|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
Tafamidis, a Noninvasive Therapy for Delaying Transthyretin Familial Amyloid Polyneuropathy: Systematic Review and Meta-Analysis.
|
30618225 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
<b>Background</b>: Retinal amyloid angiopathy is a sight-threatening complication of familial amyloid polyneuropathy (FAP) caused by pathological deposition of transthyretin.
|
31576772 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
TTR-related amyloidosis (ATTR) is manifested in two allelic forms: familial amyloid polyneuropathy (TTR-FAP) and cardiomyopathy (TTR-FAC), both caused by mutations in the TTR gene.
|
30981840 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Transthyretin amyloidosis (ATTR amyloidosis) is a fatal systemic disease caused by amyloid deposits of misfolded transthyretin, leading to familial amyloid polyneuropathy and/or cardiomyopathy, or a rare oculoleptomeningeal amyloidosis.
|
31001136 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis with polyneuropathy (also known as familial amyloid polyneuropathy) is a condition with adult onset caused by mutation of transthyretin (TTR) and characterized by extracellular deposition of amyloid and destruction of the somatic and autonomic PNS, leading to loss of autonomy and death.
|
31209302 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
Correction to: Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.
|
31113447 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
More than 100 mutations of the transthyretin gene have been reported in autosomal dominant familial amyloid polyneuropathy.
|
30685801 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients.
|
30615214 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
Transthyretin (TTR) familial amyloid polyneuropathy (FAP) (OMIM 176300) shows a variable age-at-onset (AO), including within families.
|
31019999 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Familial amyloid polyneuropathy (FAP) or ATTRv (amyloid TTR variant) amyloidosis is a fatal hereditary disease characterized by the deposition of amyloid fibrils composed of transthyretin (TTR).
|
31253122 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Familial amyloid polyneuropathies (FAPs) are life-threatening, autosomal dominant diseases resulting, in most instances, from transthyretin gene (TTR) variants.
|
30470998 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Distal involvement of autonomic nerve fibers is critical in familial amyloid polyneuropathy (FAP) due to transthyretin (TTR) mutation.
|
30102818 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Ala97Ser (A97S) is the major transthyretin (TTR) mutation in Taiwanese patients of familial amyloid polyneuropathy (FAP), characterized by a late-onset but rapidly deteriorated neuropathy.
|
31502419 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
Transthyretin (TTR)-familial amyloid polyneuropathy (FAP) is a systemic amyloidosis caused by mutations in the TTR gene.
|
31760657 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations.
|
30737830 |
2019 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Sensory nerve degeneration and consequent abnormal sensations are the earliest and most prevalent manifestations of familial amyloid polyneuropathy (FAP) due to amyloidogenic transthyretin (TTR).
|
29423915 |
2018 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy.
|
30333157 |
2018 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
To reappraise the value of electrochemical skin conductance (ESC) measurement by Sudoscan® to assess the distal involvement of small autonomic fibers in familial amyloid polyneuropathy (FAP) due to various transthyretin (TTR) mutations.
|
29883834 |
2018 |
|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.
|
29343286 |
2018 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?
|
30019395 |
2018 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
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 |
|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
Unwanted road to anaemia in transthyretin familial amyloid polyneuropathy may continue irrespective of tafamidis treatment.
|
29310464 |
2018 |
|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
Estimating the global prevalence of transthyretin familial amyloid polyneuropathy.
|
29211930 |
2018 |
|
Amyloid Neuropathies, Familial
|
0.700 |
GeneticVariation
|
group |
BEFREE |
Tafamidis delays neurological progression comparably across Val30Met and non-Val30Met genotypes in transthyretin familial amyloid polyneuropathy.
|
29115008 |
2018 |
|
Amyloid Neuropathies, Familial
|
0.700 |
Biomarker
|
group |
BEFREE |
Epidemiology of Transthyretin Familial Amyloid Polyneuropathy in Portugal: A Nationwide Study.
|
30153683 |
2018 |