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Page 1
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
Mihaylova V, Hantke J, Sinigerska I, Cherninkova S, Raicheva M, Bouwer S, Tincheva R, Khuyomdziev D, Bertranpetit J, Chandler D, Angelicheva D, Kremensky I, Seeman P, Tournev I, Kalaydjieva L. Mihaylova V, et al. Among authors: cherninkova s. Brain. 2007 Apr;130(Pt 4):1050-61. doi: 10.1093/brain/awm026. Epub 2007 Mar 14. Brain. 2007. PMID: 17360762
Wilson's disease in two consecutive generations in a Bulgarian Roma family.
Mihaylova V, Todorov T, Jelev H, Cherninkova S, Raycheva M, Savov A, Kremensky I, Tournev I. Mihaylova V, et al. Among authors: cherninkova s. J Neurol. 2007 Oct;254(10):1462-3. doi: 10.1007/s00415-007-0564-1. Epub 2007 Aug 14. J Neurol. 2007. PMID: 17694349 No abstract available.
Unique PABPN1 gene mutation in a large Bulgarian family with OPMD.
Mihaylova V, Müller T, Petrova I, Tournev I, Cherninkova S, Walter MC, Deschauer M. Mihaylova V, et al. Among authors: cherninkova s. J Neurol. 2008 Apr;255(4):609-11. doi: 10.1007/s00415-008-0769-y. Epub 2008 Feb 19. J Neurol. 2008. PMID: 18274805 No abstract available.
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: cherninkova s. 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: cherninkova s. J Neuromuscul Dis. 2024;11(5):1011-1020. doi: 10.3233/JND-230235. J Neuromuscul Dis. 2024. PMID: 38995797 Free PMC article.
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group. Yu-Wai-Man P, et al. Among authors: cherninkova s. Cell Rep Med. 2024 Mar 19;5(3):101437. doi: 10.1016/j.xcrm.2024.101437. Epub 2024 Feb 29. Cell Rep Med. 2024. PMID: 38428428 Free PMC article. Clinical Trial.
29 results