Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population (Q37335475)

19 August 2017

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

1 reference

Violaine Planté-Bordeneuve

19 August 2017

0 references

1 reference

6

object named as

Violaine Planté-Bordeneuve

0 references

Urban Hellman

object named as

Urban Hellman

1

0 references

Ole B. Suhr

object named as

Ole B Suhr

4

0 references

author name string

Flora Alarcon

2

1 reference

19 August 2017

Hans-Erik Lundgren

3

1 reference

19 August 2017

Catherine Bonaiti-Pellié

5

1 reference

19 August 2017

1 September 2008

1 reference

19 August 2017

1 reference

19 August 2017

15

1 reference

19 August 2017

3

1 reference

19 August 2017

181-186

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

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

6 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

6 September 2017

https://api.crossref.org/works/10.1080%2F13506120802193720

Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Cure model analysis in cancer: an application to data from the Children's Cancer Group

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Transthyretin mutations in hyperthyroxinemia and amyloid diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Transthyretin related familial amyloid polyneuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Oxidative stress is found in amyloid deposits in systemic amyloidosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Heart transplantation in a 68-year-old patient with senile systemic amyloidosis.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Discordant penetrance of the trait for familial amyloidotic polyneuropathy in two pairs of monozygotic twins

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Occupational and other risk factors for clinically overt familial amyloid polyneuropathy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2738945

Advanced glycation end product in familial amyloidotic polyneuropathy (FAP)

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1080%2F13506120802193720

Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences

21 January 2018

1 reference

12 December 2020

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy

1 reference

12 December 2020

Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients

1 reference

12 December 2020

The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation

1 reference

12 December 2020

10.1080/13506120802193720

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

18925456

1 reference