Publications by authors named "Anna Sulek"

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CANVAS as example of genetic and clinical complexity of RFC1-related disorders.
Filip Tomczuk, Anna Sulek, Piotr Janik

Neurol Neurochir Pol· August 2025

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Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.
Tomczuk Filip, Ziora-Jakutowicz Karolina, Dominik Natalia, Houlden Henry, Cortese Andrea, Sulek Anna

J Appl Genet· August 2025

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Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegias.
Iwona Stępniak, Maria Rakowicz, Wanda Lipczyńska-Łojkowska, Anna Sobańska, Ewelina Elert-Dobkowska

Neurol Neurochir Pol· July 2025

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Reply to the Letter to the Editor on "The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion" [].
Wiktoria Radziwonik-Frączyk, Anna Sułek, Ewelina Elert-Dobkowska

Postep Psychiatr Neurol· March 2025

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Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers.
Anna Sobanska, Leszek Czerwosz, Anna Sulek, Rafal Rola, Iwona Stepniak

Cerebellum· October 2024

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Secretome - the role of extracellular vesicles in the pathogenesis and therapy of neurodegenerative diseases.
Anna Sulek

Postep Psychiatr Neurol· September 2024

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Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Wiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, Jacek Pilch, Karolina Ziora-Jakutowicz, Anna Sulek

Neurogenetics· July 2024

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The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the Gene Causative for Spino-Cerebellar Ataxia Type 17.
Dorota Hoffman-Zacharska, Anna Sulek

Int J Mol Sci· July 2024

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Co-occurrence of homozygous mutation and CCTG expansion in the gene in a patient with muscular dystrophy.
Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska

Postep Psychiatr Neurol· June 2024

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Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sulek

Int J Mol Sci· May 2024

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First families with spinocerebellar ataxia type 7 in Poland.
Jarosław Dulski, Rana Hanna Al-Shaikh, Mercedes Prudencio, Leonard Petrucelli, Anna Sulek

Neurol Neurochir Pol· July 2023

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The effects of the recurrent social isolation stress on fear extinction and dopamine D receptors in the amygdala and the hippocampus.
Aleksandra Wisłowska-Stanek, Małgorzata Lehner, Filip Tomczuk, Aleksandra Gawryluk, Karolina Kołosowska

Pharmacol Rep· February 2023

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First report on spinocerebellar ataxia type 3 (Machado-Joseph disease) in Poland.
Jarosław Dulski, Rana Hanna Al-Shaikh, Anna Sulek, Jakub Kasprzak, Jarosław Sławek

Parkinsonism Relat Disord· December 2022

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Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) - are sex differences important?
Monika Nojszewska, Anna Lusakowska, Malgorzata Gawel, Janusz Sierdzinski, Anna Sulek

Neurol Neurochir Pol· November 2022

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Spinocerebellar ataxia type 3 (Machado-Joseph disease).
Jarosław Dulski, Rana H Al-Shaikh, Anna Sulek, Jakub Kasprzak, Jarosław Sławek

Pol Arch Intern Med· October 2022

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Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
Wiktoria Radziwonik, Ewelina Elert-Dobkowska, Aleksandra Klimkowicz-Mrowiec, Karolina Ziora-Jakutowicz, Iwona Stepniak, Anna Sulek

J Appl Genet· September 2022

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High-intensity interval training modulates inflammatory response in Parkinson's disease.
Paulina Malczynska-Sims, Małgorzata Chalimoniuk, Zbigniew Wronski, Jaroslaw Marusiak, Anna Sulek

Aging Clin Exp Res· September 2022

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Correction: High-intensity interval training modulates inflammatory response in Parkinson's disease.
Paulina Malczynska-Sims, Małgorzata Chalimoniuk, Zbigniew Wronski, Jaroslaw Marusiak, Anna Sulek

Aging Clin Exp Res· September 2022

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C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA).
Wiktoria Radziwonik, Ewelina Elert-Dobkowska, Filip Tomczuk, Aleksandra Wozniak, Anna Sobanska

Neurol Neurochir Pol· July 2022

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False-negative tests in Huntington's disease: A new variant within primer hybridization site.
Jaroslaw Dulski, Anna Sulek, Magdalena Krygier, Wiktoria Radziwonik, Jaroslaw Slawek

Eur J Neurol· June 2021

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Spinal muscular atrophy with an overlapping syndrome - "double trouble" or a potentially better outcome?
Anna Frączek, Anna Potulska-Chromik, Małgorzata Bednarska-Makaruk, Anna Sułek, Ewa Obersztyn

Neurol Neurochir Pol· November 2020

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Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.
Magdalena Bosak, Anna Sułek, Maria Łukasik, Amadeusz Żak, Agnieszka Słowik

Epilepsy Behav· November 2020

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The Effect of Endurance Training on Brain-Derived Neurotrophic Factor and Inflammatory Markers in Healthy People and Parkinson's Disease. A Narrative Review.
Paulina Małczyńska-Sims, Małgorzata Chalimoniuk, Anna Sułek

Front Physiol· November 2020

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The needle EMG findings in myotonia congenita.
Monika Nojszewska, Anna Lusakowska, Malgorzata Gawel, Janusz Sierdzinski, Anna Sulek

J Electromyogr Kinesiol· December 2019

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Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
Alhassane Diallo, Heike Jacobi, Arron Cook, Paola Giunti, Michael H Parkinson, Anna Sulek

Mov Disord· August 2019

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