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Epileptic Disorders : International Epilepsy Journal with Videotape|July 2, 2024
Clinical characteristics and multimodal imaging can help diagnosing and treating mild malformation of cortical development with oligodendroglial hyperplasia and epilepsyPetia S Dimova, Dimitar Metodiev, Tihomir Todorov, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 2, 2015
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 geneSavina Tincheva, Tihomir Todorov, Albena Todorova, et al.Frontiers in Cardiovascular Medicine|November 29, 2023
Case Report: Transthyretin Glu54Leu-a rare mutation with predominant cardiac phenotypeMariana Gospodinova, Sashka Zhelyazkova, Teodora Chamova, et al.Genes|July 29, 2025
Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin AmyloidosisZornitsa Pavlova, Sashka Zhelyazkova, Mariana Gospodinova, et al.Gene|April 15, 2019
Monoallelic expression of the TTR gene as a contributor to the age at onset and penetrance of TTR-related amyloidosisIglika Yordanova, Zornitza Pavlova, Andrey Kirov, et al.European Neurology|February 25, 2016
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type CTeodora Chamova, Andrey Kirov, Velina Guergueltcheva, et al.Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|January 23, 2017
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in BulgariaSilvia Andonova, Ralitsa Robeva, Radoslava Vazharova, et al.Genes|June 26, 2025
Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious MinorityTeodora Chamova, Tihomir Todorov, Paulius Palaima, et al.Frontiers in Neurology|April 25, 2022
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in BulgariaTeodora Chamova, Mariana Gospodinova, Ognian Asenov, et al.Journal of Genetics|February 1, 2023
Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorderSlavena Atemin, Tihomir Todorov, Ivan Tourtourikov, et al.Pageof 6