(Q36976959)

17 August 2017

Transthyretin gene mutations in British and French patients with amyloid neuropathy (English)

1 reference

17 August 2017

Bhatia K

1

1 reference

17 August 2017

Reilly M

2

1 reference

17 August 2017

Adams D

3

1 reference

17 August 2017

Davis MB

4

1 reference

17 August 2017

Hawkes CH

5

1 reference

17 August 2017

Thomas PK

6

1 reference

17 August 2017

Said G

7

1 reference

17 August 2017

Harding AE

8

1 reference

17 August 2017

language of work or name

English

0 references

publication date

1 June 1993

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

17 August 2017

1 reference

17 August 2017

56

1 reference

17 August 2017

6

1 reference

17 August 2017

694-697

1 reference

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

Recent advances in the molecular pathology of familial amyloid polyneuropathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

Diagnosis of familial amyloidotic polyneuropathy in France

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=489622

Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin

4 December 2018

1 reference

12 December 2020

Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type I by Southern blot procedures: study of six pedigrees in the Arao district of Japan

1 reference

12 December 2020

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

1 reference

12 December 2020

A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy

1 reference

12 December 2020

Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

1 reference

12 December 2020

Development of human chromosome-specific PCR primers for characterization of somatic cell hybrids

1 reference

12 December 2020

Molecular genetics of amyloid neuropathy in Europe

1 reference

12 December 2020

A new mutation causing familial amyloidotic polyneuropathy

1 reference

12 December 2020

Transthyretin (prealbumin) in familial amyloidotic polyneuropathy: genetic and functional aspects

1 reference

12 December 2020

A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases

1 reference

12 December 2020

Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.56.6.694

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

8509786

1 reference