(Q33734406)

29 July 2017

Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study (English)

1 reference

29 July 2017

Reilly MM

1

1 reference

29 July 2017

Staunton H

series ordinal

2

1 reference

29 July 2017

Harding AE

series ordinal

3

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 July 1995

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

29 July 2017

1 reference

29 July 2017

59

1 reference

29 July 2017

1

1 reference

29 July 2017

45-49

1 reference

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

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073600

Familial amyloid polyneuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073600

Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073600

A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073600

Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073600

Hereditary amyloid polyneuropathy in north west Ireland.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073600

Irish (Donegal) amyloidosis is associated with the transthyretinALA60 (Appalachian) variant.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073600

Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073600

Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073600

Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30)

30 October 2018

1 reference

12 December 2020

The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect

1 reference

12 December 2020

Familial amyloid polyneuropathy: alanine-for-threonine substitution in the transthyretin (prealbumin) molecule

1 reference

12 December 2020

Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations

1 reference

12 December 2020

Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid

1 reference

12 December 2020

Haplotype analysis of familial amyloidotic polyneuropathy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.59.1.45

1 reference

29 July 2017

1 reference

29 July 2017

1 reference