Publikacje w czasopismach z "listy filadelfijskiej" (z trzech ostatnich lat):

1. Expanding the phenotype of DNAJC30-associated Leigh syndrome - ZAWADZKA MARTA, KRYGIER MAGDALENA, Pawłowicz Małgorzata, Wilke Matheus Vernet Machado Bressan, Rutkowska Karolina, Gueguen Naig, Desquiret-Dumas Valerie, Klee Eric W., Schimmenti Lisa A., SŁAWEK JAROSŁAW, Procaccio Vincent, Płoski Rafał, MAZURKIEWICZ-BEŁDZIŃSKA MARIA. - Clin. Genet. - 2022 : vol. 102, nr 5, s. 438-443, bibliogr. 10 poz., streszcz. ang.
2. The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy - Fogarasi Andras, Fazzi Elisa, Smorenburg Ana R. P., MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Dinopoulos Argirios, Pobiecka Alena, Schröder-van den Nieuwendijk Dea, Kraus Josef, Tekgül Hasan, , LEMSKA ANNA, ZAWADZKA MARTA. - Disabil. Rehabil. - 2022 : vol. 44, nr 22, s. 6668-6675, bibliogr. 30 poz., streszcz. ang.
3. Epilepsy awareness among school-aged students in Poland - ZAWADZKA MARTA, Anuszkiewicz Karolina, Szmuda Marta, Błaszczyk Weronika, KNUROWSKA AGATA, Stogowski Piotr, Sokolewicz Ewa Maria, WASZAK PRZEMYSŁAW, MAZURKIEWICZ-BEŁDZIŃSKA MARIA. - Epilepsy Behav. - 2022 : vol. 128, art. ID 108603, s. 1-7, bibliogr. 31 poz., streszcz. ang.
4. COVID-19 pandemic influence on epilepsy course in pediatric patients - Anuszkiewicz Karolina, Stogowski Piotr, ZAWADZKA MARTA, WASZAK PRZEMYSŁAW, Sokolewicz Ewa, Dułak Natalia Aleksandra, Dzwilewski Kamil, Jażdżewska Karolina, Karbowiak Kamila, Karlińska Daria, Marczak Anna, Niebrzydowska Anna, Niebrzydowski Bartosz, Pasierbska Ewa, Sadowska Agnieszka, Szczęsna Małgorzata, Szczęsny Piotr Stanisław, Szerszenowicz Anna, Sztramski Kamil, Radziwon Jakub, Tkaczuk Magdalena, Ziołkowska Kinga, MAZURKIEWICZ-BEŁDZIŃSKA MARIA. - Epilepsy Behav. - 2022 : vol. 129, art. ID 108581, s. 1-9, bibliogr. 33 poz., streszcz. ang.
5. Recommendations for treatment strategies in people with epilepsy during times of shortage of antiseizure medications - Asadi-Pooya Ali A., Patel Archana A., Trinka Eugen, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Cross J. Helen, Welty Timothy E.. - Epileptic Disord. - 2022 : vol. 24, nr 5, s. 751-764, bibliogr. 62 poz., streszcz. ang.
6. FIREFISH Parts 1 and 2: 36-month safety and efficacy of risdiplam in Type 1 spinal muscular atrophy - Deconinck N., Baranello G., Boespflug-Tanguy O., Day J., Klein A., Masson R., MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Mercuri E., Rose K., Servais L., Vlodavets D., Xiong H., Zanoteli E., El-Khairi M., Gerber M., Gorni K., Kletzl H., Dodman A., Gaki E., Darras B.. - Eur. J. Neurol. - 2022 : vol. 29, suppl. 1, s. 279
7. Care in Europe after presenting to the emergency department with a seizure; position paper and insights from the European Audit of Seizure Management in Hospitals - Taylor Claire, Tudur-Smith Catrin, Dixon Pete, Linehan Christine, Gunko Aleksei, Christensen Jakob, Pearson Mike, Tomson Torbjorn, Marson Anthony, , MAZURKIEWICZ-BEŁDZIŃSKA MARIA. - Eur. J. Neurol. - 2022 : vol. 29, nr 7, s. 1873-1884, bibliogr. 26 poz., streszcz. ang.
8. Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy - Kotulska Katarzyna, Chmielewski Dariusz, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Tomaszek Katarzyna, Pierzchlewicz Katarzyna, Rabczenko Daniel, Przysło Łukasz, Biedroń Agnieszka, Czyżyk Elżbieta, Steinborn Barbara, Pietruszewski Jerzy, Boćkowski Leszek, Cichosz Dorota, Dudzińska Magdalena, Gadowska Elżbieta, Młynarczyk Elżbieta, Jasiński Mirosław, Masztalerz Anna, Kempisty Agnieszka, Kostera-Pruszczyk Anna. - Eur. J. Paediatr. Neurol. - 2022 : vol. 39, s. 103-109, bibliogr. 27 poz., streszcz. ang.
9. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes - Scala Marcello, Drouot Nathalie, MacLennan Suzanna C., Wessels Marja W., KRYGIER MAGDALENA, Pavinato Lisa, Telegrafi Aida, de Man Stella A., van Slegtenhorst Marjon, Iacomino Michele, Madia Francesca, Scudieri Paolo, Uva Paolo, Giacomini Thea, Nobile Giulia, Mancardi Maria Margherita, Balagura Ganna, Galloni Giovanni Battista, Verrotti Alberto, Umair Muhammad, Khan Amjad, Liebelt Jan, Schmidts Miriam, Langer Thorsten, Brusco Alfredo, LIPSKA-ZIĘTKIEWICZ BEATA S., Saris Jasper J., Charlet-Berguerand Nicolas, Zara Federico, Striano Pasquale, Piton Amélie. - Hum. Mutat. - 2022 : vol. 43, nr 9, s. 1299-1313, bibliogr. 55 poz., streszcz. ang.
10. Development of the method for nusinersen and its metabolites identification in the serum samples of children treated with spinraza for spinal muscular atrophy - Studzińska Sylwia, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Buszewski Bogusław. - Int. J. Mol. Sci. - 2022 : vol. 23, nr 17, art. ID 10166, s. 1-17, bibliogr. 30 poz., streszcz. ang.
11. Safety and efficacy of once-daily risdiplam in type 2 and non- ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial - Mercuri Eugenio, Deconinck Nicolas, Mazzone Elena S., Nascimento Andres, Oskoui Maryam, Saito Kayoko, Vuillerot Carole, Baranello Giovanni, Boespflug-Tanguy Odile, Goemans Nathalie, Kirschner Janbernd, Kostera-Pruszczyk Anna, Servais Laurent, Gerber Marianne, Gorni Ksenija, Khwaja Omar, Kletzl Heidemarie, Scalco Renata S., Staunton Hannah, Yeung Wai Yin, Martin Carmen, Fontoura Paula, Day John W., , MAZURKIEWICZ-BEŁDZIŃSKA MARIA, LEMSKA ANNA, SOBIERAJSKA-REK AGNIESZKA. - Lancet Neurol. - 2022 : vol. 21, nr 1, s. 42-52, bibliogr. 33 poz., streszcz. ang.
12. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial - Masson Riccardo, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Rose Kristy, Servais Laurent, Xiong Hui, Zanoteli Edmar, Baranello Giovanni, Bruno Claudio, Day John W., Deconinck Nicolas, Klein Andrea, Mercuri Eugenio, Vlodavets Dmitry, Wang Yi, Dodman Angela, El-Khairi Muna, Gorni Ksenija, Jaber Birgit, Kletzl Heidemarie, Gaki Eleni, Fontoura Paulo, Darras Basil T.. - Lancet Neurol. - 2022 : vol. 21, nr 12, s. 1110-1119, bibliogr. 34 poz., streszcz. ang.
