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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients.
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30615214 |
2019 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Tafamidis delays neurological progression comparably across Val30Met and non-Val30Met genotypes in transthyretin familial amyloid polyneuropathy.
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29115008 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy.
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30333157 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?
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30019395 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage.TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms.Phenotypic and genetic variability and non-disease-specific symptoms often delay diagnosis and lead to misdiagnosis.
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29343286 |
2018 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP Val30Met) shows a wide variation in age-at-onset (AO) between generations and genders, as in Portuguese families, where women display a later onset and a larger anticipation (>10 years).
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29018163 |
2018 |
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rs28933979
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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
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0.100 |
GeneticVariation |
BEFREE |
We show that NUCB1 inhibits aggregation of islet-amyloid polypeptide associated with type 2 diabetes mellitus, a-synuclein associated with Parkinson's disease, transthyretin V30M mutant associated with familial amyloid polyneuropathy, and Aβ42 associated with Alzheimer's disease by stabilizing their respective protofibril intermediates.
|
28220836 |
2017 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
The pivotal studies on Tafamidis reported encouraging results on the short term, in the early onset Val30Met-TTR-FAP patients at an early stage of the neuropathy.
|
27878441 |
2017 |
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rs28933979
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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).
|
28813711 |
2017 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Tafamidis, a non-NSAID highly specific transthyretin stabilizer, delayed neurologic disease progression as measured by Neuropathy Impairment Score-Lower Limbs (NIS-LL) in an 18-month, double-blind, placebo-controlled randomized trial in 128 patients with early-stage transthyretin V30M familial amyloid polyneuropathy (ATTRV30M-FAP).
|
28393570 |
2017 |
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rs28933979
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|
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 and peripheral vasomotor autonomic functions in late-onset transthyretin Val30Met familial amyloid polyneuropathy.
|
28983659 |
2017 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Effects of tafamidis treatment on transthyretin (TTR) stabilization, efficacy, and safety in Japanese patients with familial amyloid polyneuropathy (TTR-FAP) with Val30Met and non-Val30Met: A phase III, open-label study.
|
26944161 |
2016 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Familial amyloid polyneuropathy (FAP) with leptomeningeal involvement has been described in 9% of transthyretin (TTR) mutations and in valine for methionine at position 30 (V30M) patients.
|
27884058 |
2016 |
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rs28933979
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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.
|
26286643 |
2016 |
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rs28933979
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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
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0.100 |
GeneticVariation |
BEFREE |
Since liver transplant (LT) was introduced to treat patients with familial amyloid polyneuropathy carrying the V30M mutation (ATTR-V30M), ocular and cardiac complications have developed.
|
25091367 |
2015 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid polyneuropathy (TTR Val30Met) in a Japanese endemic area.
|
25060417 |
2014 |
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rs28933979
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0.100 |
GeneticVariation |
BEFREE |
Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas.
|
22228785 |
2012 |
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rs28933979
|
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0.100 |
GeneticVariation |
BEFREE |
Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis.
|
21463231 |
2011 |
|
rs28933979
|
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0.100 |
GeneticVariation |
BEFREE |
Spinal cord stimulation markedly ameliorated refractory neuropathic pain in transthyretin Val30Met familial amyloid polyneuropathy.
|
21504341 |
2011 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy.
|
20132088 |
2010 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
The Val30Met transthyretin familial amyloid polyneuropathy (TTR-V30M-FAP) is the most frequent familial amyloidosis, with autosomal dominant transmission.
|
20234390 |
2010 |
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rs28933979
|
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|
0.100 |
GeneticVariation |
BEFREE |
The significance of carpal tunnel syndrome in transthyretin Val30Met familial amyloid polyneuropathy.
|
19626479 |
2009 |