المؤلفون: Biruta Kierdaszuk, Olga Zdończyk, Mateusz Jermakow, Piotr Bienias, Agnieszka Miroszewska, Anna Kostera-Pruszczyk, Magdalena Kaliszewska, Anna Maria Gawałkiewicz, Marta Jaworska, Piotr Pruszczyk

المصدر: Journal of Electrocardiology. 65:136-142

مصطلحات موضوعية: Adult, medicine.medical_specialty, Mitochondrial Diseases, Mitochondrial disease, 030204 cardiovascular system & hematology, QT interval, Electrocardiography, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Repolarization, In patient, cardiovascular diseases, 030212 general & internal medicine, Aged, medicine.diagnostic_test, business.industry, Non invasive, Arrhythmias, Cardiac, Middle Aged, Intraventricular conduction, medicine.disease, cardiovascular system, Cardiology, Cardiology and Cardiovascular Medicine, business, Atrioventricular block

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa372fad812a396615978b537055356Test
https://doi.org/10.1016/j.jelectrocard.2021.01.021Test

المؤلفون: Agnieszka Cieniewicz, Radosław Owczuk, Janusz Trzebicki, Ewa Mayzner-Zawadzka, Anna Kostera-Pruszczyk

المصدر: Anaesthesiology Intensive Therapy, Vol 51, Iss 3, Pp 169-177 (2019)

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, RC86-88.9, MEDLINE, Malignant hyperthermia, Medical emergencies. Critical care. Intensive care. First aid, General Medicine, Critical Care and Intensive Care Medicine, medicine.disease, Anesthesiology and Pain Medicine, Anesthesiology, Neuromuscular Depolarizing Agents, Internal medicine, Anesthetics, Inhalation, medicine, Humans, RD78.3-87.3, Malignant Hyperthermia, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4c9ad6b526915ebb6c355be6f679beeTest
https://www.termedia.pl/Malignant-hyperthermia-what-do-we-know-in-2019-,118,37560,1,1.htmlTest

المؤلفون: Beata Szyluk, Marta Lipowska, Piotr Szczudlik, Ewa Sobieszczuk, Anna Kostera-Pruszczyk, Małgorzata Dutkiewicz, Justyna Kubiszewska

المصدر: Archivum Immunologiae et Therapiae Experimentalis

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Immunology, Gastroenterology, Young Adult, Internal medicine, Myasthenia Gravis, medicine, Humans, Immunology and Allergy, In patient, B-cell activating factor, Glucocorticoids, Cytokine, Aged, Aged, 80 and over, Adult patients, biology, business.industry, MG, Thymus Neoplasms, General Medicine, Middle Aged, medicine.disease, Myasthenia gravis, Thymectomy, Cross-Sectional Studies, biology.protein, BAFF, Original Article, Female, Tumor necrosis factor alpha, Antibody, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77db3a00fb1f1d67723379a755049facTest
https://doi.org/10.1007/s00005-021-00626-5Test

المؤلفون: Biruta Kierdaszuk, Anna Kostera-Pruszczyk, Miłosz Jastrzębski, Marta Lipowska, Anna Łusakowska, Aleksandra Jastrzębska, Anna Potulska-Chromik, Anna Kamińska

المصدر: Acta Neurologica Scandinavica. 140:239-243

مصطلحات موضوعية: Adult, Male, myalgia, medicine.medical_specialty, Adolescent, Compound heterozygosity, Frameshift mutation, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Genetic Testing, 030212 general & internal medicine, Child, Aged, Aged, 80 and over, Glycogen Storage Disease Type II, business.industry, Muscle weakness, General Medicine, Enzyme replacement therapy, Middle Aged, Dried blood spot, Muscular Dystrophies, Limb-Girdle, Neurology, Child, Preschool, Mutation, Cohort, Female, Dried Blood Spot Testing, Poland, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a96c46828960b42652f1ea1167996dTest
https://doi.org/10.1111/ane.13133Test

