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Rare and hereditary disorders
Hereditary ATTR amyloidosis
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Publications and studies (1285)
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Assessment of the effects of transthyretin peptide inhibitors in Drosophila models of neuropathic ATTR. (2018/12/01) ♡
- Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset. (2018/12/01) ♡
- Cause of death analysis and temporal trends in survival after liver transplantation for transthyretin familial amyloid polyneuropathy. (2018/12/01) ♡
- Sudoscan in the evaluation and follow-up of patients and carriers with TTR mutations: experience from an Italian Centre. (2018/12/01) ♡
- Electrochemical skin conductance in hereditary amyloidosis related to transthyretin V30M - a promising tool to assess treatment efficacy? (2018/12/01) ♡
- Hepatocyte-like cells reveal novel role of SERPINA1 in transthyretin amyloidosis. (2018/11/26) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Oligonucleotide Drugs for Transthyretin Amyloidosis. (2018/11/22) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Oligonucleotide Drugs for Transthyretin Amyloidosis. (2018/11/22) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Oligonucleotide Drugs for Transthyretin Amyloidosis. (2018/11/22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy. (2018/11/20) ♡
- Kind and distribution of cutaneous sensation loss in hereditary transthyretin amyloidosis with polyneuropathy. (2018/11/15) ♡
- The morphology of amyloid fibrils and their impact on tissue damage in hereditary transthyretin amyloidosis: An ultrastructural study. (2018/11/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Teaching NeuroImages: Morphology of lumbosacral dorsal root ganglia and plexus in hereditary transthyretin amyloidosis. (2018/11/06) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Outcomes After Cardiac Transplant for Wild Type Transthyretin Amyloidosis. (2018/11/01) ♡
- Prevalence of wild type ATTR assessed as myocardial uptake in bone scan in the elderly population. (2018/11/01) ♡
- Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients. (2018/11/01) ♡
- Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning? (2018/11/01) ♡
- [What gnaws at the heart and gets on the nerves]. (2018/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Scalloped Pupil in a Patient With Familial Amyloid Polyneuropathy. (2018/11/01) ♡
- Progression of transthyretin (TTR) amyloidosis in donors and recipients after domino liver transplantation-a prospective single-center cohort study. (2018/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis. (2018/11/01) ♡
- Blood-based microRNA profiling in patients with cardiac amyloidosis. (2018/10/17) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise". (2018/10/04) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cardiac ATTR amyloid nuclear imaging-not all bone scintigraphy radionuclide tracers are created equal. (2018/10/01) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Diagnostic accuracy of bone scintigraphy in the assessment of cardiac transthyretin-related amyloidosis: a bivariate meta-analysis. (2018/10/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Features of atrial fibrillation in wild-type transthyretin cardiac amyloidosis: a systematic review and clinical experience. (2018/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure. (2018/10/01) ♡
- FDA approves patisiran to treat hereditary transthyretin amyloidosis. (2018/10/01) ♡
- Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis. (2018/10/01) ♡
- Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis. (2018/09/25) ♡
- Enthalpy-Driven Stabilization of Transthyretin by AG10 Mimics a Naturally Occurring Genetic Variant That Protects from Transthyretin Amyloidosis. (2018/09/13) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. (2018/09/13) ♡
- Alnylam launches era of RNAi drugs. (2018/09/06) ♡
- Abnormal small bowel motility in patients with hereditary transthyretin amyloidosis. (2018/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Failure of Tafamidis to Halt Progression of Ala36Pro TTR Oculomeningovascular Amyloidosis. (2018/09/01) ♡
- Epigallocatechin-3-gallate tolerability and impact on survival in a cohort of patients with transthyretin-related cardiac amyloidosis. A single-center retrospective study. (2018/09/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Treatment success in hereditary transthyretin amyloidosis. (2018/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A library of ATTR amyloidosis patient-specific induced pluripotent stem cells for disease modelling and in vitro testing of novel therapeutics. (2018/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of transthyretin amyloidosis with myopathy, neuropathy, and cardiomyopathy resulting from an exceedingly rare mutation transthyretin Ala120Ser (c.418G > T, p.Ala140Ser). (2018/09/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Inotersen: First Global Approval. (2018/09/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial. (2018/09/01) ♡
- Seven factors predict a delayed diagnosis of cardiac amyloidosis. (2018/09/01) ♡
- Right ventricular involvement in transthyretin amyloidosis. (2018/09/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. [The Changing Appearance of Cardiac Amyloidosis]. (2018/09/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Becoming familiar with hereditary transthyretin amyloidosis, a treatable neuropathy. (2018/09/01) ♡
- Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy. (2018/09/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in Japan. (2018/09/01) ♡
- Myocardial native T2 measurement to differentiate light-chain and transthyretin cardiac amyloidosis and assess prognosis. (2018/08/16) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Pharmacokinetics of tafamidis, a transthyretin amyloidosis drug, in rats. (2018/08/01) ♡
- True, true unrelated? Coexistence of Waldenström macroglobulinemia and cardiac transthyretin amyloidosis. (2018/08/01) ♡
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