Researcher Profile

Ivailo Tournev

Publications

285

Citations

Co-Authors

Active Years

Publications

Open Access Journal Article Orphanet Journal of Rare Diseases Nov 10, 2023

A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Luca Gentile · Teresa Coelho · Angela Dispenzieri · Isabel Conceição +18 more

10.1186/s13023-023-02962-5 57 citations

Open Access Journal Article JACC: Heart Failure Oct 01, 2021

Angelo Giuseppe Caponetti · Claudio Rapezzi · Christian Gagliardi · Agnese Milandri +54 more

10.1016/j.jchf.2021.05.005 58 citations

Open Access Journal Article The American Journal of Human Genetics Apr 01, 2019

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Mohammad Ali Farazi Fard · Adriana P. Rebelo · Elena Buglo · Hamid Nemati +38 more

10.1016/j.ajhg.2019.03.001 53 citations

Journal Article Neurology Apr 30, 2019

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

Hanns Lochmüller · Anthony Behin · Yoseph Caraco · Heather Lau +12 more

10.1212/wnl.0000000000006932 66 citations

Open Access Journal Article The American Journal of Human Genetics Dec 01, 2003

Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35

Albena Jordanova · Florian P. Thomas · Velina Guergueltcheva · Ivailo Tournev +10 more

10.1086/379792 51 citations

Publication Timeline

2023

2021

2019

2003

Frequent Co-Authors

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Márcia Waddington-Cruz

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Violaine Planté-Bordeneuve

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