Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. (Q43595662)

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22 February 2020

title

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M (English)

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22 February 2020

6

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22 February 2020

Carolina Lemos

1

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22 February 2020

Ana Martins da Silva

4

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22 February 2020

Jorge Sequeiros

5

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22 February 2020

Alda Sousa

7

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22 February 2020

author name string

Teresa Coelho

2

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22 February 2020

Miguel Alves-Ferreira

3

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22 February 2020

language of work or name

English

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publication date

17 September 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24046394%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

22 February 2020

published in

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22 February 2020

volume

85

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22 February 2020

issue

3

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22 February 2020

page(s)

326-330

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

22 February 2020

cites work

1 reference

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Pathogenesis of transthyretin amyloidosis

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families

21 January 2018

1 reference

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Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain).

21 January 2018

1 reference

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Trinucleotide repeats not the only cause of anticipation.

21 January 2018

1 reference

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Anticipation in myotonic dystrophy: fact or fiction?

21 January 2018

1 reference

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Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis

21 January 2018

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Anticipation in hereditary disease: the history of a biomedical concept

21 January 2018

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

21 January 2018

1 reference

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Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group

21 January 2018

1 reference

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

21 January 2018

1 reference

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Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions

21 January 2018

1 reference

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Huntington's disease: the case for genetic modifiers

21 January 2018

1 reference

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DNA methylation in schizophrenia subjects: gender and MTHFR 677C/T genotype differences

21 January 2018

1 reference

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Sex differences in β-amyloid accumulation in 3xTg-AD mice: role of neonatal sex steroid hormone exposure

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305383

Genetic anticipation: fact or artifact, genetics or epigenetics?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305383

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

21 January 2018

1 reference

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Parent-of-origin effect in transthyretin related amyloid polyneuropathy

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1136/JNNP-2013-305383

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24046394%20AND%20SRC:MED&resulttype=core&format=json

release_rdgmcycuhfhatogkv5gftoplmm

22 February 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/rdgmcycuhfhatogkv5gftoplmm

mapped directly with Wikidata item

24 November 2022

based on heuristic

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