Journals publications included in the Master Journal List (from last three years):

1. A case report of a de novo TAOK1 variant associated with childhood-onset action tremor - KRYGIER MAGDALENA, PIETRUSZKA MARTA, Limanówka M., Rumiński P., DZWILEWSKI KAMIL, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, CHYLIŃSKA MAGDALENA, Zech M. - Eur. J. Neurol. - 2025 : vol. 32, suppl. 1, s. 282, abs. EPO-498
2. Response to: DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome - CHOJNOWSKI KAROL, DZWILEWSKI KAMIL, KRYGIER MAGDALENA, ZAWADZKA MARTA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Neurol. Neurochir. Pol. - 2025 : vol. 59, nr 1, s. 90-91, bibliogr. 4 poz.
3. Untargeted metabolomics reveals key metabolic alterations in pediatric epilepsy with insights into Tryptophan metabolism and the gut-brain axis - CHOJNOWSKI KAROL, OPIEŁKA MIKOŁAJ, URBANOWICZ KRZYSZTOF, ZAWADZKA MARTA, Wangin Karolina, SMOLEŃSKI RYSZARD TOMASZ, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Sci. Rep. - 2025 : vol. 15, nr 1, art. ID 15262, s. 1-12, bibliogr. 80 poz., streszcz. ang.
4. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia - Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F., Janzarik Wibke G., Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, KRYGIER MAGDALENA, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M., Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P., Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane - Brain - 2025 : vol. 148, nr 8, s. 2827-2846, bibliogr. 105 poz., streszcz. ang.
5. Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: a retrospective cohort study - De Wachter Matthias, Millevert Charissa, Nicolai Joost, Cats Elisabeth, Kluger Gerhard, Milh Mathieu, Cloarec Robin, Syrbe Steffen, Arts Katrijn, Jansen Katrien, KRYGIER MAGDALENA, Smigiel Robert, Auvin Stephane, Olofson Kern, Gjerulfsen Cathrine Elisabeth, Ceulemans Berten, Møller Rikke S., Bayat Allan, Weckhuysen Sarah - Epilepsia - 2025 : vol. 66, nr 5, s. 1628-1640, bibliogr. 31 poz., streszcz. ang.
6. Quality assessment of online information on the use of the ketogenic diet in epilepsy: a comparative analysis of English and Polish sources - Zakrzewski Dawid, Woźniak Jan S., Orłowska Justyna, Łukasiński Kacper, Renachowska Kornelia, Kitewska Wioleta, Kubziakowska Wiktoria, Sawicka Agnieszka, ZAWADZKA MARTA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Epilepsy Behav. - 2025 : vol. 171, art. ID 110622, s. 1-8, bibliogr. 24 poz., streszcz. ang.
7. Development and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study - Anikiej-Wiczenbach Paulina, Limanówka Monika, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Pierzynowska Karolina, Węgrzyn Grzegorz, WIERZBA JOLANTA, MILSKA-MUSA KATARZYNA, Mański Arkadiusz - J. Appl. Genet. - 2025 : vol. 66, nr 3, s. 647-652, bibliogr. [18] poz., streszcz. ang.
8. Ocrelizumab dose selection for treatment of pediatric relapsing - remitting multiple sclerosis: results of the OPERETTA I study - Mar Soe, Valeriani Massimiliano, Steinborn Barbara, Schreiner Teri, Waubant Emmanuelle, Filippi Massimo, Kotulska Katarzyna, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, El Azzouzi Bouchra, Lin Chien-Ju, Shen Yun-An, Kletzl Heidemarie, Evershed Joanna, Hogea Alexandra, Manlius Corinne, Bonati Ulrike, Banwell Brenda - J. Neurol. - 2025 : vol. 272, nr 2, s. 1-13, bibliogr. 26 poz., streszcz. ang.
