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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.
Neurogenetics|February 24, 2007
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patientsAlbena Todorova, Bilyana Georgieva, Ivailo Tournev, et al.
Human Mutation|September 15, 2006
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia ANadja Bogdanova, Arseni Markoff, Roswith Eisert, et al.
Molecular Genetics and Genomics : MGG|January 22, 2022
Diagnostic, grading and prognostic role of a restricted miRNAs signature in primary and metastatic brain tumours. Discussion on their therapeutic perspectivesEmiliya Nikolova, Christian Georgiev, Lili Laleva, et al.
Mutation Research|April 25, 2012
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesisTihomir Todorov, Albena Todorova, Cristina Motoescu, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|February 14, 2024
MiRNA Signatures Related to Invasiveness and Recurrence in Patients With Non-Functioning Pituitary Neuroendocrine TumorsEmiliya Nikolova, Anelia Nankova, Silvia Kalenderova, et al.
International Journal of Molecular Sciences|September 14, 2024
A Cautionary Tale of Hypertrophic Cardiomyopathy-From "Benign" Left Ventricular Hypertrophy to Stroke, Atrial Fibrillation, and Molecular Genetic Diagnostics: A Case Report and Review of LiteratureDolina Gencheva, Petya Angelova, Kameliya Genova, et al.
Frontiers in Psychiatry|May 8, 2026
Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case reportKaterina Gaberova, Iliyana Hristova Pacheva, Ralitsa Yordanova, et al.
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