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1دورية أكاديمية
المؤلفون: Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgartner, Isabell Cordts, Astrid Eisenkölbl, Marina Flotats-Bastardas, Johannes Friese, René Günther, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jörg Jahnel, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Annette Schwerin-Nagel, Christof Reihle, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Regina Trollmann, Markus Weiler, Claudia Weiß, Gert Wiegand, Ekkehard Wilichowski, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner, SMArtCARE study group
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Spinal muscular atrophy, Nusinersen, Sitter, Later-onset, SMArtCARE, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Zheng Yie Yap, Yo Han Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee Yoon
المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
مصطلحات موضوعية: ATAD3A, Mitochondria, Disease, Autosomal recessive, Autophagy, Neurogenesis, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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3دورية أكاديمية
المؤلفون: Marie-Christine Reinert, David Pacheu-Grau, Claudia B. Catarino, Thomas Klopstock, Andreas Ohlenbusch, Michael Schittkowski, Ekkehard Wilichowski, Peter Rehling, Knut Brockmann
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Sulthiame, Carbonic anhydrase inhibitor, Adverse effects, Leber hereditary optic neuropathy, LHON, Oxygen consumption rate, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4دورية أكاديمية
المؤلفون: Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke, Martina Lange, Ekkehard Wilichowski, Joseph Pattathu, Friedrich Ebinger, Nicola Wiechmann, Rolf Schröder, on behalf of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
مصطلحات موضوعية: Duchenne muscular dystrophy, Cardiomyopathy, ACE-inhibitors, ß-blockers, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Rebecca A. Crow, Kimberly A. Hart, Michael P. McDermott, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy M. King, Michele Eagle, Mary W. Brown, Deborah Hirtz, Hanns Lochmuller, Volker Straub, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Anne-Marie Childs, Adnan Y. Manzur, Lucia Morandi, Russell J. Butterfield, Iain Horrocks, Helen Roper, Kevin M. Flanigan, Nancy L. Kuntz, Jean K. Mah, Leslie Morrison, Basil T. Darras, Maja von der Hagen, Ulrike Schara, Ekkehard Wilichowski, Tiziana Mongini, Craig M. McDonald, Giuseppe Vita, Richard J. Barohn, Richard S. Finkel, Matthew Wicklund, Hugh J. McMillan, Imelda Hughes, Elena Pegoraro, W. Bryan Burnette, James F. Howard, Mathula Thangarajh, Craig Campbell, Robert C. Griggs, Kate Bushby, Michela Guglieri
المصدر: Trials, Vol 19, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: Clinical trial, Academic-led clinical trial, Clinical trial regulations, Duchenne muscular dystrophy, Rare disease, Medicine (General), R5-920
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Anja Brinckmann, Claudia Weiss, Friederike Wilbert, Arpad von Moers, Angelika Zwirner, Gisela Stoltenburg-Didinger, Ekkehard Wilichowski, Markus Schuelke
المصدر: PLoS ONE, Vol 5, Iss 10, p e13513 (2010)
وصف الملف: electronic resource
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المؤلفون: Adam C. Gunning, Shlomit Ezer, Johannes A. Mayr, Ekkehard Wilichowski, Hong Li, Kristin G. Monaghan, Dominik S. Westphal, Emily Black, Yo Han Park, Kate Wilson, Sukyeong Lee, James R. Lupski, Matias Wagner, Saskia B. Wortmann, Usha Kini, Zheng Yie Yap, Tamar Harel, Lita Duraine, Wan Hee Yoon, Sian Ellard
المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Genome Med. 13:55 (2021)
Genome Medicineمصطلحات موضوعية: Male, Autosomal recessive, AAA+ protein, QH426-470, ATAD3A, 0302 clinical medicine, Missense mutation, Disease, Copy-number variation, Genetics (clinical), Exome sequencing, Neurons, Genetics, 0303 health sciences, Mitophagy, Phenotype, Pedigree, ddc, Mitochondria, Molecular Medicine, Medicine, Drosophila, Female, Locomotion, Aaa+ Protein, Atad3a, Autophagy, Autosomal Recessive, Neurogenesis, Mitochondrial DNA, Adolescent, Mutation, Missense, Biology, Polymorphism, Single Nucleotide, Mitochondrial Proteins, Young Adult, 03 medical and health sciences, Animals, Humans, Computer Simulation, Amino Acid Sequence, Allele, Indel, Molecular Biology, Alleles, 030304 developmental biology, Research, Infant, Newborn, Genetic Variation, Infant, Membrane Proteins, Human genetics, ATPases Associated with Diverse Cellular Activities, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d9b9000c75b98d9625dc74a3099fa9
