Associated Papers
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.
Domínguez-Martínez M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf
Hereditary transthyretin cardiac amyloidosis with Glu109Lys mutation presenting with low sensitivity to 99mTc pyrophosphate in scintigraphy: a case description.
Wei YP et al.
Quantitative Imaging in Medicine and Surgery, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Glu112Lys: a rare pathogenic transthyretin gene variant associated with negative scintigraphy findings.
Holcman K et al.
Polish Archives of Internal Medicine, 2025
Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J et al.
Cardiology and Therapy, 2024
Low-sensitivity 99mTc pyrophosphate scintigraphy for hereditary transthyretin cardiac amyloidosis with Glu112Lys genotype.
Deng Y et al.
European Heart Journal. Cardiovascular Imaging, 2024
Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan.
Matsushima M et al.
Internal Medicine (tokyo, Japan), 2023
[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].
Chumakova OS et al.
Terapevticheskii Arkhiv, 2023
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf
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