(Q30651190)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author

José Luís Ducla-Soares

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

Maria João Saraiva

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

M de Carvalho

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

P Moreira

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

T Evangelista

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M Bento

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

R Fernandes

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

publication date

1 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

1016-1021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

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

8 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Identifying proteins from two-dimensional gels by molecular mass searching of peptide fragments in protein sequence databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Electroneurophysiological studies in familial amyloid polyneuropathy--Portuguese type

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Biochemical marker in familial amyloidotic polyneuropathy, Portuguese type. Family studies on the transthyretin (prealbumin)-methionine-30 variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Quantitative sweat testing using acetylcholine for direct and axon reflex mediated stimulation with silicone mold recording; controls versus neuropathic diabetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Transthyretin Ser6 as a neutral polymorphism in familial amyloidotic polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

A new transthyretin variant (His 69) associated with vitreous amyloid in an FAP family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Transthyretin Leu 68 in a form of cardiac amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Peripheral nerve pathological findings in familial amyloid polyneuropathy: a correlative study of proximal sciatic nerve and sural nerve lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Bulbar palsy in senile onset familial amyloid polyneuropathy (30Val-->Met): transthyretin-amyloid deposits in the hypoglossal nerve root

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

Type I familial amyloid polyneuropathy. A pathological study of the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

TTR exon scanning in peripheral neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1097-4598%28200007%2923%3A7%3C1016%3A%3AAID-MUS3%3E3.0.CO%3B2-W

10.1002/1097-4598(200007)23:7<1016::AID-MUS3>3.0.CO;2-W

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10882995%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference