Familial Amyloid Neuropathies

Familial Amyloid Neuropathies (FAP) are a rare group of autosomal dominant diseases in which nerves are compromised due to protein aggregation or fibril formation of transthyretin, apolipoprotein A1, or gelsolin proteins, resulting in nervous system dysfunction. Here is the latest research.

July 14, 2020
Open Access

Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis

Frontiers in Molecular Neuroscience
Gian Luca VitaAnna Mazzeo
August 3, 2020

Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutation

Journal of Cardiovascular Medicine
Mariana GospodinovaIvailo Tournev
July 8, 2020

Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review

JAMA : the Journal of the American Medical Association
Morie A Gertz, Angela Dispenzieri
June 27, 2020
Open Access

Gateway and journey of patients with cardiac amyloidosis

ESC Heart Failure
Daniel DangOlivier Lairez
July 4, 2020
Case Report
Open Access

Deleterious effect of right ventricular pacing in patients with cardiac transthyretin amyloidosis: potential clinical benefit of cardiac resynchronization therapy

European Heart Journal. Case Reports
David AouateSylvestre Maréchaux
July 2, 2020
Open Access

Wild-type transthyretin cardiac amyloidosis diagnosed in a patient in his 50s

BMJ Case Reports
Junya TanabeKazuaki Tanabe
August 11, 2020

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'

Journal of Neuromuscular Diseases
Matthew J JenningsRita Horvath
June 27, 2020
Review

Overview of treatments used in transthyretin-related hereditary amyloidosis: a systematic review

European Journal of Hospital Pharmacy. Science and Practice
Héctor Cristóbal GutiérrezMarta Valero Domínguez
August 10, 2020

SERPINA1 modulates expression of amyloidogenic transthyretin

Experimental Cell Research
Christoph NiemietzAndree Zibert
June 26, 2020
Open Access

Prevalence of RFC1 -mediated spinocerebellar ataxia in a North American ataxia cohort

Neurology. Genetics
Dona Aboud SyrianiBrent L Fogel
July 27, 2020

Transthyretin Amyloidosis with Cardiomyopathy after Domino Liver Transplantation: results of a cross-sectional study

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons
Antonio Grande-TrilloJosé González-Costello
June 28, 2020

Light chain and transthyretin cardiac amyloidosis: Clinical characteristics, natural history and prognostic factors

Medicina clínica
Gonzalo Barge-CaballeroMaría G Crespo-Leiro
July 13, 2020
Open Access

Mnis+7 And Lower Limb Function In Inotersen Treatment Of Hattr

Muscle & Nerve
P James B DyckPeter J Dyck
June 25, 2020

TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
Orly Moshe-LilieChafic Karam

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