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Genes|June 26, 2025
Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious MinorityTeodora Chamova, Tihomir Todorov, Paulius Palaima, 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.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.Neuromuscular Disorders : NMD|May 31, 2021
MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetranceSlavena Atemin, Tihomir Todorov, Ales Maver, et al.Genes|September 28, 2024
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim RomaAni Taneva, David Gresham, Velina Guergueltcheva, et al.Neuromuscular Disorders : NMD|June 25, 2018
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutationTeodora Chamova, Stoyan Bichev, Tihomir Todorov, et al.Pediatric Neurology|June 4, 2024
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 CasesDaniel Natera-de Benito, Alessia Pugliese, Kiran Polavarapu, et al.European Journal of Human Genetics : EJHG|May 22, 2024
Comparison of the ABC and ACMG systems for variant classificationGunnar Houge, Eirik Bratland, Ingvild Aukrust, et al.Brain : a Journal of Neurology|June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.Pageof 7