Teodora Chamova

Alexandrovska Hospital — BG

Biochemistry, Genetics and Molecular Biology · Life Sciences

23h-index2.8kcitations92works3.22yr avg
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Research Topics

Muscle Physiology and Disorders(19), Neurological diseases and metabolism(17), Amyloidosis: Diagnosis, Treatment, Outcomes(15), Hereditary Neurological Disorders(14), Neurogenetic and Muscular Disorders Research(14)

Publications89 total

Nerve ultrasound in asymptomatic hereditary transthyretin amyloidosis carriers
Clinical Neurophysiology·2025
Incorporating cost considerations into shared decision-making: lessons from Bulgaria
Pharmacia·2025· 1 citedOpen Access
Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis
Genes·2025Open Access
Variant Ataxia–Telangiectasia Presenting as Tremor–Dystonia Syndrome in a Bulgarian Religious Minority
Genes·2025Open Access
Access to medicines, care, and services for multiple sclerosis patients in Central and Eastern European countries: a comparative analysis
Expert Review of Pharmacoeconomics & Outcomes Research·2025Open Access
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Molecular Genetics and Metabolism·2025· 7 citedOpen Access
Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS Cohort
Genes·2024Open Access
Rare case of mitochondrial cardiomyopathy in adolescent girl
Bulgarian Cardiology·2024Open Access
Hereditary and wild type transthyretin amyloid cardiomyopathy in Bulgaria in patients suspected for cardiac amyloidosis
Bulgarian Cardiology·2024Open Access
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma
Genes·2024· 1 citedOpen Access
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria
International Journal of Molecular Sciences·2024· 2 citedOpen Access
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma
Preprints.org·2024· 2 citedOpen Access
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit
Journal of Neuromuscular Diseases·2024· 5 citedOpen Access
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay
Molecular Genetics & Genomic Medicine·2024· 1 citedOpen Access
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
Nature Communications·2024· 15 citedOpen Access
Adherence to disease-modifying therapies among patients with multiple sclerosis in Bulgaria – A real world study
Pharmacia·2024Open Access
HSD113 Access to Medicines, Care, and Services for Multiple Sclerosis Patients in Central and Eastern European Countries: A Comparative Analysis
Value in Health·2023Open Access
Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype
Frontiers in Cardiovascular Medicine·2023Open Access
Navigating the ALS Genetic Labyrinth: The Role of MAPT Haplotypes
Genes·2023· 2 citedOpen Access
Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree
Frontiers in Neurology·2023· 1 citedOpen Access
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Frequent Co-authors

Ivailo Tournev(36), Velina Guergueltcheva(22), Albena Jordanova(16), Мариана Господинова(14), Tihomir Todorov(13), Албена Тодорова(13), Hanns Lochmüller(11), Vanio Mitev(11), Luba Kalaydjieva(10), Andrey Kirov(8), Stayko Sarafov(8), Veronika Karcagi(6), Anna Łusakowska(6), Janbernd Kirschner(6), Volker Straub(6), Koen Peeters(6), Stoyan Bichev(6), Jaana Lähdetie(5), Anna Kostera‐Pruszczyk(5), Haluk Topaloğlu(5)