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Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.
Núñez-Carpintero I, Rigau M, Bosio M, O'Connor E, Spendiff S, Azuma Y, Topf A, Thompson R, 't Hoen PAC, Chamova T, Tournev I, Guergueltcheva V, Laurie S, Beltran S, Capella-Gutiérrez S, Cirillo D, Lochmüller H, Valencia A. Núñez-Carpintero I, et al. Among authors: tournev i. Nat Commun. 2024 Feb 28;15(1):1227. doi: 10.1038/s41467-024-45099-0. Nat Commun. 2024. PMID: 38418480 Free PMC article.
Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.
González-Moreno J, Dispenzieri A, Grogan M, Coelho T, Tournev I, Waddington-Cruz M, Wixner J, Diemberger I, Garcia-Pavia P, Chapman D, Gupta P, Glass O, Amass L; THAOS investigators. González-Moreno J, et al. Among authors: tournev i. Cardiol Ther. 2024 Mar;13(1):117-135. doi: 10.1007/s40119-023-00344-3. Epub 2023 Dec 20. Cardiol Ther. 2024. PMID: 38117424 Free PMC article.
Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotype.
Gospodinova M, Zhelyazkova S, Chamova T, Asenov O, Pavlova Z, Todorov T, Mikova D, Palashev Y, Gruev I, Kundurdjiev A, Todorova A, Tournev I. Gospodinova M, et al. Among authors: tournev i. Front Cardiovasc Med. 2023 Oct 31;10:1228410. doi: 10.3389/fcvm.2023.1228410. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 38028480 Free PMC article.
Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes.
Tourtourikov I, Dabchev K, Todorov T, Angelov T, Chamova T, Tournev I, Kadiyska T, Mitev V, Todorova A. Tourtourikov I, et al. Among authors: tournev i. Genes (Basel). 2023 Oct 30;14(11):2023. doi: 10.3390/genes14112023. Genes (Basel). 2023. PMID: 38002967 Free PMC article.
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Gentile L, Coelho T, Dispenzieri A, Conceição I, Waddington-Cruz M, Kristen A, Wixner J, Diemberger I, Gonzalez-Moreno J, Cariou E, Maurer MS, Planté-Bordeneuve V, Garcia-Pavia P, Tournev I, Gonzalez-Costello J, Duarte AG, Grogan M, Mazzeo A, Chapman D, Gupta P, Glass O, Amass L; THAOS investigators. Gentile L, et al. Among authors: tournev i. Orphanet J Rare Dis. 2023 Nov 10;18(1):350. doi: 10.1186/s13023-023-02962-5. Orphanet J Rare Dis. 2023. PMID: 37946256 Free PMC article.
Patients with transthyretin amyloidosis enrolled in THAOS between 2018 and 2021 continue to experience substantial diagnostic delay.
Coelho T, Dispenzieri A, Grogan M, Conceição I, Waddington-Cruz M, Kristen AV, Wixner J, Diemberger I, Gonzalez-Moreno J, Maurer MS, Planté-Bordeneuve V, Garcia-Pavia P, Tournev I, Gonzalez-Costello J, Cariou E, González-Duarte A, Glass O, Chapman D, Amass L; THAOS investigators. Coelho T, et al. Among authors: tournev i. Amyloid. 2023 Dec;30(4):445-448. doi: 10.1080/13506129.2023.2229484. Epub 2023 Jul 17. Amyloid. 2023. PMID: 37459334 No abstract available.
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
Ermanoska B, Asselbergh B, Morant L, Petrovic-Erfurth ML, Hosseinibarkooie S, Leitão-Gonçalves R, Almeida-Souza L, Bervoets S, Sun L, Lee L, Atkinson D, Khanghahi A, Tournev I, Callaerts P, Verstreken P, Yang XL, Wirth B, Rodal AA, Timmerman V, Goode BL, Godenschwege TA, Jordanova A. Ermanoska B, et al. Among authors: tournev i. Nat Commun. 2023 Mar 8;14(1):999. doi: 10.1038/s41467-023-35908-3. Nat Commun. 2023. PMID: 36890170 Free PMC article.
152 results