Associated Papers
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
[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
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.
Senem I et al.
Journal of Neurology, 2025
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Bhatt K et al.
Journal of the American Heart Association, 2024
TTR associated leptomeningeal amyloidosis in a Sri Lankan patient.
Muthukumarasamy M et al.
Journal of the Neurological Sciences, 2024
Transthyretin mutagenesis: impact on amyloidogenesis and disease.
Almeida ZL et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study.
Nakamura K et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024
Structural and thermodynamic characterization of a highly amyloidogenic dimer of transthyretin involved in a severe cardiomyopathy.
Martins LDA et al.
The Journal of Biological Chemistry, 2024
Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.
Žebrauskienė D et al.
Medicina (kaunas, Lithuania), 2024
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
Leptomeningeal Disease Secondary to Thr60Ala Transthyretin Amyloidosis: Case Report and Review of the Literature.
Carberry N et al.
The Neurohospitalist, 2023
Prevalence estimation of ATTRv in China based on genetic databases.
Yongsheng Z et al.
Frontiers in Genetics, 2023
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.
He X et al.
Orphanet Journal of Rare Diseases, 2022
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Surgically treated intradural spinal manifestation of hereditary amyloidogenic transthyretin amyloidosis - A case report and scoping review of the literature.
Voglis S et al.
Brain & Spine, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration.
Ibrahim RB et al.
Cellular and Molecular Life Sciences : Cmls, 2020
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
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis.
Coelho T et al.
Neurology and Therapy, 2016
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Sekijima Y
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Recent progress in the understanding and treatment of transthyretin amyloidosis.
Sekijima Y
Journal of Clinical Pharmacy and Therapeutics, 2014
[Clinical diversity, diagnosis and treatment of hereditary amyloid neuropathy].
Sekijima Y
Rinsho Shinkeigaku = Clinical Neurology, 2014