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11
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 -
12
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 -
13
المؤلفون: K. Jozwik-Plebanek, Anna Kostera-Pruszczyk, Andrzej Tykarski, Piotr Dobrowolski, Katarzyna Michel-Rowicka, Krystyna Widecka, Małgorzata Szczerbo-Trojanowska, K. Hanus, Andrzej Januszewicz, P. Talarowska, Marcin Protasiewicz, Dariusz Gąsecki, Anna Członkowska, Elżbieta Florczak, Ilona Michałowska, Marta Sołtysiak, Aleksander Prejbisz, Piotr Szczudlik, Piotr Hoffman, Łukasz Światłowski, Magdalena Januszewicz, Łukasz Tekieli, Iwona Kurkowska-Jastrzębska, Łukasz Stryczyński, Anna Klisiewicz, Beata Błażejewska-Hyżorek, Piotr Odrowąż-Pieniążek, Ewa Warchoł-Celińska
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ambulatory blood pressure, Computed Tomography Angiography, Cervical Artery, Comorbidity, Fibromuscular dysplasia, Sex Factors, stomatognathic system, Risk Factors, Internal medicine, Hyperlipidemia, medicine, Fibromuscular Dysplasia, Humans, Whole Body Imaging, In patient, Prospective Studies, cardiovascular diseases, Vertebral Artery Dissection, business.industry, Incidence, Incidence (epidemiology), Blood Pressure Monitoring, Ambulatory, Middle Aged, medicine.disease, Dissection, Echocardiography, Hypertension, Cervical Vertebrae, cardiovascular system, Cardiology, Female, Poland, High incidence, Cardiology and Cardiovascular Medicine, business, circulatory and respiratory physiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5284e7cf9bed69b42945ffcd154f3f3Test
https://ruj.uj.edu.pl/xmlui/handle/item/255871Test -
14
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 -
15
المؤلفون: Ewa Zalewska, Elzbieta Szmidt-Salkowska, Malgorzata Gawel, Anna Kostera-Pruszczyk, Marta Lipowska, Anna Kamińska
المصدر: Journal of Electromyography and Kinesiology. 26:60-65
مصطلحات موضوعية: Adult, Male, Recruitment, Neurophysiological, 0301 basic medicine, medicine.medical_specialty, Biophysics, Neuroscience (miscellaneous), Action Potentials, Electromyography, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Abducens Nerve, medicine, Humans, Motor unit number estimation, Muscle Strength, Amyotrophic lateral sclerosis, Muscle, Skeletal, Abducens nerve, Aged, Aged, 80 and over, Motor Neurons, Denervation, medicine.diagnostic_test, Foot, business.industry, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Motor unit, 030104 developmental biology, medicine.anatomical_structure, Physical therapy, Muscle strength, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Reinnervation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d885bb1938455240b4d0d5ae5b440e78Test
https://doi.org/10.1016/j.jelekin.2015.11.001Test -
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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: Monika Nojszewska, Malgorzata Gawel, Elzbieta Szmidt-Salkowska, Anna Kostera-Pruszczyk, Biruta Kierdaszuk, Janusz Sierdziński, Andrzej Seroka, Anna Kamińska
المصدر: Journal of electromyography and kinesiology : official journal of the International Society of Electrophysiological Kinesiology. 39
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Motor unit action potential, Biophysics, Neuroscience (miscellaneous), Sporadic Inclusion Body Myositis, Action Potentials, Electromyography, ELECTROMYOGRAPHIC FINDINGS, Myositis, Inclusion Body, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, medicine, Humans, In patient, 030212 general & internal medicine, Muscle, Skeletal, Pathological, Aged, Retrospective Studies, Muscle biopsy, medicine.diagnostic_test, High amplitude, business.industry, Middle Aged, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a4cda540f94a31a5dc8ddba618b9feTest
https://pubmed.ncbi.nlm.nih.gov/29482084Test -
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المؤلفون: John Tzartos, Anastasios Tsonis, Kleopas A. Kleopa, Chantal M. E. Tallaksen, Dragana Lavrnic, Ivana Basta, Anthony Behin, Socrates J. Tzartos, Feza Deymeer, Stojan Peric, Mario Losen, C. Casasnovas Pons, Angelina H. Maniaol, Carlo Antozzi, Sonia Berrih-Aknin, Amelia Evoli, M. De Baets, F. Hanisch, E. Matsigkou, Renato Mantegazza, Tassos C. Kyriakides, Francesca Andreetta, Anna Kostera-Pruszczyk, Piotr Szczudlik, Güher Saruhan-Direskeneli, Konstantinos Lazaridis, Tarek Sharshar, Paraskevi Zisimopoulou, M. Jakubíkova, A. Vaknin, Hacer Durmus, Vasiliki Zouvelou, Eleni Zamba-Papanicolaou, Talma Brenner, Pilar Martinez-Martinez, Beata Szyluk, Jiri Pitha
المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience
المصدر: Journal of Neuroimmunology, 284, 10-17. Elsevier
Journal of Neuroimmunologyمصطلحات موضوعية: Adult, Male, International Cooperation, Immunology, Radioimmunoassay, Thymus Gland, Diagnosis, medicine, Immunology and Allergy, Humans, Receptors, Cholinergic, Cell based assay, Myasthenia gravis, LDL-Receptor Related Proteins, Acetylcholine receptor, Aged, MuSK, Autoantibodies, Neuromyelitis optica, biology, business.industry, Multiple sclerosis, Neuromyelitis Optica, Autoantibody, Receptor Protein-Tyrosine Kinases, Hyperplasia, Middle Aged, medicine.disease, Flow Cytometry, 3. Good health, Settore MED/26 - NEUROLOGIA, Neurology, biology.protein, Cell-based assay, Female, Neurology (clinical), Thymus Hyperplasia, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c566b9ba7e0928a801e300de6d24f7fTest
https://doi.org/10.1016/j.jneuroim.2015.04.015Test -
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المؤلفون: Małgorzata Dutkiewicz, Marta Lipowska, Ewa Sobieszczuk, Piotr Szczudlik, Beata Szyluk, Anna Kostera-Pruszczyk, Justyna Kubiszewska
المصدر: Neurologia i neurochirurgia polska. 52(3)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Thymoma, medicine.medical_treatment, Late onset, Enzyme-Linked Immunosorbent Assay, medicine.disease_cause, Gastroenterology, Autoimmunity, 03 medical and health sciences, 0302 clinical medicine, Disease severity, Internal medicine, Myasthenia Gravis, medicine, Humans, Age of Onset, Aged, Autoimmune disease, Interleukin-15, business.industry, Middle Aged, medicine.disease, Myasthenia gravis, 030104 developmental biology, Cytokine, Interleukin 15, Surgery, Female, Neurology (clinical), business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::036310ffc36995897126dfcc4d57b359Test
https://pubmed.ncbi.nlm.nih.gov/29699793Test -
20
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