13. Pediatric-onset multiple sclerosis in Poland: a registry-based retrospective cohort study - Brola Waldemar, Steinborn Barbara, Niewada Maciej, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Jóźwiak Sergiusz, Sobolewski Piotr, Żak Marek, Wilski Maciej, Bilska Małgorzata, Siedlarska Magdalena, Puzio-Bochen Iwona, Wencel-Warot Agnieszka, Lemka Małgorzata, Kroczka Sławomir, Czyżyk Elżbieta, Bocheńska Małgorzata, Emich-Widera Ewa, Pietruszewski Jerzy, Boćkowski Leszek, Kapica-Topczewska Katarzyna, Chorąży Monika, Kułakowska Alina, Ujma-Czapska Barbara, Przysło Łukasz, Połatyńska Katarzyna, Dudzińska Magdalena, Mitosek-Szewczyk Krystyna, Melnyk Aleksandra, Knap Małgorzata, Kotulska Katarzyna. - Mult. Scler. Relat. Disord. - 2022 : vol. 57, art. ID 103344, s. 1-7, bibliogr. 26 poz., streszcz. ang.
14. Use of cannabidiol in the treatment of epilepsy - MAZURKIEWICZ-BEŁDZIŃSKA MARIA, ZAWADZKA MARTA. - Neurol. Neurochir. Pol. - 2022 : t. 56, nr 1, s. 14-20, bibliogr. 41 poz., streszcz. ang.
15. Natural history of type 1 spinal muscular atrophy: a retrospective, global, multicenter study - Cances Claude, Vlodavets Dmitry, Comi Giacomo Pietro, Masson Riccardo, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Saito Kayoko, Zanoteli Edmar, Dodman Angela, El-Khairi Muna, Gorni Ksenija, Gravestock Isaac, Hoffart Janine, Scalco Renata S., Darras Basil T.. - Orphanet J. Rare Dis. - 2022 : vol. 17, nr 1, art. ID 300, s. 1-11, bibliogr. 37 poz., streszcz. ang.
16. Reflex seizures in rare monogenic epilepsies - KRYGIER MAGDALENA, ZAWADZKA MARTA, Sawicka Agnieszka, MAZURKIEWICZ-BEŁDZIŃSKA MARIA. - Seizure - 2022 : vol. 97, s. 32-34, bibliogr. 15 poz., streszcz. ang.
17. The prevalence of the restless legs syndrome/Willis-Ekbom disease among teenagers, its clinical characteristics and impact on everyday functioning - Pienczk-Ręcławowicz Karolina, PILARSKA EWA, Olszewska Anna, Ręcławowicz Daniel, KONIECZNA SEWERYNA, SŁAWEK JAROSŁAW. - Sleep Med. - 2022 : vol. 89, s. 48-54, bibliogr. 48 poz., streszcz. ang.
18. Peri-ictal headaches in the paediatric population : prospective study - ZAWADZKA MARTA, PILARSKA EWA, KONIECZNA SEWERYNA, SZMUDA MARTA, Matheisel Agnieszka, Lemska Anna, MODRZEJEWSKA SANDRA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA. - Cephalalgia - 2021 : vol. 41, nr 6, s. 690-700, bibliogr. 34 poz.
19. Nusinersen treatment of spinal muscular atrophy type 1 : results of expanded access programme in Poland - MODRZEJEWSKA SANDRA, Kotulska Katarzyna, Kopyta Ilona, Grędowska Ewa, Emich-Widera Ewa, Tomaszek Katarzyna, Paprocka Justyna, Chmielewski Dariusz, Pilch Jacek, Pietruszewski Jerzy, LEMSKA ANNA, ZAWADZKA MARTA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA. - Neurol. Neurochir. Pol. - 2021 : t. 55, nr 3, s. 289-294, bibliogr. 23 poz., streszcz. ang.
20. Cannabidiol in conjunction with clobazam: analysis of four randomized controlled trials - Gunning Boudewijn, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Chin Richard F. M., Bhathal Hari, Nortvedt Charlotte, Dunayevich Eduardo, Checketts Daniel. - Acta Neurol. Scand. - 2021 : vol. 143, nr 2, s. 154-163, bibliogr. 42 poz., streszcz.. ang.