المؤلفون: Stella Mazurová, John W. Day, Mazen M. Dimachkie, Sónia Tizon, Anna Kostera-Pruszczyk, Tahseen Mozaffar, Joel Charrow, Chafic Karam, Ricardo Maré, Jean-Baptiste Noury, Dewi Guellec, Jorge Alonso-Pérez, Acary Souza Bulle Oliveira, Loren D M Pena, Tianyue Zhou, Sergey Illarioshkin, Nathan Thibault, Marcelo Rugiero, Can Ebru Bekircan-Kurt, Lauren Chase, Monica Sciacco, Mamatha Pasnoor, Jenny Billy, Mark Tarnopolsky, Fabien Zagnoli, Marie Wencel, Sevim Erdem-Ozdamar, Erin Hatcher, Madoka Mori, Céline Tard, Nicolas Mavroudakis, Emmanuelle Salort-Campana, Antonio Toscano, Shafeeq Ladha, Angela Genge, Ans T. van der Ploeg, Michela Guglieri, Judith Johnson, Fanny Duval, Loïc Danjoux, Christopher Hug, Robert D. Henderson, Robert Neel, Luca Solera, Aleksandra Nadaj-Pakleza, Silvia Boschi, Nizar Chahin, Maurizio Gualtiero Moggio, Peter Young, Priya S. Kishnani, Yin-Hsiu Chien, Alexandra Kautzky-Willer, Claire Questienne, Francoise Bouhour, Gabriela A Niizawa, Ekaterina Fedotova, Tiziana Enrica Mongini, Harmke A. van Kooten, Vera Malinova, Sina Helms, Shahram Attarian, Patrick Deegan, Guilhem Sole, Hamilton Cirne, Ludwig Gutmann, Kenneth I. Berger, Laura Carrera Garcia, N A M E van der Beek, Stephanie Dearmey, Suzara Souto Lopes, Anna Potulska-Chromik, Joao Lindolfo Borges, Yesim Parman, Michaela Riedl, Sergey A. Klyushnikov, Olivier Huynh-Ba, Gauthier Remiche, Paula R. Clemens, Andrea Swenson, Stephan Wenninger, Miriam Hufgard-Leitner, Eugen Mengel, Kristina An Haack, Eve Gandolfo, David Reyes-Leiva, Jean-Baptiste Davion, Chester Whitley, Young Chul Choi, Patricia Altemus, Maria Judit Molnar, Perry B. Shieh, Matthias Vorgerd, Julia B Hennermann, Cheryl Smith, Volker Straub, Lauren Noll, Pascal Laforet, Andres Nascimento Osorio, Clarisa Maxit, Anne-Catherine Aubé-Nathier, Ozlem Goker-Alpan, Olimpia Musumeci, Louisa Müller-Miny, Tarekegn Hiwot, Jacqui Langton, Christopher Nance, Daniel Natera-de Benito, Jeffrey Statland, Nicola Longo, Vivien Pautot, Zoltan Grosz, Thomas Stulnig, Matthias Boentert, Anne-Katrin Guettsches, Chong Yew Tan, Erik Ortega, Derralynn Hughes, Hacer Durmus Tekce, Mark Roberts, Lenka Linková, Amel Karaa, Hani Kushlaf, Anthony Behin, Margarida Ramos Lopes, Jordi Diaz-Manera, Alessia Pugliese, Paulo Victor Sgobbi Souza, Carrie Bailey, Jennifer B Avelar, Hirofumi Komaki, Frederic Taithe, Benedikt Schoser, Sabine Specht, Kathryn E Brown, Gerson Carvalho

المساهمون: Pediatrics

المصدر: The Lancet Neurology, 20(12), 1012-1026. Lancet Publishing Group

مصطلحات موضوعية: medicine.medical_specialty, Population, Walking, FEV1/FVC ratio, stomatognathic system, SDG 3 - Good Health and Well-being, Double-Blind Method, Internal medicine, Statistical significance, Child, Preschool, Enzyme Replacement Therapy, Humans, Treatment Outcome, Glycogen Storage Disease Type II, alpha-Glucosidases, medicine, Respiratory function, Adverse effect, education, Child, Preschool, Alglucosidase alfa, education.field_of_study, business.industry, Standard treatment, virus diseases, Enzyme replacement therapy, Neurology (clinical), business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070f1f6f1e025674e4ced58aa9218fbfTest
http://hdl.handle.net/11570/3218654Test

