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المصدر: International Journal of Pediatrics and Adolescent Medicine, Vol 8, Iss 2, Pp 121-124 (2021)
International Journal of Pediatrics & Adolescent Medicineمصطلحات موضوعية: BP, blood pressure, Tachycardia, Pediatrics, medicine.medical_specialty, 050402 sociology, Neuropathic pain, ABPM, ambulatory blood pressure monitoring, and AN, autonomic neuropathy, Acute autonomic neuropathy, RJ1-570, BP - Blood pressure, 03 medical and health sciences, 0302 clinical medicine, 0504 sociology, 030225 pediatrics, medicine, Burning Pain, Eeg electroencephalography, HR, heart rate, business.industry, CT, computer tomography, 05 social sciences, AAN, acute autonomic neuropathy, ACEI, angiotensin converting enzyme inhibitor, Blood pressure, Hypertension, Pediatrics, Perinatology and Child Health, Original Article, ECG, electrocardiogram, medicine.symptom, Autonomic neuropathy, business, MRI, magnetic resonance imaging, EEG, electroencephalography, Pediatric cardiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0656c7ff2bf9bf5c5799db49df0481b5Test
https://doi.org/10.1016/j.ijpam.2020.06.006Test -
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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: Anna Kostera-Pruszczyk, Malgorzata Gawel, Ewa Zalewska, Anna Lusakowska, Anna Kamińska, Elzbieta Szmidt-Salkowska, Marta Lipowska
المصدر: Journal of Electromyography and Kinesiology. 46:35-40
مصطلحات موضوعية: Male, medicine.medical_specialty, Weakness, Motor dysfunction, Needle emg, Biophysics, Neuroscience (miscellaneous), Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Physical medicine and rehabilitation, Post-polio syndrome, Humans, Medicine, Muscle, Skeletal, Aged, Motor Neurons, Electromyography, business.industry, Motor unit number, 030229 sport sciences, Middle Aged, medicine.disease, Motor unit, Needles, Biomarker (medicine), Female, Postpoliomyelitis Syndrome, Neurology (clinical), medicine.symptom, business, Biomarkers, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd6fbb82cf4b80096e16b47057b8cc9Test
https://doi.org/10.1016/j.jelekin.2019.03.006Test -
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المؤلفون: Herta Zellner, Melanie A. Manning, Holger Prokisch, Natalia Gomez-Ospina, Georg F. Hoffmann, Johannes A. Mayr, Mirjana Gusic, Lucia Laugwitz, Susanne Morlot, Claudia Krahn-Peper, Thomas Meitinger, Andreas Wroblewski, Michaela Röblitz, Elisabeth Graf, Riccardo Berutti, Eva Bültmann, Tim M. Strom, Dorota Piekutowska-Abramczuk, Penelope E. Bonnen, René G. Feichtinger, Edda Haberlandt, Christine Makowski, Manting Xu, Ulrich A. Schatz, Anibh M. Das, Steffen Syrbe, Katharina Danhauser, Daniela Karall, Anna Kostera-Pruszczyk, Hans Hartmann, Tobias B. Haack, Rafał Płoski, Fang Fang, Maciej Pronicki, Bader Alhaddad, Reka Kovacs-Nagy
المصدر: The American Journal of Human Genetics. 103:817-825
مصطلحات موضوعية: Male, 0301 basic medicine, Ataxia, Adolescent, Cerebellar Ataxia, Glycoside Hydrolases, Developmental Disabilities, Biology, Nervous System Malformations, 03 medical and health sciences, ADP-Ribosylation, 0302 clinical medicine, PARP1, Report, Genetics, medicine, Humans, Exome, Viability assay, Allele, Child, Alleles, Genetics (clinical), Exome sequencing, Adenosine Diphosphate Ribose, Messenger RNA, Neurodegeneration, Infant, Neurodegenerative Diseases, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, Cancer research, Female, NAD+ kinase, medicine.symptom, Protein Processing, Post-Translational, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69de748641d7361a0dc57201bc80a18cTest
https://doi.org/10.1016/j.ajhg.2018.10.005Test -
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المصدر: Neuromuscular Disorders. 25:661-666
مصطلحات موضوعية: Male, Physical examination, Ubiquitin-Activating Enzymes, Fractures, Bone, Tongue, medicine, Humans, Genetics (clinical), Arthrogryposis, medicine.diagnostic_test, business.industry, Infant, Newborn, Facial weakness, Muscle weakness, Genetic Diseases, X-Linked, UBA1, Anatomy, Spinal muscular atrophy, medicine.disease, Hypotonia, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fed047523e52d62ba61f9809885cc8eTest
https://doi.org/10.1016/j.nmd.2015.05.001Test -
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المؤلفون: Anna Kostera-Pruszczyk, Anna Lusakowska, Marta Lipowska, Malgorzata Gawel, Ewa Zalewska, Elzbieta Szmidt-Salkowska
المصدر: Clinical Neurophysiology. 128:e289
مصطلحات موضوعية: medicine.medical_specialty, Weakness, medicine.diagnostic_test, business.industry, Muscle weakness, Electromyography, medicine.disease, Biceps, Sensory Systems, Motor unit, Manual Muscle Testing, Physical medicine and rehabilitation, Atrophy, Neurology, Post-polio syndrome, Physiology (medical), Physical therapy, Medicine, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ed93fe981c5253064bf2917623152f05Test
https://doi.org/10.1016/j.clinph.2017.07.350Test -
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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 -
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المؤلفون: Anna Fidziańska, Pascal Richard, Ana Ferreiro, Bertrand Goudeau, Stéphanie Simon, Anna Kostera-Pruszczyk, Patrick Vicart
المصدر: Neuromuscular Disorders. 16:759-762
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Muscle Proteins, Biology, Cataract, Desmin, LMNA, Myofibrils, medicine, Humans, Myotilin, Connectin, Child, Muscle, Skeletal, Selenoproteins, Myopathy, Genetics (clinical), Hyaline, Genetics, Microfilament Proteins, alpha-Crystallin B Chain, Skeletal muscle, Lamin Type A, musculoskeletal system, medicine.disease, Congenital myopathy, Cytoskeletal Proteins, Polydactyly, Phenotype, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Syndactyly, sense organs, Neurology (clinical), medicine.symptom, Dystrophin, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af0b5eaf2e7c7ec88d17067d2a22d51Test
https://doi.org/10.1016/j.nmd.2006.07.025Test -
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المؤلفون: Maria Jędrzejowska, Monika Gos, Anna Kamińska, Eric P. Hoffman, Jaya Punetha, Carsten G. Bönnemann, Yaqun Zou, Anna Kostera-Pruszczyk, Ying Hu, Akanchha Kesari
المصدر: Neuromuscular Disorders. 26:S189
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Collagen xii, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, Myopathy, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f2b6de4f532193c3557695212c092755Test
https://doi.org/10.1016/j.nmd.2016.06.373Test -
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المؤلفون: Monika Nojszewska, Anna Kostera-Pruszczyk, Ewa Bartnik, Magdalena Kaliszewska, Anna Kamińska, Marek Gołębiowski, Katarzyna Tońska, Edyta Maj, T. Mazurczak
المصدر: Neuromuscular Disorders. 23:830
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, medicine.diagnostic_test, business.industry, Cauda equina, Magnetic resonance imaging, medicine.disease, Surgery, Dysarthria, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Nerve conduction study, Medicine, Neurology (clinical), Ataxic Gait, medicine.symptom, business, Myoclonus, Polyneuropathy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e598e8de9c652d6cdbd3bc41dee3f3dTest
https://doi.org/10.1016/j.nmd.2013.06.663Test