Associated Papers
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Effects of Tafamidis Meglumine on Transient Focal Neurological Episodes and Meningeal Contrast Enhancement in Hereditary Transthyretin-Related Meningeal Amyloidosis: Report of Two Patients Carrying the c.265T>C (p.Y89H) Variant.
Saito N et al.
Brain and Behavior, 2025
[A case report of leptomeningeal amyloidosis presenting with meningoencephalitis-resembling manifestations in a 54-year-old woman].
Suzuki N et al.
Rinsho Shinkeigaku = Clinical Neurology, 2025
Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.
Sekijima Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Hereditary leptomeningeal transthyretin amyloidosis with heterozygous TTR mutation: a case report and literature review.
Chen HT et al.
Orphanet Journal of Rare Diseases, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
[Case of hereditary Y69H (p.Y89H) transthyretin variant leptomeningeal amyloidosis presenting with drop attacks and recurrent transient language disorder].
Saito N et al.
Rinsho Shinkeigaku = Clinical Neurology, 2023
Distribution and progression of cerebral amyloid angiopathy in early-onset V30M (p.V50M) hereditary ATTR amyloidosis.
Takahashi Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023
CSF/plasma levels, transthyretin stabilisation and safety of multiple doses of tolcapone in subjects with hereditary ATTR amyloidosis.
Takahashi Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
Cerebellar and Cerebral Amyloid Visualized by [18F]flutemetamol PET in Long-Term Hereditary V30M (p.V50M) Transthyretin Amyloidosis Survivors.
Uneus EI et al.
Frontiers in Neurology, 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
Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations.
Qin Q et al.
The Neurologist, 2021
Non-invasive detection and differentiation of cardiac amyloidosis using 99mTc-pyrophosphate scintigraphy and 11C-Pittsburgh compound B PET imaging.
Takasone K et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020
Oculoleptomeningeal Amyloidosis Due to Transthyretin p.Y89H (Y69H) Variant.
Quintanilha GS et al.
Journal of Neuropathology and Experimental Neurology, 2020
A case of cerebral amyloid angiopathy-type hereditary ATTR amyloidosis with Y69H (p.Y89H) variant displaying transient focal neurological episodes as the main symptom.
Yamada Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019
The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.
Fan K et al.
Journal of Neurology, 2019
Rare Genetic Variants of the Transthyretin Gene Are Associated with Alzheimer's Disease in Han Chinese.
Xiang Q et al.
Molecular Neurobiology, 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
Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden.
Suhr OB et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2009