نتائج البحث - "Anna Kostera-Pruszczyk"

1

A form of muscular dystrophy associated with pathogenic variants in JAG2

المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn

المصدر: The American Journal of Human Genetics
Am J Hum Genet

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30bTest
https://doi.org/10.1016/j.ajhg.2021.03.020Test

2

Lower BAFF Levels in Myasthenic Patients Treated with Glucocorticoids

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

المصدر: Archivum Immunologiae et Therapiae Experimentalis

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

3

Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

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

4

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation

المؤلفون: Małgorzata Stępień-Wojno, Dorota Rowczenio, Anna Kostera-Pruszczyk, Robert Petrovic, Joanna Brydak-Godowska, Jacek Grzybowski, Ján Chandoga, Marta Lipowska, Monika Gawor, Agnieszka Ptasińska-Perkowska, Hanna Drac, Philip N. Hawkins, Janusz Szewczuk, Maria Franaszczyk, Anetta Lasek-Bal, Renata Śmierciak, Janet A. Gilbertson

المصدر: Neurologia i neurochirurgia polska. 54(6)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde596b492d1b50f293666118a4eef0cTest
https://pubmed.ncbi.nlm.nih.gov/33373035Test

5

The needle EMG findings in myotonia congenita

المؤلفون: Wioletta Krysa, Anna Sulek, Anna Kamińska, Monika Nojszewska, Malgorzata Gawel, Andrzej Seroka, Janusz Sierdziński, Anna Lusakowska, Anna Kostera-Pruszczyk, Ewelina Elert-Dobkowska

المصدر: Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology. 49

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a983a6f54832569373e5a885ca64b7Test
https://pubmed.ncbi.nlm.nih.gov/31610484Test

6

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

المؤلفون: Paul Maddison, L. Phillips, Anna Kostera-Pruszczyk, Anna Łusakowska, Ana Töpf, L. Xu, Daniel G. MacArthur, Marta Bertoli, Kristl G. Claeys, Monkol Lek, Ela Akay, Katherine Johnson, Alexandra Bastian, Volker Straub, Stojan Peric, Vidosava Rakocevic Stojanovic, Andreas Hahn

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Orphanet journal of rare diseases 12(1), 173 (2017). doi:10.1186/s13023-017-0722-1
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Candidate gene, Adolescent, lcsh:Medicine, Biology, Compound heterozygosity, Bioinformatics, Sequence variants, Frameshift mutation, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Glycogen storage disease type II, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, Muscle Weakness, Glycogen Storage Disease Type II, Genetic heterogeneity, Research, lcsh:R, Whole exome sequencing, Genetic Variation, Muscle weakness, Pompe disease, alpha-Glucosidases, General Medicine, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Female, medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a5bb4bbf80ab971616404ecc7b297cTest
http://link.springer.com/article/10.1186/s13023-017-0722-1Test

7

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Ataxia, Adolescent, Mitochondrial disease, Population, Mutation, Missense, Genes, Recessive, Biology, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Humans, Allele, Child, education, Molecular Biology, Allele frequency, Genetics, education.field_of_study, Infant, Newborn, Infant, Diffuse Cerebral Sclerosis of Schilder, Cell Biology, Middle Aged, medicine.disease, DNA Polymerase gamma, 030104 developmental biology, Amino Acid Substitution, Child, Preschool, Cohort, Molecular Medicine, Female, Poland, medicine.symptom, Age of onset, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d39a01306f49659e344165510d03ed2Test
https://ruj.uj.edu.pl/xmlui/handle/item/112814Test

8

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test

9

MuSK autoantibodies in myasthenia gravis detected by cell based assay - A multinational study

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience

المصدر: Journal of Neuroimmunology, 284, 10-17. Elsevier
Journal of Neuroimmunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c566b9ba7e0928a801e300de6d24f7fTest
https://doi.org/10.1016/j.jneuroim.2015.04.015Test

10

Antititin antibody in early- and late-onset myasthenia gravis

المؤلفون: Nils Erik Gilhus, Marta Lipowska, Małgorzata Dutkiewicz, Anna Kostera-Pruszczyk, Justyna Kubiszewska, Beata Szyluk, Piotr Szczudlik, Barbara Ryniewicz

المصدر: Acta Neurologica Scandinavica. 130:229-233

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8291b6fd292697be4a23196a8fdcf905Test
https://doi.org/10.1111/ane.12271Test

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