Juan Reines-Buades - Publications

Revisiting the genetic epidemiology of ATTRv in Spain: the Balearic Islands as a high-prevalence founder focus.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: October 21, 2025

Economic and healthcare resource utilization for hereditary transthyretin amyloidosis with polyneuropathy in Spain: real-world insights from early-stage patients and mutation carriers.

Journal: Expert review of pharmacoeconomics & outcomes research

Published: July 04, 2025

Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.

Journal: Scientific reports

Published: March 17, 2025

Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.

Journal: Journal of clinical medicine

Published: October 11, 2024

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study.

Journal: Orphanet journal of rare diseases

Published: May 10, 2023

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

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: January 25, 2019

Early diagnosis in patients with transthyretin familial amyloid polyneuropathy: A comparative study.

Journal: Medicina clinica

Published: March 16, 2016

Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease.

Journal: Journal of the peripheral nervous system : JPNS

Published: January 29, 2016