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Barbara Steinborn

Explore the profile of Barbara Steinborn including associated specialties, affiliations and a list of published articles. Areas
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Articles 55
Citations 260
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Recent Articles
1.
Mar S, Valeriani M, Steinborn B, Schreiner T, Waubant E, Filippi M, et al.
J Neurol . 2025 Jan; 272(2):137. PMID: 39812825
Background: The presented study identified the appropriate ocrelizumab dosing regimen for patients with pediatric-onset multiple sclerosis (POMS). Methods: Patients with POMS aged 10-17 years were enrolled into cohort 1 (body...
2.
Gajewska E, Flicinski J, Sobieska M, Michalska J, Zarowski M, Steinborn B
Front Genet . 2024 Dec; 15:1483903. PMID: 39649095
A boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development. The boy from the first...
3.
Paprocka J, Steinborn B, Krygier M, Winczewska-Wiktor A, Przyslo L, Hutny M, et al.
Seizure . 2024 Jul; 120:201-209. PMID: 39047613
Background: Voltage-gated sodium channels are involved in the initial depolarisation of neurones. As such, they play important roles in neurotransmission. Variants in the genes encoding these channels may lead to...
4.
Badura-Stronka M, Wolynska K, Winczewska-Wiktor A, Marcinkowska J, Karolewska D, Tomkowiak-Kedzia D, et al.
Front Neurol . 2024 Feb; 14:1316933. PMID: 38328757
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...
5.
Winczewska-Wiktor A, Braszka M, Harada-Laszlo M, Badura-Stronka M, Kaczmarek I, Starczewska M, et al.
Epilepsy Behav . 2023 Dec; 150:109535. PMID: 38118233
Aim: To evaluate the effectiveness of the ketogenic diet treatment in a cohort of patients with drug-resistant epilepsy with a mutation in the DEPDC5 gene. Materials And Methods: We followed...
6.
Starczewska M, Kaczmarek I, Winczewska-Wiktor A, Zarowski M, Steinborn B
Epilepsy Behav . 2023 Jun; 145:109277. PMID: 37331208
The use of a suggestive seizure induction procedure (SSI) in medicine, particularly in the differential diagnosis of psychogenic nonepileptic epileptic seizures (PNES), is well documented. However, there is no description...
7.
Paprocka J, Jezela-Stanek A, Smigiel R, Walczak A, Mierzewska H, Kutkowska-Kazmierczak A, et al.
Genes (Basel) . 2023 May; 14(5). PMID: 37239332
Background: (kinesin family member 1A)-related disorders encompass a variety of diseases. variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic...
8.
Bieniaszewska A, Sobieska M, Steinborn B, Gajewska E
Biomedicines . 2023 May; 11(4). PMID: 37189623
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by the deletion or/and mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5. Until now, only a...
9.
Badura-Stronka M, Kuszel L, Wencel-Warot A, Cudnoch K, Wolynska K, Rutkowska K, et al.
Epilepsy Res . 2023 Feb; 190:107101. PMID: 36758444
Missense variants in the synaptic vesicle glycoprotein SV2A gene have been previously found in a few individuals with epilepsy. Adverse reaction to levetiracetam in individuals with various variants of this...
10.
Brola W, Steinborn B, Zak M, Mazurkiewicz-Beldzinska M, Jozwiak S, Sobolewski P, et al.
J Clin Med . 2022 Dec; 11(24). PMID: 36556109
Background. Paediatric-onset MS (POMS) has a unique clinical profile compared to the more prevalent adult-onset MS. For this study, we aimed to determine the demographic and clinical characteristics of POMS...