

L Galdos

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

A Ibáñez

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

E Lezcano

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

M M Mendibe

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

M Urtasun

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

J M Uterga

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

N Saracibar

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

F Velasco

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

M M de Pancorbo

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

language of work or name

English

0 references

publication date

1 November 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

8 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

1491-1496

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

Familial and sporadic fatal insomnia

8 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

Mutations of the prion protein gene phenotypic spectrum

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

Fatal familial insomnia: a new Austrian family

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

Clinical and genetic studies of fatal familial insomnia.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

Fatal familial insomnia: clinical and pathologic study of five new cases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

Fatal familial insomnia: the first account in a family of Chinese descent

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

The impact of the introduction of the 14-3-3 protein assay in the surveillance of sporadic Creutzfeldt-Jakob disease in Catalonia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

Fatal familial insomnia in a new Italian kindred.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

Sleep-wake cycle abnormalities in fatal familial insomnia. Evidence of the role of the thalamus in sleep regulation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1739400

Familial prion diseases in the Basque Country (Spain)

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16227536

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JNNP.2004.056606

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16227536%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference