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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 Genetمصطلحات 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 -
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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 -
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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 -
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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 Diseasesمصطلحات 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 -
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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 -
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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 muscleمصطلحات 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 -
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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
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Thymoma, Adolescent, medicine.medical_treatment, Enzyme-Linked Immunosorbent Assay, Late onset, Autoantigens, Gastroenterology, Young Adult, Internal medicine, Myasthenia Gravis, medicine, Humans, Connectin, Age of Onset, Child, Aged, Autoantibodies, Aged, 80 and over, Autoimmune disease, biology, business.industry, Immunosuppression, Histology, General Medicine, Middle Aged, medicine.disease, Myasthenia gravis, Neurology, Cohort, Immunology, biology.protein, Female, Neurology (clinical), Antibody, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8291b6fd292697be4a23196a8fdcf905Test
https://doi.org/10.1111/ane.12271Test -
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المؤلفون: A. Vaknin, Dragana Lavrnic, Eleni Zamba-Papanicolaou, Chantal M. E. Tallaksen, M. DeBaets, M. Frenkian Cuvelier, Stojan Peric, Talma Brenner, John Tzartos, Vasiliki Zouvelou, Beata Szyluk, Carlo Antozzi, Hacer Durmus, Piotr Szczudlik, Konstantinos Lazaridis, Francesca Andreetta, Paraskevi Zisimopoulou, T. Stojkovic, Socrates J. Tzartos, Angelina H. Maniaol, Sonia Berrih-Aknin, Renato Mantegazza, Anna Kostera-Pruszczyk, Feza Deymeer, Mario Losen, Pilar Martinez-Martinez, Panagiota Evangelakou, Kleopas A. Kleopa, Tassos C. Kyriakides, Amelia Evoli, Güher Saruhan-Direskeneli, Ivana Basta
المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience
المصدر: Journal of Autoimmunity; Vol 52
Journal of Autoimmunity, 52, 139-145. Elsevier Science
Journal of Autoimmunityمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Thymoma, Adolescent, International Cooperation, Immunology, LRP4, Thymus Gland, Autoantibodies Cell based assay, Young Adult, Sex Factors, Epidemiology, Diagnosis, Humans, Immunology and Allergy, Medicine, Receptors, Cholinergic, Serologic Tests, Age of Onset, Child, Myasthenia gravis, LDL-Receptor Related Proteins, Aged, Autoantibodies, Acetylcholine receptor, Hyperplasia, biology, business.industry, Infant, Newborn, Autoantibody, Infant, Receptor Protein-Tyrosine Kinases, Middle Aged, medicine.disease, 3. Good health, HEK293 Cells, Child, Preschool, Immunoglobulin G, Disease Progression, biology.protein, Female, Therapy, Antibody, business, Lipoprotein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc6fee35d6be5e7c6c4359d7e4c028eTest
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المؤلفون: Monika, Nojszewska, Malgorzata, Gawel, Elzbieta, Szmidt-Salkowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Lusakowska, Biruta, Kierdaszuk, Marta, Lipowska, Anna, Macias, Damian, Gawel, Andrzej, Seroka, Anna M, Kaminska
المصدر: Musclenerve. 56(3)
مصطلحات موضوعية: Adult, Male, Adolescent, Electromyography, Action Potentials, Infant, Middle Aged, Young Adult, Muscular Diseases, Child, Preschool, Humans, Female, Child, Muscle, Skeletal, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::984e3f253aa3bbed2c0a28db0c3c0498Test
https://pubmed.ncbi.nlm.nih.gov/28000226Test -
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المؤلفون: Shin J, Oh, Natalya, Shcherbakova, Anna, Kostera-Pruszczyk, Mohammad, Alsharabati, Mazen, Dimachkie, Jose Munoz, Blanco, Thomas, Brannagan, Dragana, Lavrnić, Perry B, Shieh, Christophe, Vial, Andreas, Meisel, Samuel, Komoly, Benedikt, Schoser, Kumaraswamy, Sivakumar, Yuen, So, Sujata P, Thawani
المصدر: Musclenerve. 53(5)
مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Middle Aged, Phosphates, Lambert-Eaton Myasthenic Syndrome, Young Adult, Treatment Outcome, Double-Blind Method, Potassium Channel Blockers, Humans, Female, Calcium Channels, Muscle Strength, 4-Aminopyridine, Amifampridine, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::114624099cd8b2f3b671af42889e5265Test
https://pubmed.ncbi.nlm.nih.gov/26852139Test