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

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

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Needle emg, Adolescent, Myotonia Congenita, Myotonic discharges, Biophysics, Neuroscience (miscellaneous), Genes, Recessive, Biceps, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Child, Muscle, Skeletal, Genes, Dominant, CLCN1, biology, business.industry, Myotonia congenita, Electromyography, 030229 sport sciences, Middle Aged, medicine.disease, Evoked Potentials, Motor, Motor unit, Child, Preschool, Significant positive correlation, Mutation, biology.protein, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

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

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

المؤلفون: Anna Potulska-Chromik, Małgorzata Łukawska, Anna Kostera-Pruszczyk, Dorota Hoffman-Zacharska

المصدر: Neurologia i Neurochirurgia Polska. 51:1-6

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Levodopa, Adolescent, Genotype, Ubiquitin-Protein Ligases, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Age of Onset, Child, GTP Cyclohydrolase, Dystonia, Mutation, business.industry, Parkinsonism, Parkinson Disease, medicine.disease, Pedigree, nervous system diseases, Phenotype, 030104 developmental biology, Dystonic Disorders, Female, Surgery, Neurology (clinical), Age of onset, business, Neuroscience, 030217 neurology & neurosurgery, Dystonic disorder, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6d12f3d1701ef3ed3242621b4a9cb35Test
https://doi.org/10.1016/j.pjnns.2016.07.013Test

المؤلفون: Maria de los Angeles Beytía, Anna Lusakowska, Petr Vondráček, Birgit F. Steffensen, Sam Doerken, K. Gramsch, Agnes Herczegfalvi, Hanns Lochmüller, Kate Bushby, Veronika Karcagi, Anna Kostera-Pruszczyk, Marta Garami, Adrian Tassoni, Teodora Chamova, Lenka Mrázová, Lenka Pavlovska, Sunil Rodger, Velina Guergueltcheva, Rachel Thompson, J. Vry, Jes Rahbek, Janbernd Kirschner, Jana Strenková, Ivailo Tournev, Anna Kamińska

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: Male, Research Report, 0301 basic medicine, Gerontology, standards of care, Cross-sectional study, Duchenne muscular dystrophy, Alternative medicine, Age dependent, functional status, 0302 clinical medicine, Adrenal Cortex Hormones, Surveys and Questionnaires, Milestone (project management), Medicine, Registries, Practice Patterns, Physicians', Young adult, Child, Age Factors, Standard of Care, Middle Aged, Respiratory Function Tests, 3. Good health, Patient management, Europe, Neurology, Echocardiography, Child, Preschool, Practice Guidelines as Topic, Guideline Adherence, Psychosocial, Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Young Adult, 03 medical and health sciences, Humans, Physical Therapy Modalities, business.industry, Infant, medicine.disease, nervous system diseases, Muscular Dystrophy, Duchenne, Cross-Sectional Studies, 030104 developmental biology, Physical therapy, Neurology (clinical), business, corticosteroid treatment, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e96d0ce7fb96be91956cbc2e6104a65fTest
https://doi.org/10.3233/jnd-160185Test

المؤلفون: Małgorzata Dorobek, Mariusz Ołtarzewski, Ewa Bartnik, Edyta Szymańska, Aleksandra Głowacka, Anna Łusakowska, Elżbieta Ciara, Marta Lipowska, Krystyna H. Chrzanowska, Dorota Piekutowska-Abramczuk, Biruta Kierdaszuk, Katarzyna Tońska, Joanna Pera, Natalia Jurkowska, Jiri Zeman, Małgorzata Rydzanicz, Anna Sulek, Anna Kamińska, Karolina Langiewicz-Wojciechowska, Dariusz Chmielewski, Magdalena Kaliszewska, Marketa Tesarova, Bogdan Brodacki, Paweł Kowalski, Grzegorz Placha, Rafał Płoski, Ewa Jabłońska, Małgorzata Krajewska-Walasek, Joanna Trubicka, Anna Kostera-Pruszczyk, Agnieszka Bakuła, Ewa Pronicka, Dariusz Kuczyński

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

المؤلفون: Anna Kostera-Pruszczyk, Miłosz Jastrzębski, Aleksandra Jastrzębska, Barbara Ryniewicz

المصدر: Musclenerve. 59(5)

مصطلحات موضوعية: 0301 basic medicine, Male, Activities of daily living, Physiology, medicine.medical_treatment, Health Status, 030105 genetics & heredity, Cholinergic Antagonists, Cohort Studies, 0302 clinical medicine, Surveys and Questionnaires, Activities of Daily Living, Receptors, Cholinergic, Age of Onset, Child, Medical record, Immunoglobulins, Intravenous, Immunosuppression, Plasmapheresis, Thymectomy, Treatment Outcome, Cohort, Disease Progression, Female, Immunosuppressive Agents, Adult, medicine.medical_specialty, Adolescent, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, Physiology (medical), Internal medicine, Myasthenia Gravis, medicine, Juvenile, Humans, Immunologic Factors, Autoantibodies, Retrospective Studies, Autoimmune disease, business.industry, Electromyography, medicine.disease, Myasthenia gravis, Cross-Sectional Studies, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::483eb5a0c705ac1506e77b0d1dc9097dTest
https://pubmed.ncbi.nlm.nih.gov/30734335Test

المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck

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

المؤلفون: Anna Kostera-Pruszczyk, Damian Gawel, Barbara Ryniewicz, Malgorzata Gawel, Marta Lipowska, Maria Jędrzejowska, Anna Lusakowska, Anna Kamińska

المصدر: Neuromuscular Disorders. 25:216-221

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Motor dysfunction, Adolescent, Action Potentials, Severity of Illness Index, Muscular Atrophy, Spinal, Young Adult, Physical medicine and rehabilitation, medicine, Humans, Motor unit number estimation, Child, Muscle, Skeletal, Genetics (clinical), Motor Neurons, Denervation, Electromyography, business.industry, Signal Processing, Computer-Assisted, Spinal muscular atrophy, Hand, medicine.disease, SMA, Motor unit, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, Lower motor neuron degeneration, Female, Neurology (clinical), Motor action, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d8bb5a88e188671aeea0fbe7da668c0Test
https://doi.org/10.1016/j.nmd.2014.11.012Test

المؤلفون: Alessandra Ferlini, David Salgado, Velina Guergueltcheva, Olivia Schreiber-Katz, Zaïda Koeks, Grace McMacken, Hugh Dawkins, Jan Kirschner, Angela Stringer, Vedrana Milic Rasic, Teodora Chamova, Sophelia H. S. Chan, Hanns Lochmüller, Lawrence Korngut, Jan J.G.M. Verschuuren, Maggie C. Walter, Clemens Bloetzer, Jordi Díaz-Manera, Veronika Karcagi, Nina Barišić, Tunca Oznur, Andriy V. Shatillo, Ann Martin, Rasha El Sherif, Yi Dai, Kyriaki Kekou, Jaana Lahdetie, Andrea Klein, Rosário Santos, Holly L. Peay, Haluk Topaloglu, Elena Neagu, Maria E. Foncuberta, Richard Roxburgh, Kevin M. Flanigan, Miriam Rodrigues, Kate Bushby, Farhad Bayat, Petr Brabec, Christophe Béroud, Catherine L. Bladen, Jen Wang, Matthew I. Bellgard, Venkatarman Viswanathan, Svetlana Artemieva, Anna Lusakowska, Konstantina Kosma, Manuel Posada, Agnes Herczegfalvi, Soledad Monges, Anna Kostera-Pruszczyk, Dina Vojinovic, Volker Straub, Anna J. Roy, En Kimura, Janneke C. van den Bergen, Filippo Buccella, Leanne Lamont, Erik W. van Zwet, Craig Campbell, Oksana Pogoryelova, Eduard Gallardo, Marta Garami, Ayşe Karaduman

المساهمون: Unión Europea. Comisión Europea. 6 Programa Marco, Unión Europea. Comisión Europea. 7 Programa Marco, Medical Research Council (Reino Unido), Department of Medical Statistics and Bioinformatics, Leiden University Medical Center (LUMC), Neuropaediatrics, Garrahan National Paediatric Hospital, Centre for Comparative Genomics, Murdoch University, Ctr Comparat Genom, Department of Neurology, Ludwig-Maximilians-Universität München (LMU)-Friedrich-Baur-Institute, Department of Reproduction and Growth, UOL of Medical Genetics (University Hospital St Anna, Ferrara), University of Ferrara at St. Anna Hospital, Medicina Pediátrica y del Desarrollo, Instituto de Investigación en Enfermedades Raras (IIER)-Instituto de Salud Carlos III [Madrid] (ISC), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Newcastle University [Newcastle], Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universiteit Leiden-Universiteit Leiden, Department of Biological and Environmental Engineering, Cornell University [New York], Università degli Studi di Ferrara = University of Ferrara (UniFE), Department of Embryology [Warsaw], Institute of Zoology [Warsaw], Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW)-Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW), Instituto de Salud Carlos III [Madrid] (ISC)-Instituto de Investigación en Enfermedades Raras (IIER), Fizyoterapi ve Rehabilitasyon

المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of Neuromuscular Diseases, 2017, 4 (4), pp.293-306. ⟨10.3233/JND-170280⟩
Journal of neuromuscular diseases, vol. 4, no. 4, pp. 293-306
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280 <http://dx.doi.org/10.3233/JND-170280Test>
Paediatrics Publications

مصطلحات موضوعية: 0301 basic medicine, Research Report, Male, Neurology, Duchenne muscular dystrophy, [SDV]Life Sciences [q-bio], Cardiomyopathy, Disease, computer.software_genre, 0302 clinical medicine, Adrenal Cortex Hormones, Child, ComputingMilieux_MISCELLANEOUS, education.field_of_study, Database, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, Neuromuscular diseases, Treatment Outcome, Databases as Topic, Child, Preschool, Cohort, DMD, TREAT-NMD, Neurology (clinical), musculoskeletal diseases, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Population, Socio-culturale, 610 Medicine & health, Adrenal Cortex Hormones/therapeutic use, Cross-Sectional Studies, Humans, Infant, Infant, Newborn, Muscular Dystrophy, Duchenne/epidemiology, Muscular Dystrophy, Duchenne/genetics, Muscular Dystrophy, Duchenne/therapy, Young Adult, 03 medical and health sciences, 360 Social problems & social services, medicine, education, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], business, computer, 030217 neurology & neurosurgery, Rare disease

وصف الملف: application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::649eb05eacc507eb3dd6be6b40bd7e5bTest
https://hdl.handle.net/20.500.12105/15573Test