9. ATP1A3 variants, variably penetrant short QT intervals, and lethal ventricular arrhythmias - Moya-Mendez Mary E., Bidzimou Minu-Tshyeto, Muralidharan Padmapriya, Zhang Zhushan, Ezekian Jordan E., Perelli Robin M., Parker Lauren E., Prange Lyndsey, Boggs April, Kim Jeffrey J., Howard Taylor S., Word Tarah A., Wehrens Xander H. T., Reyes Valenzuela Gabriela, Caraballo Roberto, Garone Giacomo, Vigevano Federico, Weckhuysen Sarah, Millevert Charissa, Troncoso Monica, Matamala Mario, Balestrini Simona, Sisodiya Sanjay M., Poole Josephine, Zucca Claudio, Panagiotakaki Eleni, Papadopoulou Maria T., Tchaicha Sébile, ZAWADZKA MARTA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Fons Carmen, Anticona Jennifer, De Grandis Elisa, Cordani Ramona, Pisciotta Livia, Groppa Sergiu, Paryjas Sandra, Ragona Francesca, Mangia Elena, Granata Tiziana, Megvinov Andrey, Pavlicek Mirjana, Ess Kevin, Simmons Christine Q., George Jr Alfred L., Vavassori Rosaria, Mikati Mohamad A., Landstrom Andrew P. - JAMA Pediatr. - 2025 : vol. 179, nr 5, s. 529-539, bibliogr. 46 poz., streszcz. ang.
10. Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial - Crawford Thomas O., Servais Laurent, Mercuri Eugenio, Kölbel Heike, Kuntz Nancy, Finkel Richard S., Krueger Jena, Batley Kaitlin, Young Sally Dunaway, Marantz, Jing L., Song Guochen, Yao Bert, Zhao Guolin, Rossello Jose, Tirucherai Giridhar S., Mazzone Elena Stacy, Butterfield Russell J., de la Banda Marta Gomez Garcia, Seferian Andreea M., Sansone Valeria A., De Waele Liesbeth, van der Pol W. Ludo, Cances Claude, Pechmann Astrid, Darras Basil T., i in., MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Lancet Neurol. - 2025 : vol. 24, nr 9, s. 727-739, bibliogr. 30 poz., streszcz. ang.
11. Expanding the allelic and clinical heterogeneity of movement disorders linked to defects of mitochondrial adenosine triphosphate synthase - Harrer Philip, KRYGIER MAGDALENA, Krenn Martin, Kittke Volker, Danis Martin, Krastev Georgi, Saparov Alice, Pichon Virginie, Malbos Marlène, Scherer Clarisse, Dzinovic Ivana, Skorvanek Matej, Kopajtich Robert, Prokisch Holger, Silvaieh Sara, Grisold Anna, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, de Sainte Agathe Jean-Madeleine, Winkelmann Juliane, Necpal Jan, Jech Robert, Zech Michael - Mov. Disord. - 2025 : vol. 40, nr 7, s. 1388-1400, bibliogr. 41 poz., streszcz. ang.
12. New progressive generalized dystonia phenotype in a patient with NBEA-related neurodevelopmental disease - Schinwelski Michał, KRYGIER MAGDALENA, SITEK EMILIA J., MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Zech Michael - Mov. Disord. Clin. Pract. - 2025 : vol. 12, nr 8, s. 1184-1186, bibliogr. 10 poz.
13. Role of neuroinflammation factors as potential biomarkers of epilepsy: a narrative review - ZAWADZKA MARTA, PIETRUSZKA MARTA, KRYGIER MAGDALENA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Neurol. Neurochir. Pol. - 2025 : vol. 59, nr 3, s. 210-220, bibliogr. 93 poz., streszcz. ang.
14. Case report of ischemic stroke in a child secondary to neuroborreliosis - Zakrzewski Dawid, Tomkiewicz Mateusz, Kubziakowska Wiktoria, ZAWADZKA MARTA, Szymarek Jakub, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Neurol. Sci. - 2025 : vol. 46, nr 9, s. 4497-4503, bibliogr. 47 poz., streszcz. ang.
15. Risdiplam in presymptomatic spinal muscular atrophy - Finkel Richard S., Servais Laurent, Vlodavets Dmitry, Zanoteli Edmar, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Jong Yuh-Jyh, Navas-Nazario Aledie, Al-Muhaizea Mohammad, Araujo Alexandra P.Q.C., Nelson Leslie, Wang Yi, Jaber Birgit, Gorni Ksenija, Kletzl Heidemarie, Palfreeman Laura, Rabbia Michael, Summers Dave, Gaki Eleni, Wagner Kathryn R., Fontoura Paulo, Farrar Michelle A., Bertini Enrico, i in., CHYLIŃSKA MAGDALENA, LEMSKA ANNA, WAŚKOWSKA AGNIESZKA, ŻUREK JAN - New Eng. J. Med. - 2025 : vol. 393, nr 7, s. 671-682, bibliogr. 39 poz., streszcz. ang.
