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1دورية أكاديميةMyostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
المؤلفون: Catherine Koch, Suzie Buono, Alexia Menuet, Anne Robé, Sarah Djeddi, Christine Kretz, Raquel Gomez-Oca, Marion Depla, Arnaud Monseur, Leen Thielemans, Laurent Servais, Jocelyn Laporte, Belinda S. Cowling, Mélanie Annoussamy, Andreea Seferian, Jonathan Baets, Nicole Voermans, Antony Behin, U. Schara, Adele D’Amico, Arturo Hernandez, Capucine de Lattre, Jean-Michel Arnal, Michèle Mayer, Jean-Marie Cuisset, Carole Vuillerot, Stéphanie Fontaine, Rémy Bellance
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1178-1189 (2020)
مصطلحات موضوعية: centronuclear myopathies, myotubular myopathy, dynamin, antisense oligonucleotides, therapy, GDF8, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050120300826Test; https://doaj.org/toc/2329-0501Test
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2دورية أكاديمية
المؤلفون: M. Wiesweg, S. Aydin, A. Koeninger, A. Stein, U. Schara, C. van Roye, J. Hense, A. Welt, M. Schuler
المصدر: American Journal of Perinatology Reports, Vol 4, Iss 01, Pp 017-022 (2014)
مصطلحات موضوعية: gemcitabine, pregnancy, adenocarcinoma, cholangiocarcinoma, chemotherapy, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
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3
المؤلفون: T. Hagenacker, U. Schara-Schmidt, C. Kleinschnitz
المصدر: Der Nervenarzt. 93:549-556
مصطلحات موضوعية: Psychiatry and Mental health, Neurology, Neurology (clinical), General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b4e39bba10ec1b3d1194ec089db6bcacTest
https://doi.org/10.1007/s00115-022-01295-1Test -
4دورية أكاديمية
المؤلفون: McDonald, C., Servais, L., Munell, F., Schmidt, U. Schara, Bettini, E., Comi, G., Blaschek, A., Johannsen, J., Cazzaniga, S., Bettica, P., Vandenborne, K., Mercuri, E.
المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p
مصطلحات موضوعية: DUCHENNE muscular dystrophy, HISTONE deacetylase inhibitors, PATIENT experience, NATURAL history, DISEASE progression
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5دورية أكاديمية
المؤلفون: Mercuri, E., Brogna, C., Mah, J. K., Goemans, N., Niks, E., Müller-Felber, W., Blaschek, A., Schmidt, U. Schara, Johannsen, J., Cazzaniga, S., Bettica, P., McDonald, C.
المصدر: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p
مصطلحات موضوعية: PHYSICAL mobility, DUCHENNE muscular dystrophy, HISTONE deacetylase inhibitors, MUSCLE strength
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6
المؤلفون: T, Hagenacker, U, Schara-Schmidt, C, Kleinschnitz
المصدر: Der NervenarztLiteratur. 93(6)
مصطلحات موضوعية: Adult, Muscular Atrophy, Spinal, Phenotype, Infant, Newborn, Oligonucleotides, Humans, Gait, Risk Assessment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d0d9624693c84eb7bb90f31dd7d66e77Test
https://pubmed.ncbi.nlm.nih.gov/35522309Test -
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المؤلفون: Jos G.M. Hendriksen, Mathula Thangarajh, Hermien E. Kan, Francesco Muntoni, Dr. Y. Aoki, Dr P. Collin, Dr M. Colvin, Dr N. Doorenweerd, Prof A. Ferlini, Dr A. Goyenvalle, Dr J.J. Hendriksen, Dr J. Hoskin, Dr H.E. Kan, Mr F. Lamy, Dr K. Maresh, Prof F. Muntoni, Dr E.H. Niks, Prof U. Schara, Prof D. Skuse, Prof V. Straub, Prof S. Takeda, Dr M. Thangarajh, Dr N. Truba, Prof S. Tyagarajan, Dr C. Vaillend, Dr M. van Putten, Prof J. Vissing, E. Vroom
المساهمون: Institut des Neurosciences Paris-Saclay (NeuroPSI), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), European Neuromuscular Centre (ENMC) and ENMC main sponsors
المصدر: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2020, 30 (9), pp.782-794. ⟨10.1016/j.nmd.2020.08.357⟩
Neuromuscular Disorders, 30(9), 782-794. PERGAMON-ELSEVIER SCIENCE LTDمصطلحات موضوعية: Duchenne muscular dystrophy, musculoskeletal diseases, 0301 basic medicine, medicine.medical_specialty, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Translational research, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Dystrophin, 03 medical and health sciences, Cognition, 0302 clinical medicine, Physical medicine and rehabilitation, Medicine, Clinical care, Muscular dystrophy, Genetics (clinical), Behavior, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, biology, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology, Central nervous system, Becker muscular dystrophy, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::575f77fed85a047101751fd1582bb226Test
https://doi.org/10.1016/j.nmd.2020.08.357Test -
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المؤلفون: Craig M McDonald, Francesco Muntoni, Vinay Penematsa, Joel Jiang, Allan Kristensen, Francesco Bibbiani, Elizabeth Goodwin, Heather Gordish-Dressman, Lauren Morgenroth, Christian Werner, James Li, Richard Able, Panayiota Trifillis, Már Tulinius, M Ryan, K Jones, N Goemans, C Campbell, JK Mah, K Selby, B Chabrol, Y Pereon, T Voit, T Gidaro, U Schara, JB Kirschner, Y Nevo, GP Comi, E Bertini, E Mercuri, J Colomer, A Nascimento, JJ Vilchez, M Tulinius, T Sejersen, F Muntoni, K Bushby, M Guglieri
المصدر: Journal of Comparative Effectiveness Research
مصطلحات موضوعية: medicine.medical_specialty, Vital capacity, nonsense mutation Duchenne muscular dystrophy, Duchenne muscular dystrophy, Nonsense mutation, efficacy, Walking, dystrophin, chemistry.chemical_compound, respiratory function, Internal medicine, loss of ambulation, medicine, Humans, Respiratory function, Respiratory system, Oxadiazoles, business.industry, Health Policy, ataluren, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, chemistry, Codon, Nonsense, Propensity score matching, Ambulatory, Study 019, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbb3f1627dca413773730a508656ed46Test
https://pubmed.ncbi.nlm.nih.gov/34791888Test -
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المؤلفون: A. Gangfuss, K. Neuhoff, A. Hentschel, N. Kohlschmidt, H. Koelbel, U. Schara Schmidt, A. Roos
المصدر: Neuromuscular Disorders. 32:S53
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::09cc9ca37d56e1ef9bc90d248722c356Test
https://doi.org/10.1016/j.nmd.2022.07.051Test -
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المؤلفون: N. Meyer, N. Kohlschmidt, H. Lochmüller, U. Schara, L. Hannappel, A. Grüneboom, A. Schänzer, A. Hentschel, A. Gangfuss, A. Roos
المصدر: Neuromuscular Disorders. 32:S76
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e92faac7959eb5125295448a18c52a16Test
https://doi.org/10.1016/j.nmd.2022.07.142Test