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: 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: 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

المؤلفون: Carsten G. Bönnemann, Maria JȨdrzejowska, Anna Kostera-Pruszczyk, Anna Kamińska, Akanchha Kesari, Ying Hu, Jaya Punetha, Eric P. Hoffman, Monika Gos, Yaqun Zou, Irena Hausmanowa-Petrusewicz

المصدر: Muscle & Nerve. 55:277-281

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Physiology, Ullrich congenital muscular dystrophy, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Collagen VI, Physiology (medical), Internal medicine, medicine, Missense mutation, Myopathy, business.industry, Bethlem myopathy, Overlap syndrome, medicine.disease, Congenital myopathy, Hypotonia, 030104 developmental biology, Endocrinology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::526c9a95fb52c57a11be7c04f5fca819Test
https://doi.org/10.1002/mus.25232Test

المؤلفون: Anna Kamińska, Agnieszka Dramińska, Aleksey Shatunov, Bertrand Goudeau, Lev G. Goldfarb, Kazuyo Takeda, Nyamkhishig Sambuughin, Anna Kostera-Pruszczyk, Patrick Vicart, Sergei V. Strelkov, Piotr Pruszczyk

المصدر: International Journal of Cardiology. 117:244-253

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Cardiomyopathy, macromolecular substances, Transfection, medicine.disease_cause, Cell Line, Desmin, Myoblasts, Mice, Internal medicine, medicine, Animals, Humans, Point Mutation, Myopathy, Intermediate filament, Family Health, Heart Failure, Cardiomyopathy, Restrictive, Mutation, Crystallography, business.industry, Point mutation, Restrictive cardiomyopathy, Dilated cardiomyopathy, Middle Aged, musculoskeletal system, medicine.disease, Pedigree, Heart Block, Cardiology, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f820e4b8583f139758af5609cd9039Test
https://doi.org/10.1016/j.ijcard.2006.05.019Test

المؤلفون: B. Emeryk-Szajewska, A. Karwańska, Katarzyna Rowińska-Marcińska, Anna Kostera-Pruszczyk, Irena Niebroj-Dobosz

المصدر: Acta Neurologica Scandinavica. 106:34-38

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, business.industry, Glutamate receptor, General Medicine, medicine.disease, Inhibitory postsynaptic potential, Amino acid, Fasciculation, Motor unit, Electrophysiology, Endocrinology, Neurology, chemistry, Internal medicine, Excitatory postsynaptic potential, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, medicine.symptom, business, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0181a9115e203b1c3f3a7450e5dc19c0Test
https://doi.org/10.1034/j.1600-0404.2002.00149.xTest

المؤلفون: Anna Kostera-Pruszczyk, Hubert Kwieciński

المصدر: Journal of Neurology. 256:1780-1781

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Exacerbation, medicine.medical_treatment, Azathioprine, Gastroenterology, Ptosis, Prednisone, Internal medicine, Myasthenia Gravis, medicine, Humans, Receptors, Cholinergic, Autoantibodies, Acetylcholine receptor, Diplopia, business.industry, Receptor Protein-Tyrosine Kinases, Thymectomy, medicine.disease, Myasthenia gravis, Treatment Outcome, Neurology, Immunology, Female, Neurology (clinical), medicine.symptom, business, Follow-Up Studies, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e70b8ead12cc642c936bba103aa8c98fTest
https://doi.org/10.1007/s00415-009-5215-2Test