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Rare and hereditary disorders
Hereditary ATTR amyloidosis
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Publications and studies (1285)
- Nerve ultrasonography findings as possible pitfall in differential diagnosis between hereditary transthyretin amyloidosis with polyneuropathy and chronic inflammatory demyelinating polyneuropathy. (2020/12/01) ♡
- Clinical 3-D Gait Assessment of Patients With Polyneuropathy Associated With Hereditary Transthyretin Amyloidosis. (2020/11/23) ♡
- Proposing a minimal set of metrics and methods to predict probabilities of amyloidosis disease and onset age in individuals. (2020/11/18) ♡
- Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis. (2020/11/17) ♡
- 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 Stabilization: An Emerging Strategy for the Treatment of Alzheimer's Disease? (2020/11/17) ♡
- 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 of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation. (2020/11/04) ♡
- 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. Diagnosis and treatment of transthyretin-related amyloidosis cardiomyopathy. (2020/11/01) ♡
- 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. Humans: the ultimate animal models. (2020/11/01) ♡
- The Clinical Implication of Incidental Prostatic Amyloidosis. (2020/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Negative bone scintigraphy in wild-type transthyretin cardiac amyloidosis. (2020/10/29) ♡
- 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. Lipid-Nucleic Acid Complexes: Physicochemical Aspects and Prospects for Cancer Treatment. (2020/10/28) ♡
- hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers. (2020/10/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Two elderly cases of transthyretin amyloid polyneuropathy without a family history]. (2020/10/24) ♡
- 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. Specific Therapy for Transthyretin Cardiac Amyloidosis: A Systematic Literature Review and Evidence-Based Recommendations. (2020/10/20) ♡
- SERPINA1 modulates expression of amyloidogenic transthyretin. (2020/10/15) ♡
- Digoxin Use in Cardiac Amyloidosis. (2020/10/15) ♡
- Natural History and Disease Progression of Early Cardiac Amyloidosis Evaluated by Echocardiography. (2020/10/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis. (2020/10/11) ♡
- Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis. (2020/10/08) ♡
- 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. Severe Aortic Stenosis and ATTRwt Amyloidosis - Beware in the Aging: A Case Report and Review of the Literature. (2020/10/02) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Imaging cardiac innervation in hereditary transthyretin (ATTRm) amyloidosis: A marker for neuropathy or cardiomyopathy in case of heart failure? (2020/10/01) ♡
- Quantitative (99m)Tc-DPD SPECT/CT in patients with suspected ATTR cardiac amyloidosis: Feasibility and correlation with visual scores. (2020/10/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. The Bioequivalence of Tafamidis 61-mg Free Acid Capsules and Tafamidis Meglumine 4 × 20-mg Capsules in Healthy Volunteers. (2020/10/01) ♡
- Wild-Type Transthyretin Amyloidosis Occurring in the Ligamentum Flavum of the Cervicothoracic Spine. (2020/10/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Neuropathy symptom and change: Inotersen treatment of hereditary transthyretin amyloidosis. (2020/10/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. mNIS+7 and lower limb function in inotersen treatment of hereditary transthyretin-mediated amyloidosis. (2020/10/01) ♡
- 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. Hereditary transthyretin amyloidosis: current treatment. (2020/10/01) ♡
- 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. [Transthyretin cardiac amyloidosis]. (2020/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Oculoleptomeningeal Amyloidosis Due to Transthyretin p.Y89H (Y69H) Variant. (2020/10/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Establishment of an induced pluripotent stem cell line from a patient with hereditary transthyretin amyloidosis carrying transthyretin (TTR) mutation p.Phe53Val. (2020/10/01) ♡
- 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. Understanding and recognizing cardiac amyloidosis. (2020/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Aortic Valve Calcium in Patients With Transthyretin Cardiac Amyloidosis: A Propensity-Matched Analysis. (2020/10/01) ♡
- 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. Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies. (2020/10/01) ♡
- Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. (2020/09/23) ♡
- Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis: a Single-Centre Experience. (2020/09/09) ♡
- Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain. (2020/09/04) ♡
- Peripheral neuropathy symptoms in wild type transthyretin amyloidosis. (2020/09/01) ♡
- The Tenosynovitis of Fingers Associated with Transthyretin Amyloidosis. (2020/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutation. (2020/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Characteristics of Patients with Hereditary Transthyretin Amyloidosis and an Evaluation of the Safety of Tafamidis Meglumine in Japan: An Interim Analysis of an All-case Postmarketing Surveillance. (2020/09/01) ♡
- Transthyretin amyloidosis: A hidden diagnosis. (2020/09/01) ♡
- 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. Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines. (2020/08/14) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Transthyretin interacts with actin regulators in a Drosophila model of familial amyloid polyneuropathy. (2020/08/12) ♡
- Expression of Amyloidogenic Transthyretin Drives Hepatic Proteostasis Remodeling in an Induced Pluripotent Stem Cell Model of Systemic Amyloid Disease. (2020/08/11) ♡
- Prevalence, Incidence, and Impact on Mortality of Conduction System Disease in Transthyretin Cardiac Amyloidosis. (2020/08/01) ♡
- [Suspected cardiac amyloidosis - diagnostic steps for evaluation]. (2020/08/01) ♡
- Stochastic master equation for early protein aggregation in the transthyretin amyloid disease. (2020/07/24) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Cardiac Resynchronization Therapy for Transthyretin Cardiac Amyloidosis. (2020/07/21) ♡
- 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 Progression of Aortic Stenosis Associated With Iatrogenic Variant Transthyretin Amyloidosis After Domino Liver Transplantation. (2020/07/15) ♡
- Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots. (2020/07/14) ♡
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