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161 results

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Page 1
Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy: A Randomized Clinical Trial With Open-Label Extension.
Adams D, Wixner J, Polydefkis M, Berk JL, Conceição IM, Dispenzieri A, Peltier A, Ueda M, Bender S, Capocelli K, Jay PY, Yureneva E, Obici L; patisiran Global OLE study group. Adams D, et al. JAMA Neurol. 2025 Jan 13. doi: 10.1001/jamaneurol.2024.4631. Online ahead of print. JAMA Neurol. 2025. PMID: 39804640
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.
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Chamova T, Ivanova N, Cherninkova S, Koleva M, Zlatareva D, Bojinova V, Mihova K, Georgiev M, Ferdinandov D, Bichev S, Kaneva R, Mitev V, Jordanova A, Tournev I. Chamova T, et al. Among authors: tournev i. Mol Genet Genomic Med. 2024 Jul;12(7):e2483. doi: 10.1002/mgg3.2483. Mol Genet Genomic Med. 2024. PMID: 39044368 Free PMC article.
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
Kastreva K, Chamova T, Blagoeva S, Bichev S, Mihaylova V, Meyer S, Thompson R, Cherninkova S, Guergueltcheva V, Lochmuller H, Tournev I. Kastreva K, et al. Among authors: tournev i. J Neuromuscul Dis. 2024;11(5):1011-1020. doi: 10.3233/JND-230235. J Neuromuscul Dis. 2024. PMID: 38995797 Free PMC article.
Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.
Molnar MJ, Szabó L, Vladacenco OA, Cobzaru AM, Dor T, Dori A, Papadimas G, Juříková L, Litvinenko I, Tournev I, Dixon C. Molnar MJ, et al. Among authors: tournev i. Orphanet J Rare Dis. 2024 Jul 9;19(1):260. doi: 10.1186/s13023-024-03270-2. Orphanet J Rare Dis. 2024. PMID: 38982500 Free PMC article.
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez C, Martorell L, Estévez-Arias B, Matalonga L, Laurie S, Jou C, Lau J, Thompson R, Shen X, Engel AG, Nascimento A, Lochmüller H, Selcen D. Natera-de Benito D, et al. Among authors: tournev i. Pediatr Neurol. 2024 Aug;157:5-13. doi: 10.1016/j.pediatrneurol.2024.04.027. Epub 2024 May 9. Pediatr Neurol. 2024. PMID: 38833907
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.
161 results