Biruta Kierdaszuk

Warsaw, MZ 02097, Poland

Last Updated: 09/26/2026

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Found 35 publications

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Journal: Journal of applied genetics

Published: May 21, 2025

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.

Journal: Neurology. Genetics

Published: November 26, 2024

Echocardiographic evaluation of cardiac function in patients with myotonic dystrophy - is the right ventricular dysfunction observed? One academic center experience.

Echocardiographic evaluation of cardiac function in patients with myotonic dystrophy - is the right ventricular dysfunction observed? One academic center experience.

Journal: Neurologia i neurochirurgia polska

Published: November 08, 2024

Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.

Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.

Journal: Brain : a journal of neurology

Published: February 27, 2024

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Journal: Journal of neurology

Published: February 13, 2024

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Journal: Journal of neurology

Published: May 06, 2023

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.

Journal: Orphanet journal of rare diseases

Published: March 22, 2023

Technical aspects and current clinical applications of the skin and skeletal muscle biopsy in neurological diagnostics: an overview.

Technical aspects and current clinical applications of the skin and skeletal muscle biopsy in neurological diagnostics: an overview.

Journal: Folia neuropathologica

Published: November 16, 2022

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Journal: Journal of clinical medicine

Published: January 22, 2021

Comprehensive non-invasive assessment of electrocardiographic abnormalities and cardiac arrhythmias in patients with genetically confirmed mitochondrial diseases.

Comprehensive non-invasive assessment of electrocardiographic abnormalities and cardiac arrhythmias in patients with genetically confirmed mitochondrial diseases.

Journal: Journal of electrocardiology

Published: December 17, 2020

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.

Journal: Genes

Published: December 11, 2020

Facial onset sensory and motor neuronopathy syndrome - a rare variant of motor neurone disease.

Facial onset sensory and motor neuronopathy syndrome - a rare variant of motor neurone disease.

Journal: Neurologia i neurochirurgia polska

Published: September 25, 2020

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Last Updated: 09/26/2026