(Q42082612)

16 October 2017

0 references

Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history (English)

1 reference

16 October 2017

3

Elisabeth Farbu

1 reference

16 October 2017

Thomas Rudolph

1

1 reference

PMC publication ID

2572554

16 October 2017

Martin Wilhelm Kurz

series ordinal

2

1 reference

16 October 2017

7 July 2008

1 reference

Clinical Medicine & Research

16 October 2017

1 reference

16 October 2017

6

1 reference

16 October 2017

2

1 reference

16 October 2017

80-82

1 reference

Cellular consequences of transthyretin deposition

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

Pulsed tissue Doppler and strain imaging discloses early signs of infiltrative cardiac disease: A study on patients with familial amyloidotic polyneuropathy

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease

1 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572554

Impact of liver transplantation on familial amyloidotic polyneuropathy (FAP) patients' symptoms and complications

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18606975

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Haplotype analysis of common transthyretin mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18606975

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sequence Communication: Tabulation of transthyretin (TTR) variants as of 1/1/2000

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18606975

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3121/CMR.2008.794

1 reference

16 October 2017

1 reference

PMC publication ID

2572554

16 October 2017

PubMed publication ID

18606975

1 reference

PMC publication ID

2572554