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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest.
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26286643 |
2016 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Liver transplantation had beneficial effects on FAP clinical manifestations in patients with FAP TTR V30M.
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26763274 |
2016 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Sural nerve biopsy specimens from 49 patients with familial amyloid polyneuropathy (FAP) with transthyretin Val30Met mutation were assessed.
|
27794111 |
2016 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment.
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27884058 |
2016 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met.
|
28327574 |
2017 |
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rs28933979
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|
|
0.100 |
GeneticVariation |
BEFREE |
Cardiac sympathetic denervation detected by iodine-123 labeled metaiodobenzylguanidine (MIBG) is an important prognostic marker in TTR-V30M FAP.
|
28479268 |
2017 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD).
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28813711 |
2017 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (PST) for two late-onset neurological diseases, Huntington disease (HD) and TTR (transthyretin protein) familial amyloid polyneuropathy (FAP) Val30Met (now classified as Val50Met).
|
29581083 |
2018 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the Non-Val30Met group no differences were found between DR and FAP patients pre-LT. TTR-amyloidosis symptoms showed no differences in FAP patients pre- and 5 years post-LT, irrespective of Val30Met status.
|
30091268 |
2018 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our aim was to investigate whether large normal repeat alleles of 10 genes had a possible modifier effect in AO in Portuguese TTR-FAP Val30Met families.
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30615214 |
2019 |
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rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
As found in a study in Cyprus, we confirmed the role of complement <i>C1Q</i> genes (and thus of inflammation) as modulator of AO in Portuguese patients with TTR-FAP Val30Met.
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31019999 |
2019 |