21. Unstable Graves' disease as a precipitating factor for cerebral sinus venous thrombosis - Anuszkiewicz Karolina, Szerszenowicz Anna, Dzwilewski Kamil, Geryk Nicole, ZAWADZKA MARTA, RADOŃ-PROSKURA JULIA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA. - Endokrynol. Pol. - 2021 : vol. 72, nr 6, s. 678-679, bibliogr. 5 poz.
22. Time to onset of cannabidiol (CBD) treatment effect in Lennox-Gastaut syndrome : analysis from two randomized controlled trials - Privitera Michael, Bhathal Hari, Wong Matthew, Cross J. Helen, Wirrell Elaine, Marsh Eric D., MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Villanueva Vicente, Checketts Daniel, Knappertz Volker, VanLandingham Kevan. - Epilepsia - 2021 : vol. 62, nr 5, s. 1130-1140, bibliogr. 39 poz., streszcz. ang.
23. Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: results of a long-term open-label extension trial - Patel Anup D., MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Chin Richard F., Gil- Nagel Antonio, Gunning Boudewijn, Halford Jonathan J., Mitchell Wendy, Scott Perry Michael Scott, Thiele Elizabeth A., Weinstock Arie, Dunayevich Eduardo, Checketts Daniel, Devinsky Orrin. - Epilepsia - 2021 : vol. 62, nr 9, s. 2228-2239, bibliogr. 27 poz., streszcz. ang.
24. False-negative tests in Huntington's disease : a new variant within primer hybridization site - DULSKI JAROSŁAW, Sulek Anna, KRYGIER MAGDALENA, Radziwonik Wiktoria, SŁAWEK JAROSŁAW. - Eur. J. Neurol. - 2021 : vol. 28, nr 6, s. 2103-2105, bibliogr. 7 poz., streszcz. ang.
25. Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies - MAZURKIEWICZ-BEŁDZIŃSKA MARIA, del Toro Mireia, Haliloglu Göknur, Huidekoper Hidde H., Kravljanac Ružica, Mühlhausen Chris, Andersen Brian Nauheimer, Prpić Igor, Striano Pasquale, Auvin Stéphane. - Expert Rev. Neurother. - 2021 : vol. 21, nr 11, s. 1275-1282, bibliogr. 74 poz., streszcz. ang.
26. Delayed-release dimethyl fumarate safety and efficacy in pediatric patients with relapsing-eemitting multiple sclerosis - Alroughani Raed, Huppke Peter, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Blasche Astrid, Valis Martin, Aaen Gregory, Pultz Joe, Peng Xiaomei, Beynon Vanessa. - Front. Neurol. - 2021 : vol. 11, art. ID 606418, s. 1-9, bibliogr. 49 poz., streszcz. ang.
27. Cardiovascular risk profile in young patients with epilepsy - SZCZURKOWSKA PATRYCJA, WOLF JACEK, Polonis Katarzyna, Becari Christiane, PILARSKA EWA, HOFFMANN MICHAŁ, CHROSTOWSKA MARZENA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA, NARKIEWICZ KRZYSZTOF. - J. Hypertens. - 2021 : vol. 39, e-Suppl. 1, s. e156
28. Milestones in genetics of cerebellar ataxias - KRYGIER MAGDALENA, MAZURKIEWICZ-BEŁDZIŃSKA MARIA. - Neurogenetics - 2021 : vol. 22, nr 4, s. 225-234, bibliogr. 69 poz., streszcz. ang.
29. Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls - Darras B. T., Masson R., MAZURKIEWICZ-BEŁDZIŃSKA MARIA, Rose K., Xiong H., Zanoteli E., Baranello G., Bruno C., Vlodavets D., Wang Y., El-Khairi M., Gerber M., Gorni K., Khwaja O., Kletzl H., Scalco R. S., Fontoura P., Servais L.. - New Eng. J. Med. - 2021 : vol. 385, nr 5, s. 427-435, bibliogr. 20 poz., streszcz. ang.