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Journal of Gastrointestinal and Liver Diseases : JGLD|December 12, 2019
Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln MutationRadislav Nakov, Stayko Sarafov, Ventsislav Nakov, et al.American Journal of Medical Genetics. Part A|March 15, 2019
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 geneIliyana Pacheva, Tihomir Todorov, Zeyra Halil, et al.American Journal of Medical Genetics. Part A|April 8, 2023
Novel insights on GTPBP3-associated hypertrophic cardiomyopathyPetya Angelova, Vasil Velchev, Nikolay Stoyanov, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|June 23, 2020
Transthyretin amyloidosis: Testing strategies and model for center of excellence supportRadislav Nakov, Stayko Sarafov, Mariana Gospodinova, et al.Journal of Cardiovascular Medicine (Hagerstown, Md.)|August 3, 2020
Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutationMariana Gospodinova, Stayko Sarafov, Teodora Chamova, et al.Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|July 30, 2019
Founder effect of the Glu89Gln TTR mutation in the Bulgarian populationAndrey Kirov, Stayko Sarafov, Zornitza Pavlova, et al.BMJ Case Reports|June 21, 2011
Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPATihomir Todorov, Albena Todorova, Andrey Kirov, et al.Genes|November 25, 2023
Navigating the ALS Genetic Labyrinth: The Role of MAPT HaplotypesIvan Tourtourikov, Kristiyan Dabchev, Tihomir Todorov, et al.Neuroscience Letters|March 15, 2011
One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A geneIglika Yordanova, Tihomir Todorov, Petia Dimova, et al.Frontiers in Neurology|February 27, 2023
Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigreeTeodor Angelov, Teodora Chamova, Slavena Atemin, et al.Pageof 6