Velina Guergueltcheva

Sofia, Bulgaria

Last Updated: 09/26/2026

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Found 37 publications

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Journal: Annals of neurology

Published: August 25, 2025

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.

Journal: Genes

Published: July 30, 2024

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.

Journal: Journal of neuromuscular diseases

Published: July 12, 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 Cases.

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 Cases.

Journal: Pediatric neurology

Published: November 20, 2023

Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.

Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.

Journal: Journal of genetics

Published: February 01, 2023

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.

Journal: Nature communications

Published: December 21, 2022

MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.

MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.

Journal: Neuromuscular disorders : NMD

Published: December 29, 2020

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.

Journal: Neurology. Genetics

Published: May 24, 2020

Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.

Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.

Journal: Nature communications

Published: February 26, 2019

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Journal: Neuromuscular disorders : NMD

Published: February 03, 2018

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Journal: Journal of neuromuscular diseases

Published: November 11, 2017

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

Journal: PloS one

Published: March 02, 2017

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Last Updated: 09/26/2026