16. TAOK1-related neurodevelopmental disorder: a new differential diagnosis for childhood-onset tremor! - KRYGIER MAGDALENA, Limanówka Monika, PIETRUSZKA MARTA, CHYLIŃSKA MAGDALENA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Zech Michael - Parkinsonism Relat. Disord. - 2025 : vol. 133, art. ID 107323, s. 1-2, bibliogr. 7 poz.
17. Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome - Dzwilewski Kamil, CHOJNOWSKI KAROL, KRYGIER MAGDALENA, ZAWADZKA MARTA, CHYLIŃSKA MAGDALENA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Neurol. Neurochir. Pol. - 2024 : vol. 58, nr 4, s. 468-470, bibliogr. 7 poz., streszcz. ang.
18. Management of neurological symptoms in Lesch-Nyhan disease: a systematic review - Krajewski Oliwier, OPIEŁKA MIKOŁAJ, URBANOWICZ KRZYSZTOF, CHOJNOWSKI KAROL, Kochany Paweł, Pawłowski Kacper, Tomaszewska Jagoda, PETERS GODEFRIDUS J., SMOLEŃSKI RYSZARD T., MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Neurosci. Biobehav. Rev. - 2024 : vol. 165, art. ID 105847, s. 1-13, bibliogr. [103] poz., streszcz. ang.
19. Study of nusinersen metabolites in the cerebrospinal fluid of children with spinal muscular atrophy using ultra-high-performance liquid chromatography coupled with quadrupole-time-of-flight mass spectrometry - Studzińska Sylwia, Błachowicz Oliwia, Bocian Szymon, Kalisz Oktawia, Jaworska Aleksandra, Szymarek Jakub, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Analyst - 2024 : vol. 149, nr 14, s. 3739-3746, bibliogr. 22 poz., streszcz. ang.
20. Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications - KRYGIER MAGDALENA, Pietruszka Marta, ZAWADZKA MARTA, Sawicka Agnieszka, LEMSKA ANNA, Limanówka Monika, ŻUREK JAN, TALAŚKA-LICZBIK WERONIKA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Front. Genet. - 2024 : vol. 14, art. ID 1300952, s. 1-14, bibliogr. [32] poz., streszcz. ang.
21. Evaluating the credibility and reliability of online information on cannabidiol (CBD) for epilepsy treatment in Poland - Zakrzewski Dawid M., Podlejska Patrycja, Kubziakowska Wiktoria, Dzwilewski Kamil, WASZAK PRZEMYSŁAW M., ZAWADZKA MARTA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Healthcare (Basel) - 2024 : vol. 12, nr 8, art. ID 830, s. 1-17, bibliogr. 32 poz., streszcz. ang.
22. Hydrophilic interaction liquid chromatography with mass spectrometry for the separation and identification of antisense oligonucleotides impurities and nusinersen metabolites - Vosáhlová Zuzana, Kalíková Květa, Gilar Martin, Szymarek Jakub, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Studzińska Sylwia - J. Chromatogr. A - 2024 : vol. 1713, art. ID 464535, s. 1-11, bibliogr. 40 poz., streszcz. ang.
23. Efficacy of nusinersen treatment in type 1, 2, and 3 spinal muscular atrophy: real-world data from a single-center study - LEMSKA ANNA, Rumiński Piotr, Szymarek Jakub, Studzinska Sylwia, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Neurol. Int. - 2024 : vol. 16, nr 6, s. 1266-1278, bibliogr. 35 poz., streszcz. ang.
24. Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats - Stanisławska-Sachadyn Anna, Krzemiński Michał, Zielonka Daniel, KRYGIER MAGDALENA, Ziętkiewicz Ewa, SŁAWEK JAROSŁAW, LIMON JANUSZ - Sci. Rep. - 2024 : vol. 14, art. ID 15729, s. 1-9, bibliogr. 41 poz., streszcz. ang.
25. The epilepsy phenotype of KCNK4-related neurodevelopmental disease - KRYGIER MAGDALENA, Ziętkiewicz Szymon, TALAŚKA-LICZBIK WERONIKA, CHYLIŃSKA MAGDALENA, Walczak Anna, Kostrzewa Grażyna, Płoski Rafał, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Seizure - 2024 : vol. 121, s. 114-122, bibliogr. 39 poz., streszcz. ang.