المؤلفون: Anna Kostera-Pruszczyk, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Biruta Kierdaszuk, Magdalena Kaliszewska, Katarzyna Tońska, Anna Kamińska

المصدر: Genes
Volume 12
Issue 1
Genes, Vol 12, Iss 54, p 54 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial encephalomyopathy, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, Gene Expression, Kearns-Sayre Syndrome, TWNK gene, 0302 clinical medicine, Cerebellum, Medicine, Child, Genetics (clinical), Sequence Deletion, Middle Aged, DNA Polymerase gamma, Mitochondria, Pedigree, Female, medicine.symptom, muscle biopsy, RNASEH1 gene, Adult, medicine.medical_specialty, Mitochondrial DNA, Adolescent, lcsh:QH426-470, Mitochondrial disease, Genetic counseling, Ribonuclease H, DNA, Mitochondrial, Article, Ophthalmoparesis, Diagnosis, Differential, Mitochondrial Proteins, multiple mitochondrial DNA deletions, 03 medical and health sciences, mitochondrial disorders, Mitochondrial Encephalomyopathies, POLG gene, Internal medicine, Genetics, Humans, Muscle, Skeletal, Cerebrum, Aged, Polymorphism, Genetic, business.industry, External ophthalmoplegia, DNA Helicases, medicine.disease, progressive external ophthalmoplegia, lcsh:Genetics, 030104 developmental biology, Poland, mitochondrial DNA deletions, business, Chronic progressive external ophthalmoplegia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5e9eb9fa21a47ae74a18085f3fdcc0Test

