Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy

Skin Nerve Pathology: Biomarkers of Premanifest and Manifest Amyloid Neuropathy

(2019) Chi-Chao Chao et al.   ANNALS OF NEUROLOGY

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

(2019) David Adams et al.   Nature Reviews Neurology

Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis

(2019) Mathew S. Maurer et al.   Circulation-Heart Failure

Cardiac denervation evidenced by MIBG occurs earlier than amyloid deposits detection by diphosphonate scintigraphy in TTR mutation carriers

(2018) Eve Piekarski et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Estimating the global prevalence of transthyretin familial amyloid polyneuropathy

(2018) Hartmut H. Schmidt et al.   MUSCLE & NERVE

Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy

(2018) Pierre Lozeron et al.   NEUROLOGY

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

(2018) Merrill D. Benson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Upper limb onset of hereditary transthyretin amyloidosis is common in non‐endemic areas

(2018) M. Théaudin et al.   EUROPEAN JOURNAL OF NEUROLOGY

6MWT performance correlates with peripheral neuropathy but not with cardiac involvement in patients with hereditary transthyretin amyloidosis (hATTR)

(2018) Gian Luca Vita et al.   NEUROMUSCULAR DISORDERS

A new staging system for cardiac transthyretin amyloidosis

(2017) Julian D Gillmore et al.   EUROPEAN HEART JOURNAL

Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan

(2017) Taro Yamashita et al.   JOURNAL OF NEUROLOGY

Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy

(2017) Andrea Cortese et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial

(2017) Peter J. Dyck et al.   MUSCLE & NERVE

Multimodality Imaging of Cardiac Transthyretin Amyloidosis 16 Years After a Domino Liver Transplantation

(2016) M. Y. Bechiri et al.   AMERICAN JOURNAL OF TRANSPLANTATION

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

First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

(2016) David Adams et al.   CURRENT OPINION IN NEUROLOGY

TTR kinetic stabilizers and TTR gene silencing: a new era in therapy for familial amyloidotic polyneuropathies

(2016) David Adams et al.   EXPERT OPINION ON PHARMACOTHERAPY

“Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy

(2016) Isabel Conceição et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Clinical measures in transthyretin familial amyloid polyneuropathy

(2016) Teresa Coelho et al.   MUSCLE & NERVE

Familial amyloid polyneuropathy: When does it stop to be asymptomatic and need a treatment?

(2016) D. Adams et al.   REVUE NEUROLOGIQUE

Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases

(2015) João Melo Beirão et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Evolving landscape in the management of transthyretin amyloidosis

(2015) Philip N. Hawkins et al.   ANNALS OF MEDICINE

Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

(2015) Louise-Laure Mariani et al.   ANNALS OF NEUROLOGY

Brain Microbleeds 12 Years after Orthotopic Liver Transplantation in Val30Met Amyloidosis

(2015) Fabrizio Salvi et al.   Journal of Stroke & Cerebrovascular Diseases

The Val30Met familial amyloid polyneuropathy specific Rasch-built overall disability scale (FAP-RODS©)

(2015) Mariëlle H. J. Pruppers et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Liver transplantation in transthyretin amyloidosis: Issues and challenges

(2015) Andreia Carvalho et al.   LIVER TRANSPLANTATION

Brain Microbleeds 12 Years after Orthotopic Liver Transplantation in Val30Met Amyloidosis

(2015) Fabrizio Salvi et al.   Journal of Stroke & Cerebrovascular Diseases

Yield of Noncardiac Biopsy for the Diagnosis of Transthyretin Cardiac Amyloidosis

(2014) Nowell M. Fine et al.   AMERICAN JOURNAL OF CARDIOLOGY

Familial amyloid polyneuropathy: elaboration of a therapeutic patient education programme, “EdAmyl”

(2014) Marie Théaudin et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs

(2014) Adam Castaño et al.   HEART FAILURE REVIEWS

Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations

(2014) Dorota M. Rowczenio et al.   HUMAN MUTATION

Norfolk QOL-DN: validation of a patient reported outcome measure in transthyretin familial amyloid polyneuropathy

(2014) Etta J. Vinik et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

THAOS: Gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease

(2014) Jonas Wixner et al.   Orphanet Journal of Rare Diseases

An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation

(2013) Pierre Lozeron et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation

(2013) T Liu et al.   EYE

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy

(2013) Maike F. Dohrn et al.   JOURNAL OF NEUROLOGY

Guideline of transthyretin-related hereditary amyloidosis for clinicians

(2013) Yukio Ando et al.   Orphanet Journal of Rare Diseases

Regional difference and similarity of familial amyloidosis with polyneuropathy in France

(2012) David Adams et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Amyloid neuropathies

(2012) David Adams et al.   CURRENT OPINION IN NEUROLOGY

Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective

(2012) C. Rapezzi et al.   EUROPEAN HEART JOURNAL

Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas

(2012) Haruki Koike et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

COMPASS 31: A Refined and Abbreviated Composite Autonomic Symptom Score

(2012) David M. Sletten et al.   MAYO CLINIC PROCEEDINGS

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

(2012) Marco Luigetti et al.   NEUROLOGICAL SCIENCES

Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy

(2012) T. Yamashita et al.   NEUROLOGY

Recent advances in the treatment of familial amyloid polyneuropathy

(2012) David Adams   Therapeutic Advances in Neurological Disorders

Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis

(2011) Haruki Koike et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

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

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

Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy

(2011) Stephane Mathis et al.   MUSCLE & NERVE

Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies

(2011) S. I. van Nes et al.   NEUROLOGY

Role of 99mTc-DPD Scintigraphy in Diagnosis and Prognosis of Hereditary Transthyretin-Related Cardiac Amyloidosis

(2011) Claudio Rapezzi et al.   JACC-Cardiovascular Imaging

Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type

(2010) Barbas Do Amaral et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Heart complications in familial transthyretin amyloidosis: impact of age and gender

(2010) Rolf Hörnsten et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers

(2010) Malin Olsson et al.   BMC Medical Genetics

Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus

(2009) Eftymioe Dardiotis et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Transthyretin asn90 variant: Amyloidogenic or non-amyloidogenic role

(2009) A. Bersano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

(2008) Urban Hellman et al.   AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis

(2008) E Ihse et al.   JOURNAL OF PATHOLOGY