26. Genotype-phenotype correlations in Polish patients with SCN8A-related epilepsy: a multicentre observational study - Paprocka Justyna, Steinborn Barbara, KRYGIER MAGDALENA, Winczewska-Wiktor Anna, Przyslo Lukasz, Hutny Michał, Hoffman-Zacharska Dorota, Mazurkiewicz Hanna, Kochanowska Iwona, Zebrowska Joanna, ZAWADZKA MARTA, Piasecki Leszek, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Seizure - 2024 : vol. 120, s. 201-209, bibliogr. 31 poz., streszcz. ang.
27. Hyperkinetic movement disorder in FBXO28-related developmental and epileptic encephalopathy - KRYGIER MAGDALENA, TALAŚKA-LICZBIK WERONIKA, ZAWADZKA MARTA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Seizure - 2024 : vol. 119, s. 1-2, bibliogr. 3 poz., streszcz. ang.
28. EEG biomarkers for the prediction of post-traumatic epilepsy - a systematic review of an emerging field - PYRZOWSKI JAN, KAŁAS MARIA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, SIEMIŃSKI MARIUSZ - Seizure - 2024 : vol. 119, s. 71-77, bibliogr. 64 poz., streszcz. ang.
29. Improvement of serum sample preparation and chromatographic analysis of nusinersen used for the treatment of spinal muscular atrophy - Studzińska Sylwia, Szymarek Jakub, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Talanta - 2024 : vol. 267, art. ID 125173, s. 1-10, bibliogr. 32 poz., streszcz. ang.
30. Association between atopic dermatitis and epilepsy in Polish population - MAZURKIEWICZ-BEŁDZIŃSKA MARIA, ZAWADZKA MARTA, WASZAK PRZEMYSŁAW, Prokopiuk Milena, Religa Julia, Matwiejuk Weronika - Acta Derm. Venereol. - 2023 : vol. 103, suppl. adv18470, s. 23
31. Comparison of knowledge and awareness of epilepsy between medical students of two universities in Poland - Pietruszka Marta, Dzwilewski Kamil, Frydrych Marta, Michalik Magdalena, WASZAK PRZEMYSŁAW, ZAWADZKA MARTA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Epilepsy Behav. - 2023 : vol. 147, art. ID 109386, s. 1-7, bibliogr. 31 poz., streszcz. ang.
32. Impairment of cognitive functions in children and adolescents with focal epilepsy - Domańska Martyna, ZAWADZKA MARTA, KONIECZNA SEWERYNA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Heliyon - 2023 : vol. 9, nr. 6, art. ID e17210, s. 1-11, bibliogr. 51 poz., streszcz. ang.
33. A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia - Dubey Abhishek Anil, KRYGIER MAGDALENA, Szulc Natalia A., Rutkowska Karolina, Kosińska Joanna, Pollak Agnieszka, Rydzanicz Małgorzata, Kmieć Tomasz, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Pokrzywa Wojciech, Płoski Rafał - Hum. Mol. Genet. - 2023 : vol. 32, nr 7, s. 1152-1161, bibliogr. 54 poz., streszcz. ang.
34. Is atopic dermatitis only a skin disease? - Mesjasz Alicja, ZAWADZKA MARTA, Chałubiński Maciej, TRZECIAK MAGDALENA - Int. J. Mol. Sci. - 2023 : vol. 24, nr 1, art. ID 837, s. 1-14, bibliogr. 110 poz., streszcz. ang.
35. Polish recommendations for diagnosis and therapy of paediatric stroke - PILARSKA EWA, Kopyta Ilona, SZUROWSKA EDYTA, RADOŃ-PROSKURA JULIA, IRGA-JAWORSKA NINELA, KOZERA GRZEGORZ, SABINIEWICZ ROBERT, Emich-Wider Ewa, Wojczal Joanna - Neurol. Neurochir. Pol. - 2023 : t. 57, nr 3, s. 243-260, bibliogr. 110 poz., streszcz. ang.
36. Rdzeniowy zanik mięśni - badania przesiewowe u noworodków i ich rola w podjęciu wczesnego leczenia. Efekty terapeutyczne wczesnej terapii, możliwości wynikające z refundacji - LEMSKA ANNA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA - Post. Neonatol. - 2023 : t. 29, nr 2, s. 43-45, bibliogr. 12 poz., streszcz. pol., ang.