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

Relation: http://www.sciencedirect.com/science/article/pii/S2329050120300826; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/a9485f849aa14c759c9733815ca3f66a

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b4e39bba10ec1b3d1194ec089db6bcac
https://doi.org/10.1007/s00115-022-01295-1

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

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

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

Relation: https://doaj.org/toc/2157-6998; https://doaj.org/toc/2157-7005

URL الوصول: https://doaj.org/article/57fffbb13c0e4188bd8e7a6823a926a7

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 LTD

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::575f77fed85a047101751fd1582bb226
https://doi.org/10.1016/j.nmd.2020.08.357

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d0d9624693c84eb7bb90f31dd7d66e77
https://pubmed.ncbi.nlm.nih.gov/35522309

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbb3f1627dca413773730a508656ed46
https://pubmed.ncbi.nlm.nih.gov/34791888

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::09cc9ca37d56e1ef9bc90d248722c356
https://doi.org/10.1016/j.nmd.2022.07.051

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)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e92faac7959eb5125295448a18c52a16
https://doi.org/10.1016/j.nmd.2022.07.142

المؤلفون: S. McDonald, J. Bullivant, A. Lennox, A. den Hollander, C. Saegert, O. Lynch, D. Moat, R. Graham, U. Schara-Schmidt, C. Bönnemann, H. Jungbluth, A. Buj-Bello, J. Dowling, C. Marini-Bettolo

المصدر: Neuromuscular Disorders. 32:S45

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::de97e27a02da1f07bbb46fb705c5fb21
https://doi.org/10.1016/j.nmd.2022.07.018

المؤلفون: D. Schorling, H. Kölbel, A. Hentschel, A. Pechmann, N. Meyer, B. Wirth, R. Rombo, A. SMArtCARE Consortium, A. Sickmann, J. Kirschner, U. Schara-Schmidt, H. Lochmüller, A. Roos

المصدر: Neuromuscular Disorders. 32:S64

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2d95c84cbb32b6b21e47e7da45dda552
https://doi.org/10.1016/j.nmd.2022.07.097

المؤلفون: C. Preuße, T. Ruck, D. Cengiz, A. von Moers, A. Hentschel, H. Lochmüller, U. Schara-Schmidt, A. Sickmann, A. Gangfuß, A. Förster, S. Meuth, H.-H. Goebel, W. Stenzel, A. Roos

المصدر: Neuromuscular Disorders. 31:S96

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::499b2e93449061eb67f6b4228ce99a4c
https://doi.org/10.1016/j.nmd.2021.07.181

المؤلفون: A. Hentschel, O. Pogoryelova, A. Sickmann, U. Schara, H. Lochmüller, A. Roos

المصدر: Neuromuscular Disorders. 30:S50-S51

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::27cdcc86def2b424683aeb1949382ba1
https://doi.org/10.1016/j.nmd.2020.08.017

المؤلفون: U Schara

المصدر: Nervenheilkunde.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a39af4169781197d60b5c77c3f5aaca8
https://doi.org/10.1055/s-0039-1684993

المؤلفون: U Schara

المصدر: Nervenheilkunde.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6747ec4493b1462f45999c393f21129a
https://doi.org/10.1055/s-0039-1684982

المؤلفون: Sze Choong Wong, Volker Straub, Leanne M. Ward, Ros Quinlivan, J. Adachi, S.F. Ahmed, M.C. Anderton, F. Broggi, N.J. Crabtree, I.J.M. de Groot, P. Furlong, M. Guglieri, S. Joseph, R. Keen, J. Kuijer, A. Klein, M.Z. Mughal, E.H. Niks, S.A. Novotny, R. Quinlivan, S.J. Roberts, U. Schara, V. Straub, A. Stringer, F. Van Ieperen, L.M. Ward, D.R. Weber, S.C. Wong, E. Vroom, M. Zacharin

المساهمون: Schara, U (Beitragende*r)

المصدر: Neuromuscular Disorders, 29(3), 251-259

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, Medizin, MEDLINE, medicine.disease, Clinical trial, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Neurology (clinical), Muscular dystrophy, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a457f78d66848bfd05efffc8d332cf2
http://hdl.handle.net/1887/121424

المؤلفون: A. Pechmann, G. Bernert, T. Hagenacker, W. Müller-Felber, U. Schara, I. Schwersenz, M. Walter, H. Lochmüller, J. Kirschner

المصدر: Neuromuscular Disorders. 30:S97

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::befad6cf7602133421cac7e4705f12b0
https://doi.org/10.1016/j.nmd.2020.08.174

المؤلفون: U. Schara, S. Lutz

المصدر: Pädiatrie ISBN: 9783642546716

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8afde92a678a4329d51bb8238bb4968c
https://doi.org/10.1007/978-3-642-54671-6_273-2

المؤلفون: U, Schara, G R, Fink, A, von Moers

المصدر: Der Nervenarzt. 89(10)

مصطلحات موضوعية: Muscular Dystrophy, Duchenne, Transition to Adult Care, Neurology, Quality of Life, Humans, Neuromuscular Diseases, Delivery of Health Care, Pediatrics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::73c383890d24152fb0c1f5ff3965887f
https://pubmed.ncbi.nlm.nih.gov/30120487