Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus
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D. Pareyson | C. Gemelli | M. Grandis | C. Briani | P. Mandich | F. Benedicenti | A. Mazzeo | C. Danesino | F. Manganelli | L. Obici | S. Tozza | F. Perfetto | F. Cappelli | M. Luigetti | G. Bisogni | P. Rimessi | M. Canepa | G. Tini | L. Pradotto | L. Trevisan | G. Fabrizi | G. Ferrandes | S. Fenu | L. Melchiorri
[1] M. Sabatelli,et al. Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care , 2020, Therapeutics and clinical risk management.
[2] P. Hawkins,et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy , 2020, Journal of Neurology.
[3] C. Autore,et al. Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis. , 2019, JACC. Cardiovascular imaging.
[4] M. Slama,et al. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease , 2019, Nature Reviews Neurology.
[5] C. Lemos,et al. Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal. , 2019, Acta medica portuguesa.
[6] M. Emdin,et al. Accuracy of 99mTc-Hydroxymethylene diphosphonate scintigraphy for diagnosis of transthyretin cardiac amyloidosis , 2019, Journal of Nuclear Cardiology.
[7] I. Conceição,et al. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations* , 2019, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.
[8] O. Suhr. Commentary to Isabel Conceição et al. early diagnosis through targeted follow-up of identified carriers of TTR gene mutations , 2019, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.
[9] G. Merlini,et al. Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis , 2019, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.
[10] Eric J Velazquez,et al. Guidelines for Performing a Comprehensive Transthoracic Echocardiographic Examination in Adults: Recommendations from the American Society of Echocardiography. , 2019, Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography.
[11] J. Fox,et al. Cardiac ATTR amyloid nuclear imaging—not all bone scintigraphy radionuclide tracers are created equal , 2018, Journal of Nuclear Cardiology.
[12] A. Durr,et al. Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent , 2018, European Journal of Human Genetics.
[13] D. Adams,et al. Familial amyloid polyneuropathy , 2017, Current opinion in neurology.
[14] G. Abbruzzese,et al. 1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa , 2017, Molecular genetics & genomic medicine.
[15] P. Ponikowski,et al. [2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure]. , 2016, Kardiologia polska.
[16] P. Andersen,et al. Presymptomatic ALS genetic counseling and testing , 2016, Neurology.
[17] James C Moon,et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis , 2016, Circulation.
[18] M. Russo,et al. Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area , 2016, Journal of Neurology.
[19] D. Adams,et al. Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis , 2016, Current opinion in neurology.
[20] G. Vita,et al. Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area , 2015, Journal of neuromuscular diseases.
[21] J. Moon,et al. Differential Myocyte Responses in Patients with Cardiac Transthyretin Amyloidosis and Light-Chain Amyloidosis: A Cardiac MR Imaging Study. , 2015, Radiology.
[22] F. Salvi,et al. Cardiac amyloidosis: the great pretender , 2015, Heart Failure Reviews.
[23] P. Westermark,et al. Transthyretin-derived amyloidosis: Probably a common cause of lumbar spinal stenosis , 2014, Upsala journal of medical sciences.
[24] B. Hazenberg,et al. Bone scintigraphy with 99mtechnetium-hydroxymethylene diphosphonate allows early diagnosis of cardiac involvement in patients with transthyretin-derived systemic amyloidosis , 2014, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.
[25] M. Carvalho,et al. Neurophysiological techniques to detect early small‐fiber dysfunction in transthyretin amyloid polyneuropathy , 2014, Muscle & nerve.
[26] V. Algalarrondo,et al. FAP Neuropathy and Emerging Treatments , 2014, Current Neurology and Neuroscience Reports.
[27] A. Chiò,et al. Genetic counselling in ALS: facts, uncertainties and clinical suggestions , 2013, Journal of Neurology, Neurosurgery & Psychiatry.
[28] M. Lo Monaco,et al. TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients , 2013, Neurological Sciences.
[29] A. Feldman. Commercial Clinical Genetic Sequencing Panels for Evaluating Patients with Familial Disease—Are They Ready for Prime Time? , 2013, Clinical and translational science.
[30] D. Craufurd,et al. Recommendations for the Predictive Genetic Test in Huntington's Disease Committee and Working Group 'genetic Testing Counselling' of the European Huntington Disease Network †, ‡ , 2022 .
[31] J. Lefaucheur,et al. Neurophysiological markers of small fibre neuropathy in TTR-FAP mutation carriers , 2013, Journal of Neurology.
[32] H. Skirton,et al. Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions , 2012, European Journal of Human Genetics.
[33] P. García-Pavía,et al. Role of cardiac scintigraphy with ⁹⁹mTc-DPD in the differentiation of cardiac amyloidosis subtype. , 2012, Revista espanola de cardiologia.
[34] V. Planté-Bordeneuve,et al. Familial amyloid polyneuropathy , 2019, Journal of the Neurological Sciences.
[35] C. Briani,et al. Variable presentations of TTR‐related familial amyloid polyneuropathy in seventeen patients , 2011, Journal of the peripheral nervous system : JPNS.
[36] G. Vita,et al. Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy , 2009, Neuromuscular Disorders.
[37] P. Low,et al. Patterns of neuropathy and autonomic failure in patients with amyloidosis. , 2008, Mayo Clinic proceedings.
[38] M. Benson,et al. The molecular biology and clinical features of amyloid neuropathy , 2007, Muscle & nerve.
[39] A. Sousa,et al. Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. , 2003, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[40] M. Saraiva,et al. Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). , 1984, The Journal of clinical investigation.
[41] Volkmar Falk,et al. 2016 ESC Guidelines for the Diagnosis and Treatment of Acute and Chronic Heart Failure. , 2016, Revista espanola de cardiologia.
[42] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..