Violeta M. Mihaylova

Luzern, LU, Switzerland

Last Updated: 09/26/2026

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Found 21 publications

A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).

A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).

Journal: Journal of clinical neuromuscular disease

Published: March 02, 2026

Novel missense variants associated with GNE myopathy.

Novel missense variants associated with GNE myopathy.

Journal: Neuromuscular disorders : NMD

Published: July 21, 2025

Nerve ultrasound in asymptomatic hereditary transthyretin amyloidosis carriers.

Nerve ultrasound in asymptomatic hereditary transthyretin amyloidosis carriers.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: May 06, 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

A Novel WARS2 Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to Trihexyphenidyl.

A Novel WARS2 Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to Trihexyphenidyl.

Journal: Journal of clinical neurology (Seoul, Korea)

Published: October 24, 2022

Management of transthyretin amyloidosis.

Management of transthyretin amyloidosis.

Journal: Swiss medical weekly

Published: October 25, 2021

Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family.

Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family.

Journal: Journal of clinical neuromuscular disease

Published: February 17, 2021

Expert recommendation from the Swiss Amyloidosis Network (SAN) for systemic AL-amyloidosis.

Expert recommendation from the Swiss Amyloidosis Network (SAN) for systemic AL-amyloidosis.

Journal: Swiss medical weekly

Published: December 05, 2020

Evoked Potentials in Patients With Wilson Disease.

Evoked Potentials in Patients With Wilson Disease.

Journal: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society

Published: November 12, 2020

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.

Journal: Neurology. Genetics

Published: February 05, 2020

Satellite cell content in Huntington's disease patients in response to endurance training.

Satellite cell content in Huntington's disease patients in response to endurance training.

Journal: Orphanet journal of rare diseases

Published: April 11, 2019

Showing 1-12 of 21

Last Updated: 09/26/2026