Magdalena Stronka-Badura

Poznan, WP, Poland

Last Updated: 09/26/2026

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Found 33 publications

Highlighting the CSF1R mutational spectrum: c.2549C>T variant in late-onset leukoencephalopathy mimicking multiple sclerosis.

Highlighting the CSF1R mutational spectrum: c.2549C>T variant in late-onset leukoencephalopathy mimicking multiple sclerosis.

Journal: Neurologia i neurochirurgia polska

Published: May 23, 2026

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

Journal: International journal of molecular sciences

Published: January 02, 2026

Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.

Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.

Journal: Journal of applied genetics

Published: February 11, 2025

Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.

Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.

Journal: Journal of applied genetics

Published: April 28, 2024

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.

Journal: Frontiers in neurology

Published: October 10, 2023

Evaluating the efficacy of a ketogenic diet in managing drug resistant paediatric DEDPC5-related epilepsy.

Evaluating the efficacy of a ketogenic diet in managing drug resistant paediatric DEDPC5-related epilepsy.

Journal: Epilepsy & behavior : E&B

Published: June 18, 2023

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.

Journal: European journal of human genetics : EJHG

Published: March 03, 2023

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report.

The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report.

Journal: Frontiers in genetics

Published: November 26, 2022

Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.

Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.

Journal: Epilepsy research

Published: November 10, 2022

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Journal: Genes

Published: November 18, 2021

Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients.

Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients.

Journal: Journal of clinical medicine

Published: November 11, 2021

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.

Journal: International journal of environmental research and public health

Published: November 02, 2021

Showing 1-12 of 33

Last Updated: 09/26/2026