Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

160 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial.
Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, González-Duarte A, Gillmore JD, Low SC, Sekijima Y, Obici L, Chen C, Badri P, Arum SM, Vest J, Polydefkis M; HELIOS-A Collaborators. Adams D, et al. Amyloid. 2023 Mar;30(1):1-9. doi: 10.1080/13506129.2022.2091985. Epub 2022 Jul 23. Amyloid. 2023. PMID: 35875890 Clinical Trial.
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.
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.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
Taneva A, Gresham D, Guergueltcheva V, Chamova T, Bojinova V, Gospodinova M, Katzarova M, Petkov R, Voit T, Aneva L, Asenov O, Georgieva B, Mihaylova V, Bichev S, Todorov T, Todorova A, Kalaydjieva L, Tournev I. Taneva A, et al. Among authors: tournev i. Genes (Basel). 2024 Aug 30;15(9):1144. doi: 10.3390/genes15091144. Genes (Basel). 2024. PMID: 39336735 Free PMC article.
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.
Atkinson D, Chamova T, Candayan A, Kastreva K, Asenov O, Litvinenko I, Estrada-Cuzcano A, De Vriendt E, Kukushev G, Tournev I, Jordanova A. Atkinson D, et al. Among authors: tournev i. Int J Mol Sci. 2024 Aug 21;25(16):9047. doi: 10.3390/ijms25169047. Int J Mol Sci. 2024. PMID: 39201732 Free PMC article.
160 results