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 Genet

مصطلحات 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

المؤلفون: Krzysztof Milczarek, Olgierd Rowiński, Anna Kostera-Pruszczyk, Anna Fraczek, Dariusz Konecki, Anna Lusakowska, Grzegorz Rosiak

المصدر: Neuroradiology

مصطلحات موضوعية: Adult, medicine.medical_specialty, Neurology, Oligonucleotides, Radiation Dosage, 030218 nuclear medicine & medical imaging, CT-guided injections, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Spinal Neuroradiology, Nusinersen, medicine, Humans, Radiology, Nuclear Medicine and imaging, SMA, Child, Injections, Spinal, Neuroradiology, Retrospective Studies, medicine.diagnostic_test, Lumbar puncture, business.industry, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, Scoliosis, Neurology (clinical), Neurosurgery, Cardiology and Cardiovascular Medicine, Nuclear medicine, business, Tomography, X-Ray Computed, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65e41de75f0072ffe3d5747fe2fd1eecTest
http://europepmc.org/articles/PMC7965851Test

المؤلفون: Eugenio Mercuri, Jean K. Mah, C. Tian, Hoda Abdel-Hamid, Craig M. McDonald, Craig Campbell, J. Statland, Michael Binks, Alesia Sadosky, Lawrence Charnas, Jeffrey P. Palmer, Michela Guglieri, Brenda L. Wong, Francesco Muntoni, Yasuhiro Takeshima, Kathryn R. Wagner, Sarah P. Sherlock, Shannon Marraffino, Anna Kostera-Pruszczyk, Enrico Bertini, Peter I. Karachunski, Russell J. Butterfield, Vivek S. Purohit, Chiara Fiorillo

المصدر: Paediatrics Publications

مصطلحات موضوعية: Male, Duchenne muscular dystrophy, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Antibodies, Monoclonal, Humanized, 03 medical and health sciences, 0302 clinical medicine, Outcome Assessment, Health Care, medicine, Humans, In patient, Treatment Failure, Child, Genetics (clinical), business.industry, Myostatin, medicine.disease, Muscular Dystrophy, Duchenne, myostatin inhibitor, 030104 developmental biology, Neurology, 4-stair climb, Pediatrics, Perinatology and Child Health, Ambulatory, Exercise Test, Neurology (clinical), Open label, domagrozumab, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3cbadea127d4ce51f63126e99cb373Test
https://doi.org/10.1016/j.nmd.2020.05.002Test

المؤلفون: Anna Frączek, Jerzy Słowiński, Joanna Jędrzejczak, Marcin Roszkowski, Krystyna Szymańska, Łukasz Napiórkowski, Anna Kostera-Pruszczyk, Barbara Więckowska, Danuta Ryglewicz

المصدر: Neurologia i neurochirurgia polska. 55(5)

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, education.field_of_study, business.industry, Incidence (epidemiology), Incidence, Population, Disease, Scoliosis, medicine.disease, SMA, Respiration, Artificial, Muscular Atrophy, Spinal, Epidemiology, Health care, medicine, Humans, Surgery, Nusinersen, Neurology (clinical), Poland, business, education, Child, Delivery of Health Care

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::941e58386b2bc8ceed8b3cedc4592ed2Test
https://pubmed.ncbi.nlm.nih.gov/34664710Test

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

المؤلفون: Bartłomiej Gielniewski, Robert Szymańczak, Agnieszka Madej-Pilarczyk, Anna Potulska-Chromik, Tomasz Gambin, Krystyna H. Chrzanowska, Maria Jędrzejowska, Agnieszka Sobczyńska, Edyta Rosiak, Anna Kostera-Pruszczyk, Agnieszka Stępień, Emilia Dębek, Bartosz Wojtaś, Elżbieta Ciara, Monika Gos

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 32

مصطلحات موضوعية: Proband, Male, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Laminopathy, Muscular Dystrophies, LMNA, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Floppy Infant, Child, Exome, business.industry, Muscle weakness, General Medicine, medicine.disease, Lamin Type A, Magnetic Resonance Imaging, Hypotonia, Pedigree, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Congenital muscular dystrophy, Muscle Hypotonia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b6ed1c515776dfb9847fc44edc4a95Test
https://pubmed.ncbi.nlm.nih.gov/33940562Test

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: 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