https://doaj.org/article/0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7 -
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المؤلفون: Thomas Klopstock, Marie-Christine Reinert, Ekkehard Wilichowski, Andreas Ohlenbusch, David Pacheu Grau, Claudia B. Catarino, Knut Brockmann, Peter Rehling, M. P. Schittkowski
المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
مصطلحات موضوعية: Pathology, medicine.medical_specialty, LEBER HEREDITARY OPTIC NEUROPATHY, business.industry, Medicine, business, In vitro, Function (biology), 3. Good health
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aa1b255762be8d59071d2ed528edb150
https://doi.org/10.1055/s-0041-1739682 -
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المؤلفون: Susann Kummer, Ekkehard Wilichowski
المصدر: Mitochondrion. 43:37-42
مصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial DNA, Biopsy, Mitochondrial disease, Cell, Kearns-Sayre Syndrome, Laser Capture Microdissection, Mitochondrion, Biology, Real-Time Polymerase Chain Reaction, DNA, Mitochondrial, Genome, Kearns–Sayre syndrome, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Molecular Biology, Microdissection, Sequence Deletion, Skin, Laser capture microdissection, Genetic Variation, Infant, Cell Biology, Fibroblasts, medicine.disease, Molecular biology, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Molecular Medicine, Female, Single-Cell Analysis, Multiplex Polymerase Chain Reaction, 030217 neurology & neurosurgery
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المؤلفون: Anna Sarkozy, Erik-Jan Kamsteeg, Mark Pfuhl, Nicol C. Voermans, Martin Rees, Corrie E. Erasmus, Hülya-Sevcan Daimagüler, Steven A. Moore, Rahul Phadke, Mark R. Holt, Rolf Schröder, Istvan Bodi, Carla Grosmann, Sebahattin Cirak, E. Matthews, Ay Lin Kho, Peter Van den Bergh, Christian Thiel, Shane McKee, Joel Victor Fluss, Roksana Nikoopour, Charu Deshpande, Jens Reimann, Emily C. Oates, Maria Elena Farrugia, Özkan Özdemir, Isabelle Richard, Cristina Domínguez-González, Chaminda Konersman, Ekkehard Wilichowski, Birgit Brandmeier, Atsushi Fukuzawa, Ana Ferreiro, Heinz Jungbluth, Ros Quinlivan, Sandya Tirupathi, Mathias Gautel, Gabriele Dekomien, Cheryl Longman, Miguel A Fernandez-Garcia, Francesco Muntoni, Michael G. Hanna, Elizabeth Wraige, Elke Hobbiebrunken, Sarah Grover
المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, King‘s College London, Evelina London Children's Hospital, Guy's Hospital [London], University of Cologne, Children’s University Hospital of Geneva [Switzerland], Queen Elizabeth University Hospital (Glasgow), National Hospital for Neurology and Neurosurgery [London, UK], Great Ormond Street Hospital for Children [London] (GOSH), University College of London [London] (UCL), University of New South Wales [Sydney] (UNSW), Westmead Hospital [Sydney], University Hospital Erlangen [Germany], Universitätsklinikum Erlangen [Erlangen], University of Bonn Medical Centre [Bonn], Radboud university [Nijmegen], Rady Children's Hospital, Belfast City Hospital, Royal Belfast Hospital for Sick Children, University of Iowa [Iowa City], University of Göttingen - Georg-August-Universität Göttingen, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Généthon, Saint-Luc University Hospital [Brussels, Belgium], Hospital Universitario 12 de Octubre [Madrid], Université de Paris (UP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), King's College Hospital (KCH), MRC Centre for Neuromuscular Diseases [London, UK], University Hospital Erlangen = Uniklinikum Erlangen, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Gillette Children's Specialty Healthcare [St Paul], Georg-August-University = Georg-August-Universität Göttingen, Ruhr-Universität Bochum [Bochum], Université Paris Cité (UPCité), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)
المصدر: Acta Neuropathologica, 141, 431-453
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Adolescent, Myotonia Congenita, Mutation, Missense, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Extraocular muscles, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Medicine, Missense mutation, Connectin, Child, Myopathy, Aged, Muscle contracture, Genetics, Phenocopy, Original Paper, biology, business.industry, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Congenital myopathy, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, biology.protein, Female, Titin, Neurology (clinical), medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
وصف الملف: application/pdf