Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy

(2020) David Adams et al.   JOURNAL OF NEUROLOGY

Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care

(2020) Marco Luigetti et al.   Therapeutics and Clinical Risk Management

Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis

(2019) Joel N. Buxbaum et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations*

(2019) Isabel Conceição et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease

(2019) David Adams et al.   Nature Reviews Neurology

Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent

(2018) Adeline Bonnard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Guidelines for Performing a Comprehensive Transthoracic Echocardiographic Examination in Adults: Recommendations from the American Society of Echocardiography

(2018) Carol Mitchell et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Cardiac ATTR amyloid nuclear imaging—not all bone scintigraphy radionuclide tracers are created equal

(2017) Ji Can Yang et al.   JOURNAL OF NUCLEAR CARDIOLOGY

Accuracy of 99mTc-Hydroxymethylene diphosphonate scintigraphy for diagnosis of transthyretin cardiac amyloidosis

(2017) Francesco Cappelli et al.   JOURNAL OF NUCLEAR CARDIOLOGY

1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa

(2017) Paola Mandich et al.   Molecular Genetics & Genomic Medicine

Nonbiopsy Diagnosis of Cardiac Transthyretin AmyloidosisCLINICAL PERSPECTIVE

(2016) Julian D. Gillmore et al.   CIRCULATION

Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

(2016) Laura Obici et al.   CURRENT OPINION IN NEUROLOGY

2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure

(2016) Piotr Ponikowski et al.   EUROPEAN HEART JOURNAL

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

(2016) A. Cortese et al.   JOURNAL OF NEUROLOGY

Presymptomatic ALS genetic counseling and testing

(2016) Michael Benatar et al.   NEUROLOGY

Cardiac amyloidosis: the great pretender

(2015) Claudio Rapezzi et al.   HEART FAILURE REVIEWS

Differential Myocyte Responses in Patients with Cardiac Transthyretin Amyloidosis and Light-Chain Amyloidosis: A Cardiac MR Imaging Study

(2015) Marianna Fontana et al.   RADIOLOGY

Bone scintigraphy with99mtechnetium-hydroxymethylene diphosphonate allows early diagnosis of cardiac involvement in patients with transthyretin-derived systemic amyloidosis

(2014) Andor W. J. M. Glaudemans et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

FAP Neuropathy and Emerging Treatments

(2014) David Adams et al.   Current Neurology and Neuroscience Reports

Transthyretin-derived amyloidosis: Probably a common cause of lumbar spinal stenosis

(2014) Per Westermark et al.   UPSALA JOURNAL OF MEDICAL SCIENCES

Commercial Clinical Genetic Sequencing Panels for Evaluating Patients with Familial Disease-Are They Ready for Prime Time?

(2013) Arthur Feldman   CTS-Clinical and Translational Science

Neurophysiological markers of small fibre neuropathy in TTR-FAP mutation carriers

(2013) Jean-Pascal Lefaucheur et al.   JOURNAL OF NEUROLOGY

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

(2013) A. Chio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Neurophysiological techniques to detect early small-fiber dysfunction in transthyretin amyloid polyneuropathy

(2013) Isabel Conceição et al.   MUSCLE & NERVE

Recommendations for the predictive genetic test in Huntington's disease

(2012) R MacLeod et al.   CLINICAL GENETICS

Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions

(2012) Heather Skirton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients

(2012) Marco Luigetti et al.   NEUROLOGICAL SCIENCES

Papel de la gammagrafía cardiaca con 99mTc-DPD en la discriminación del subtipo de amiloidosis cardiaca

(2012) F. Javier de Haro-del Moral et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients

(2011) Manuel Cappellari et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Familial amyloid polyneuropathy

(2011) Violaine Planté-Bordeneuve et al.   LANCET NEUROLOGY

Patterns of Neuropathy and Autonomic Failure in Patients With Amyloidosis

(2009) Annabel K. Wang et al.   MAYO CLINIC PROCEEDINGS

Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy

(2008) Anita Graceffa et al.   NEUROMUSCULAR DISORDERS