Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.
about
Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosisSixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAPUpdate in the diagnosis and management of transthyretin familial amyloid polyneuropathy.Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 casesGenotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in FranceVariants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathyFamilial amyloid polyneuropathy in Portugal: New genes modulating age-at-onsetCurrent and future treatment of amyloid neuropathies.Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.Representation of illness in Familial Amyloidotic Polyneuropathy Portuguese Association newspaper: A documental study.Age-dependent cognitive dysfunction in untreated hereditary transthyretin amyloidosis.Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.Familial multiple sclerosis and association with other autoimmune diseases.Anterior Chamber Flare as an Objective and Quantitative Noninvasive Method for Oculopathy in Transthyretin V30M Amyloidosis Patients
P2860
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P2860
Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.
description
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name
Overcoming artefact: anticipat ...... polyneuropathy (FAP) ATTRV30M.
@en
Overcoming artefact: anticipat ...... amilial amyloid polyneuropathy
@nl
type
label
Overcoming artefact: anticipat ...... polyneuropathy (FAP) ATTRV30M.
@en
Overcoming artefact: anticipat ...... amilial amyloid polyneuropathy
@nl
prefLabel
Overcoming artefact: anticipat ...... polyneuropathy (FAP) ATTRV30M.
@en
Overcoming artefact: anticipat ...... amilial amyloid polyneuropathy
@nl
P2860
P50
P356
P1476
Overcoming artefact: anticipat ...... polyneuropathy (FAP) ATTRV30M
@en
P2093
Miguel Alves-Ferreira
Teresa Coelho
P2860
P304
P356
10.1136/JNNP-2013-305383
P407
P577
2013-09-17T00:00:00Z