Ivailo L. Tournev

1618, Bulgaria

Last Updated: 09/26/2026

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Found 91 publications

How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion.

How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion.

Journal: Frontiers in neurology

Published: May 08, 2026

Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis.

Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis.

Journal: Genes

Published: May 30, 2025

Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.

Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.

Journal: Genes

Published: May 04, 2025

Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS Cohort.

Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS Cohort.

Journal: Genes

Published: August 22, 2024

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

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.

Journal: International journal of molecular sciences

Published: July 18, 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

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

Journal: Molecular genetics and metabolism

Published: June 24, 2024

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Journal: Molecular genetics & genomic medicine

Published: December 17, 2023

Real-world effectiveness of fingolimod in patients with multiple sclerosis in Bulgaria.

Real-world effectiveness of fingolimod in patients with multiple sclerosis in Bulgaria.

Journal: Revista de neurologia

Published: November 29, 2023

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

Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.

Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.

Journal: Orphanet journal of rare diseases

Published: October 25, 2023

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Last Updated: 09/26/2026