TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance? (Q34329412)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20234390%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance? (English)

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19 January 2020

2

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19 January 2020

Urban Hellman

3

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19 January 2020

Ole B. Suhr

4

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19 January 2020

author name string

Bernard Bonaïti

1

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19 January 2020

Catherine Bonaïti-Pellié

5

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19 January 2020

Violaine Planté-Bordeneuve

6

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19 January 2020

publication date

17 March 2010

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European Journal of Human Genetics

19 January 2020

published in

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19 January 2020

volume

18

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19 January 2020

issue

8

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19 January 2020

page(s)

948-952

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PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history

19 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=2987385

Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

The endoplasmic reticulum: folding, calcium homeostasis, signaling, and redox control

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

Transthyretin-related familial amyloidotic polyneuropathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

Mitochondrial uncoupling proteins--facts and fantasies.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves

6 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

6 July 2018

https://api.crossref.org/works/10.1038%2FEJHG.2010.36

Uncoupling to survive? The role of mitochondrial inefficiency in ageing

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

Mitochondrial DNA variation in human evolution and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

A General Model for the Genetic Analysis of Pedigree Data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987385

Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Póvoa do Varzim and Vila do Conde (north of Portugal).

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.36

Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.36

Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.36

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.36

Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.36

Parent-of-origin effect in transthyretin related amyloid polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.36

Degradation of misfolded proteins prevents ER-derived oxidative stress and cell death

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20234390

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20234390

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20234390

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.36

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19 January 2020

1 reference

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19 January 2020

PubMed publication ID

20234390

1 reference