المؤلفون: Lucy Lam, Jiri Pitha, John Vissing, Laura Fionda, Denis Korobko, Michael Pulley, Tony Vangeneugden, Silvia Bonanno, Nobuhiro Ido, Jerrica Farias, Jafar Shabanpour, James Gilchrist, Girolamo Alfieri, Gyorgyi Szabo, Carlayne E. Jackson, Eduardo Ng, Csilla Rozsa, Hans D. Katzberg, Carlo Antozzi, Aleksandra Golenia, Sayaka Ishida, Temur Margania, Andrzej Szczudlik, Richard J. Barohn, Mari Suzuki., Robert Henegar, Kaoru Sakuma, Evanthia Bernitsas, Elena Lapochka, Yukiko Ozawa, Tomihiro Imai, Debbie Hastings, Antonio Guglietta, Benjamin Frishberg, Elena Antipenko, Vera Bril, Stanislav Vohanka, Isela Hernandez, Ivo Bozovic, Ilona Vergunova, Lorenzo Maggi, Andreas Meisel, Ali Malekniazi, Tahseen Mozaffar, Emmanuelle Salort-Campana, Yasmin Camberos, Jan J.G.M. Verschuuren, Masayuki Masuda, Masanori Takahashi, Yoshihiko Okubo, Marek Smilowski, Yasushi Suzuki, Mary Wagoner, Andrew Heim, David Bors, Chiho Watanabe, Fiammetta Vanoli, Antonio Reia, Zubair Quraishi, Omar Jawdat, Makoto Samukawa, Gregory Sahagian, Gedeonne Margo Jakab, Eiichi Nomura, Samantha Colgan, Cindy Benzel, Ayako Mori, Annabel M. Ruiter, Ratna Bharavaju-Sanka, Roman Shakarishvili, Victoria Cannon, Malkova Nadezhda, Tomas Horak, Anna Kostera-Pruszczyk, Eniko Szabo, Emilien Delmont, Alexander Tsiskaridze, Lubna Daniyal, Vidosava Rakocevic Stojanovic, Szilvia Toth, Siegfried Kohler, Iveta Novakova, Katherine Roath, Kazuna Ikeda, Salma Akhter, Claudia Heibutzki, Martijn R. Tannemaat, Marta Pinkosz, Mads Peter Godtfeldt Stemmerik, Chafic Karam, Irys Caristo, Carolyn Paiz, Josef Bednarik, Monika Frasinska, Stefania Morino, Norianne Pimentel, Kanako Minemoto, Rekha Pillai, Linda Wagemaekers, Annelien De Pue, Irina Poverennova, Katerina Reguliova, Jana Junkerova, Angela Marsili, Anne-Marie Peters, Maren Wyckmans, Michaela Tyblova, Debbie Eggleston, Anne Mette Ostergaard Autzen, Takamichi Sugimoto, Kuldeep Kumar Khatri, Niraja Suresh, Jan De Bleecker, Lea Gerischer, Grazyna Zwolinska, Kevin R Keene, Yosuke Onishi, Francesco Saccà, Zaeem A. Siddiqi, Marjolein Van Heur, Jeffrey Statland, Tatiana Romanova, Diana Dimitrova, Stojan Peric, Tomoko Tsuda, Cathy Bailey, Lubov Urtaeva, Lizzie Zafirakos, Katherine Ruzhansky, Tomoya Kubota, Angela Campanella, Nadezhda Kuznetsova, Sarah Jones, Giovanni Antonini, Hiroyuki Murai, Luca Leonardi, Alan R. Berger, Jonathan Baets, Peter Ulrichts, Said R. Beydoun, Michala Jakubikova, Mamatha Pasnoor, James F. Howard, Leila Darki, Katerina Havelkova, Namita Goyal, Akiyuki Uzawa, Tia Nguyen, Miki Takaki, Matteo Garibaldi, Manisha Kak, Ivonne Turner, Aude-Marie Grapperon, Mageda Horakova, Yuebing Li, Ivana Basta, Lech Szczechowski, Shabber Mannan, Aneta Pasko, Caroline Vinck, Riccardo Giossi, Rudolf Mercelis, Ivana Jurajdova, Lesly Welsh, Małgorzata Bilińska, Marek Halas, Dragana Lavrnic, Kimiaki Utsugisawa, Todd Levine, Erik Velasquez, Daisuke Yamamoto, Constantine Farmakidis, John Anthony Morren, Sarah Hoffman, Manisha Chopra, Shingo Konno, Rita Frangiamore, Kelly Jia, Jana Horakova, Anna Melnikova, Piotr Szczudlik, Ali Habib, Giorgia Puorro, Michael D. Weiss, Robert P. Lisak, Hiroyuki Naito, Shahram Attarian, Hiroko Nakamura, Shin Hisahara, Mazen M. Dimachkie, Genya Watanabe, Duaa Jabari, Ekaterina Bulatova, Angela Genge, Makiko Naito, Melissa Currence, Henning Andersen, Katrien De Mey, Kathy de Koning, Yuen T. So, Chiara Pane, Renato Mantegazza, Rebecca Traub, Manato Yasuda, Amy Visser, Dike Remstedt, Yuka Takematsu, Frauke Stascheit, Ayumi Kamei, Tuan Vu, Tulio E. Bertorini, Ludivine Kouton, Neelam Goyal, Flicia Mada, Nizar Chahin, Mihiro Shimizu, Srikanth Muppidi, Erina Sugano

المصدر: ADAPT Investigator Study Group 2021, ' Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT) : a multicentre, randomised, placebo-controlled, phase 3 trial ', The Lancet Neurology, vol. 20, no. 7, pp. 526-536 . https://doi.org/10.1016/S1474-4422Test(21)00159-9
The lancet neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Population, fc fragment, Placebo, Antibodies, Monoclonal, Humanized, law.invention, efgartigimod, myasthenia gravis, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Internal medicine, Activities of Daily Living, Myasthenia Gravis, medicine, Clinical endpoint, Humans, Receptors, Cholinergic, Dosing, Longitudinal Studies, education, Biology, Autoantibodies, education.field_of_study, business.industry, Headache, Antibodies, Monoclonal, Middle Aged, medicine.disease, Myasthenia gravis, 3. Good health, Immunoglobulin Fc Fragments, Clinical trial, Chemistry, 030104 developmental biology, Tolerability, Female, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be57499b1a7a7d2e60c700dc07fa4eeTest
https://pubmed.ncbi.nlm.nih.gov/34426685Test

