A. Todorova

Biochemistry, Genetics and Molecular Biology · Life Sciences

8h-index177citations48works0.02yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(7), Muscle Physiology and Disorders(4), Autism Spectrum Disorder Research(3), Antibiotic Resistance in Bacteria(3), Mitochondrial Function and Pathology(3)

Publications48 total

237P Advancing the understanding of VAMP1-related congenital myasthenic syndrome: phenotypic insights, favorable response to 3,4-diaminopyridine, and clinical characterization of five new cases
Neuromuscular Disorders·2024
Hereditary and wild type transthyretin amyloid cardiomyopathy in Bulgaria in patients suspected for cardiac amyloidosis
Bulgarian Cardiology·2024Open Access
Role of Bacterial and Viral Infections and Co-Infections in Miscarriages
Acta Medica Bulgarica·2023· 2 citedOpen Access
<i>EPHA4</i> Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay
Balkan Journal of Medical Genetics·2023Open Access
Non-Invasive Diagnostics of Reproductive Failure with Infectious Etiology on Menstrual Tissue
Acta Medica Bulgarica·2023· 1 citedOpen Access
A Sustainability Measurement Framework of Supply Chain Information Flow: The Case of Industry 4.0 Technology Implementation
Contributions to Game Theory and Management·2023Open Access
Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the <i>NARS1</i> Gene
Acta Medica Bulgarica·2022Open Access
52P MiRNA profile associated with the invasiveness in non-functioning pituitary adenomas
Annals of Oncology·2021Open Access
Molecular-Genetic Characteristics and Genotype-Phenotype Correlations in Bulgarian Patients with Tuberous Sclerosis Complex
Acta Medica Bulgarica·2021· 1 citedOpen Access
Novel mutation in the <i>COL11A1</i> gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family
Balkan Journal of Medical Genetics·2021· 4 citedOpen Access
P-250 Significance of microsatellite instability PCR evaluation for metastatic colorectal cancer patients: Dynamic changes during disease course (preliminary results)
Annals of Oncology·2020
Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
Acta Medica Bulgarica·2020· 1 citedOpen Access
Copy number variations in critical cell-signalling genes with potential targeted therapeutic application
Annals of Oncology·2019Open Access
Targeted screening for detection of Pompe disease in patients with unclassified Limb-Girdle Muscular Dystrophy (lGMD) using Dried-Blood Spot (DBS) test: Bulgarian experience
Journal of the Neurological Sciences·2019
Hypomelanosis of Ito and De novo Interstitial 15q11.2q13.3 Triplication in Bulgarian Family
Journal of Clinical & Medical Genomics·2019Open Access
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE.
PubMed·2018· 12 cited
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes
Journal of Genetics·2018· 5 cited
Three Novel NF1 Gene Mutations in a Cohort of Bulgarian Neurofibromatoses Patients
Russian Journal of Genetics·2018· 2 cited
Sensory and instrumental texture analysis of Bulgarian commercial pates
Agricultural Science and Technology·2017· 6 citedOpen Access
Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)
Neuromuscular Disorders·2016
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Frequent Co-authors

Vanio Mitev(17), Т. Тодоров(14), Ivailo Tournev(8), Bilyana Georgieva(7), Radka Tincheva(6), Daniela Avdjieva-Tzavella(5), Ivan Litvinenko(5), Veneta Bojinova(5), Velina Guergueltcheva(5), Teodora Chamova(5), Мариана Господинова(5), Maya Koleva(4), J. Horst(4), Тодор Тодоров(4), Tanya Strateva(3), V. Ouzounova-Raykova(3), Ivan Mitov(3), Теодор Тодоров(3), Daniela Avdjieva(3), Maria Glushkova(3)