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Rare and hereditary disorders
Hereditary ATTR amyloidosis
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Publications and studies (1285)
- Repositioning of the Anthelmintic Drugs Bithionol and Triclabendazole as Transthyretin Amyloidogenesis Inhibitors. (2021/10/14) ♡
- Serial scanning with (99m)Tc-3, 3-diphosphono-1, 2-propanodicarboxylic acid ((99m)Tc-DPD) for early detection of cardiac amyloid deposition and prediction of clinical worsening in subjects carrying a transthyretin gene mutation. (2021/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. What is the optimal cardiac screening for asymptomatic transthyretin gene mutation carriers? (2021/10/01) ♡
- Sex-Related Risk of Cardiac Involvement in Hereditary Transthyretin Amyloidosis: Insights From THAOS. (2021/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program. (2021/10/01) ♡
- 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. Prevalence and Outcomes of p.Val142Ile TTR Amyloidosis Cardiomyopathy: A Systematic Review. (2021/10/01) ♡
- Compassionate drug use for patients with transthyretin amyloid cardiomyopathy. (2021/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Nationwide prevalence and characteristics of transthyretin amyloid cardiomyopathy in Sweden. (2021/10/01) ♡
- New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies. (2021/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis. (2021/10/01) ♡
- 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. Current and Emerging Therapies for Hereditary Transthyretin Amyloidosis: Strides Towards a Brighter Future. (2021/10/01) ♡
- Utility of Neuropathy Screening for Wild-Type Transthyretin Amyloidosis Patients. (2021/09/01) ♡
- 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. Transthyretin cardiac amyloidosis: a review of the nuclear imaging findings with emphasis on the radiotracers mechanisms. (2021/09/01) ♡
- Disease-associated mutations impacting BC-loop flexibility trigger long-range transthyretin tetramer destabilization and aggregation. (2021/09/01) ♡
- 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. Transthyretin Cardiac Amyloidosis and Novel Therapies to Treat This Not-so-rare Cause of Cardiomyopathy. (2021/09/01) ♡
- Anterior-Segment Deposits in Transthyretin Amyloidosis. (2021/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. In Vitro and In Vivo Effects of SerpinA1 on the Modulation of Transthyretin Proteolysis. (2021/08/31) ♡
- Inhibitory activities of anthraquinone and xanthone derivatives against transthyretin amyloidogenesis. (2021/08/15) ♡
- Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining. (2021/08/11) ♡
- Differences in the characteristics and contemporary cardiac outcomes of patients with light-chain versus transthyretin cardiac amyloidosis. (2021/08/09) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis. (2021/08/05) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Gene Editing - A Cure for Transthyretin Amyloidosis? (2021/08/05) ♡
- Effects of sporadic transthyretin amyloidosis frequently on the gallbladder and the correlation between amyloid deposition in the gallbladder and heart: A forensic autopsy-based histopathological evaluation. (2021/08/01) ♡
- Early Diagnosis and Outcome in Patients With Wild-Type Transthyretin Cardiac Amyloidosis. (2021/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. CRISPR Hits Home in a First-in-Human Study. (2021/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Clinical Milestone for CRISPR Medicines. (2021/08/01) ♡
- Screening for hereditary transthyretin amyloidosis in Bulgaria. (2021/08/01) ♡
- 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 Ultrastructure of Tissue Damage by Amyloid Fibrils. (2021/07/29) ♡
- Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features. (2021/07/28) ♡
- Renal Involvement in Hereditary Transthyretin Amyloidosis: An Italian Single-Centre Experience. (2021/07/24) ♡
- Identification of Transthyretin Tetramer Kinetic Stabilizers That Are Capable of Inhibiting the Retinol-Dependent Retinol Binding Protein 4-Transthyretin Interaction: Potential Novel Therapeutics for Macular Degeneration, Transthyretin Amyloidosis, and Their Common Age-Related Comorbidities. (2021/07/08) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Gene editor injected into the body treats disease. (2021/07/02) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Transthyretin amyloidosis and herpes zoster infection: a mimic of temporal arteritis. (2021/06/24) ♡
- 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. Ocular Involvement in Hereditary Amyloidosis. (2021/06/22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers. (2021/06/18) ♡
- New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden. (2021/06/01) ♡
- Real-world outcomes in non-endemic hereditary transthyretin amyloidosis with polyneuropathy: a 20-year German single-referral centre experience. (2021/06/01) ♡
- Cardiac transthyretin amyloidosis (99m)Tc-DPD SPECT correlates with strain echocardiography and biomarkers. (2021/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An overlooked cause of palpitations. (2021/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Value of SPECT imaging in patients with TTR-amyloid: ratios are not enough. (2021/04/01) ♡
- Poor right ventricular function is associated with impaired exercise capacity and ventilatory efficiency in transthyretin cardiac amyloid patients. (2021/04/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis. (2021/04/01) ♡
- Prevalence and prognostic value of autonomic neuropathy assessed by Sudoscan® in transthyretin wild-type cardiac amyloidosis. (2021/04/01) ♡
- Plasma growth differentiation factor 15: a novel tool to detect early changes of hereditary transthyretin amyloidosis. (2021/04/01) ♡
- 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. Unusual Pain Disorders - What Can Be Learned from Them? (2021/03/15) ♡
- Anticoagulation with warfarin compared to novel oral anticoagulants for atrial fibrillation in adults with transthyretin cardiac amyloidosis: comparison of thromboembolic events and major bleeding. (2021/03/01) ♡
- A low amyloidogenic E61K transthyretin mutation may cause familial amyloid polyneuropathy. (2021/03/01) ♡
- Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis. (2021/03/01) ♡
- Subclinical retinal angiopathy associated with hereditary transthyretin amyloidosis - assessed with optical coherence tomography angiography. (2021/03/01) ♡
- 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. Advances in pharmacotherapy for cardiac amyloidosis. (2021/03/01) ♡
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