Associated Papers
Primary oculoleptomeningeal transthyretin amyloidosis with subarachnoid hemorrhages, visual loss, and heart and skin amyloid deposits.
Francia A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics.
Galanti K et al.
Esc Heart Failure, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis.
Thimm A et al.
Journal of Neurology, 2023
Clinical images: Granulomatosis with polyangiitis and transthyretin-related amyloidosis.
Grimalauskas-Suchina J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2022
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.
Tzagournissakis M et al.
Neurology. Genetics, 2022
Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage.
Shen J et al.
Frontiers in Genetics, 2022
Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis.
Dohrn MF et al.
Neurological Research and Practice, 2021
Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.
Rowczenio D et al.
Human Mutation, 2019
A mouse model of a novel missense mutation (Gly83Arg) in a Chinese kindred manifesting vitreous amyloidosis only.
Ran LX et al.
Experimental Eye Research, 2018
Familial vitreous amyloidosis resulting from transthyretin variant Gly83Arg.
Xie B et al.
Acta Ophthalmologica, 2017
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation.
Lv W et al.
Eye (london, England), 2014
Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families.
Zhang AM et al.
Molecular Vision, 2013
Familial amyloid polyneuropathy associated with the novel transthyretin variant Arg34Gly.
Levy J et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2012
A new Arg54Gly transthyretin gene mutation associated with vitreous amyloidosis in Chinese.
Shi Y et al.
Eye Science, 2011
[Transthyretin Arg-83 mutation in vitreous amyloidosis].
Chen L et al.
Yan Ke Xue Bao = Eye Science, 2008
Ophthalmological manifestations of hereditary transthyretin amyloidosis.
Gondim FAA et al.
Arquivos Brasileiros De Oftalmologia, 0