المؤلفون: Ewa Sobieszczuk, Beata Szyluk, Anna Kostera-Pruszczyk, Marta Lipowska, Piotr Szczudlik, Justyna Kubiszewska

المصدر: Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurology

مصطلحات موضوعية: medicine.medical_specialty, obesity, SF-36, Disease, Overweight, Single Center, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Internal medicine, Medicine, 030212 general & internal medicine, lcsh:Neurology. Diseases of the nervous system, Original Research, myasthenia gravis, business.industry, MGFA, medicine.disease, Obesity, Myasthenia gravis, humanities, Neurology, quality of life, employment, Neurology (clinical), Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951b553207e1e3a7196531d337390bc2Test
https://www.frontiersin.org/article/10.3389/fneur.2020.553626/fullTest

المؤلفون: Magdalena Kozakowska, Paulina Podkalicka, Katarzyna Pietraszek-Gremplewicz, Jozef Dulak, Urszula Głowniak-Kwitek, Michal Mikula, Anna Kostera-Pruszczyk, Olga Mucha, Jerzy Ostrowski, Agnieszka Łoboda, Maciej Cieśla, Alicja Jozkowicz, Karolina Bukowska-Strakova, Maria Kulecka, Iwona Bronisz-Budzyńska, Anna Potulska-Chromik, Anna Cetnarowska

المصدر: JCI Insight

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, medicine.medical_specialty, Satellite Cells, Skeletal Muscle, Noncoding RNAs, Duchenne muscular dystrophy, Down-Regulation, Inflammation, Transcriptome, Mice, 03 medical and health sciences, Gastrocnemius muscle, 0302 clinical medicine, Fibrosis, Internal medicine, medicine, Animals, Muscular dystrophy, Muscle, Skeletal, Mice, Knockout, biology, business.industry, General Medicine, FGF1, medicine.disease, Muscular Dystrophy, Duchenne, MicroRNAs, 030104 developmental biology, Endocrinology, 030220 oncology & carcinogenesis, Muscle Biology, Mice, Inbred mdx, biology.protein, Muscle, Fibroblast Growth Factor 1, medicine.symptom, business, Dystrophin, Research Article, Genetic diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::393619b978ccae3831660254c3df6793Test
https://doi.org/10.1172/jci.insight.135576Test

المؤلفون: Karolina Bukowska-Strakova, Jacek Stępniewski, Urszula Glowniak, Magdalena Madej, Alicja Jozkowicz, Agnieszka Loboda, Krzysztof Szade, Iwona Bronisz-Budzyńska, Anna Kostera-Pruszczyk, Maciej Ciesla, Anna Kamińska, Olga Mucha, Kalina Andrysiak, Mateusz Jez, Paulina Podkalicka, Katarzyna Pietraszek-Gremplewicz, Magdalena Kozakowska, Jozef Dulak

المصدر: Antioxidants & Redox Signaling. 29:128-148

مصطلحات موضوعية: Male, 0301 basic medicine, muscle satellite cells, HMOX1, Physiology, Duchenne muscular dystrophy, Clinical Biochemistry, Biochemistry, Dystrophin, chemistry.chemical_compound, 0302 clinical medicine, Medicine, Muscular dystrophy, Child, Heme, Cells, Cultured, General Environmental Science, Mice, Knockout, microRNA, biology, heme oxygenase-1, Cell Differentiation, Phenotype, medicine.anatomical_structure, Child, Preschool, Disease Progression, medicine.symptom, muscular dystrophy, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Satellite Cells, Skeletal Muscle, Inflammation, 03 medical and health sciences, Internal medicine, Animals, Humans, skeletal muscle, Muscle, Skeletal, Molecular Biology, business.industry, Membrane Proteins, Skeletal muscle, Cell Biology, medicine.disease, Muscular Dystrophy, Duchenne, Heme oxygenase, MicroRNAs, 030104 developmental biology, Endocrinology, chemistry, inflammation, Mice, Inbred mdx, biology.protein, General Earth and Planetary Sciences, business, Heme Oxygenase-1, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969f7244b0d6cd27cd2f89b7081dd63dTest
https://doi.org/10.1089/ars.2017.7435Test