Barbora Lauerova
Motol, PR, Czech Republic
Last Updated: 09/26/2026
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Found 8 publications
Genetic and Structural Variations in Czech Patients With Congenital Myopathies.
Journal: Clinical genetics
Published: April 01, 2025
Endocrinological complications of Duchenne muscular dystrophy and their subjective burden: observational study evaluating growth, puberty, and bone health.
Journal: Journal of endocrinological investigation
Published: March 09, 2025
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.
Journal: Neuromuscular disorders : NMD
Published: January 28, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
Journal: The Lancet. Neurology
Published: January 07, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Journal: Brain : a journal of neurology
Published: June 08, 2024
Serum Creatine Kinase and Transaminase Levels in Duchenne and Becker Muscular Dystrophies.
Journal: Muscle & nerve
Published: April 14, 2024
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.
Journal: European journal of medical genetics
Published: January 09, 2024
Showing 1-8 of 8
Last Updated: 09/26/2026