Alena Musilova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 14 publications

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Journal: Neurogenetics
Published: March 16, 2026

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

Journal: Human genomics
Published: December 19, 2025

Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.

Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.

Journal: Frontiers in medicine
Published: September 12, 2025

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.

Journal: Neurology. Genetics
Published: December 06, 2024

Genetic testing in children enrolled in epilepsy surgery program. A real-life study.

Genetic testing in children enrolled in epilepsy surgery program. A real-life study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: April 19, 2023

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 15, 2022

COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.

COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.

Journal: Epilepsia open
Published: October 06, 2022

Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.

Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.

Journal: Neurology. Genetics
Published: June 14, 2022

DUX4r, ZNF384r and PAX5-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch.

DUX4r, ZNF384r and PAX5-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch.

Journal: Haematologica
Published: February 18, 2020

Genomic landscape of pediatric B-other acute lymphoblastic leukemia in a consecutive European cohort.

Genomic landscape of pediatric B-other acute lymphoblastic leukemia in a consecutive European cohort.

Journal: Haematologica
Published: August 21, 2018

ERG deletions in childhood acute lymphoblastic leukemia with DUX4 rearrangements are mostly polyclonal, prognostically relevant and their detection rate strongly depends on screening method sensitivity.

ERG deletions in childhood acute lymphoblastic leukemia with DUX4 rearrangements are mostly polyclonal, prognostically relevant and their detection rate strongly depends on screening method sensitivity.

Journal: Haematologica
Published: August 13, 2018

Low HOX gene expression in PML-RARα-positive leukemia results from suppressed histone demethylation.

Low HOX gene expression in PML-RARα-positive leukemia results from suppressed histone demethylation.

Journal: Epigenetics
Published: December 12, 2017
Showing 1-12 of 14

Last Updated: 09/26/2026