Magdalena Badura‐Stronka

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

Valeria Babak-Jeziorska, Magdalena Badura‐Stronka, Joanna Pawlak, Karolina Kania et autres

INTRODUCTION: Late-onset CSF1R-related disorder is an ultra-rare neurogenetic disorder caused by pathogenic variants in the colony-stimulating factor 1 receptor (CSF1R) gene. Due to the rapid disease progression and rapid deterioration of neuropsychological status of affected individuals, prompt and accurate diagnosis is essential. …

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

Anna Szoszkiewicz, Anna Sowińska-Seidler, Aleksandra Wnuk-Kłosińska, Ewelina Bukowska‐Olech et autres

Congenital vertebral malformations (CVMs), affecting approximately 0.5–1 per 1000 live births, occur either in an isolated form or as part of syndromic disorders. Despite the identification of numerous causative genes for CVMs, the molecular etiology of most cases remains unknown. In this …

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

Adam Sebastian Hirschfeld, Julia Oliwia Misiorek, Magdalena Dabrowska, Brandon J. Gerhart et autres

Dominantly inherited GAA repeat expansions in the FGF14 gene have recently been identified as the cause of spinocerebellar ataxia 27B (SCA27B). Our study focused on a Polish patient case along with asymptomatic family members. Moreover, we systematically reviewed available case reports to …

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

Magdalena Badura‐Stronka, Adam Sebastian Hirschfeld, Evgenia Globa, Anna Winczewska‐Wiktor et autres

We report three patients with the novel variant c.100 + 1G > A of the TBCE gene and describe the presented clinical phenotype in detail. We also systematically reviewed the literature for clinical similarities and dissimilarities among all known patients with pathogenic …

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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

Magdalena Badura‐Stronka, Anna Winczewska‐Wiktor, Justyna Marcinkowska, Dagmara Karolewska et autres

Introduction Targeted Next-Generation Sequencing Panels (TNGSP) have become a standard in global clinical practice. Instead of questioning the necessity of next-generation sequencing in epilepsy patients, contemporary large-scale research focuses on factors such as the size of TNGSP, the comparative advantages of exome …

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Neurologia. Podręcznik dla studentów medycyny

Wojciech P. Kozubski, Magdalena Badura‐Stronka, Monika Białecka, Robert Bonek et autres

Neurologia. Kompendium

Wojciech P. Kozubski, Magdalena Badura‐Stronka, Robert Bonek, Joanna Ciegielska et autres

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

Anna Winczewska‐Wiktor, Małgorzata Braszka, Mia Harada‐Laszlo, Magdalena Badura‐Stronka et autres

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

Sunwoo Liv Lee, Eguzkine Ochoa, Magdalena Badura‐Stronka, Deirdre Donnelly et autres

HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and dysregulation of HNRNPU have been implicated in various human diseases, including cancers and neurological disorders. We applied a next generation sequencing …

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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

Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura‐Stronka, Jerome Juengling et autres

The CDC42 (cell division cycle homolog 42) gene product, Cdc42 belongs to the Rho GTPase family which plays a pivotal role in the regulation of multiple cellular functions, including cell cycle progression, motility, migration, proliferation, transcription activation, and reactive oxygen species production. …

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

Meena Balasubramanian, Sunwoo Liv Lee, Eguzkine Ochoa, Magdalena Badura‐Stronka et autres

Abstract HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and dysregulation of HNRNPU have been implicated in various human diseases, including cancers and neurological disorders. We applied a next generation …

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

Magdalena Badura‐Stronka, Łukasz Kuszel, Agnieszka Wencel-Warot, Kamila Cudnoch et autres

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