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المؤلفون: Pauline Bennett, Martin Rees, Sarah Grover, Atsushi Fukuzawa, Alexander Alexandrovich, Roberto Steiner, Mathias Gautel
المصدر: Biophysical Journal. 122:28a-29a
مصطلحات موضوعية: Biophysics
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المؤلفون: Atsushi Fukuzawa, Mathias Gautel, Martin Rees, Sarah Grover, Daniel Koch
المصدر: Human Molecular Genetics
مصطلحات موضوعية: AcademicSubjects/SCI01140, Sarcomeres, Protein Conformation, Obscurin, 030204 cardiovascular system & hematology, Biology, Protein Serine-Threonine Kinases, Sarcomere, Protein–protein interaction, 03 medical and health sciences, Mice, 0302 clinical medicine, Genetics, Animals, Humans, Connectin, Protein Interaction Maps, Muscle, Skeletal, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Protein Stability, Calcium-Binding Proteins, General Medicine, Cardiomyopathy, Hypertrophic, Phenotype, Phospholamban, Cell biology, Transmembrane domain, Sarcoplasmic Reticulum, biology.protein, Titin, General Article, Titin binding, Rho Guanine Nucleotide Exchange Factors, Protein Binding, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8235c7c256d72240a3ba5909672d0f3b
http://europepmc.org/articles/PMC8188405 -
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المؤلفون: Ian D. Wilson, Francesca Cirulli, Karsten Siems, Alessandra Berry, Jacob G. Bundy, Elizabeth J. Want, Yufeng Li, Sarah Grover, Virag Sagi-Kiss, Chiara Musillo, Matthew Carey
مصطلحات موضوعية: Ampelopsin, chemistry.chemical_compound, Chromatography, Metabolomics, chemistry, Liquid chromatography–mass spectrometry, Metabolite, Metabolome, Tributylamine, Derivatization, Mass spectrometry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c524f35716f6308fc0a1c200b79dffd5
https://doi.org/10.33774/chemrxiv-2021-j9w16-v2 -
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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
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المؤلفون: Anna Laddach, Franca Fraternali, Sarah Grover, Heinz Jungbluth, Mathias Gautel, Roksana Nikoopour, Alexander Alexandrovich, Martin Rees
المصدر: Biophysical Journal. 118:6a
مصطلحات موضوعية: biology, Chemistry, Biophysics, biology.protein, Wild type, Titin, Computational biology, Throughput (business)
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المؤلفون: Heather Violette, Ann Vander Stoep, Carol Rockhill, Kathleen Myers, Sarah Grover
المصدر: Journal of Child and Adolescent Psychopharmacology. 23:379-385
مصطلحات موضوعية: Male, Mental Health Services, Parents, medicine.medical_specialty, Medically Underserved Area, law.invention, Randomized controlled trial, law, Surveys and Questionnaires, mental disorders, medicine, Humans, Attention deficit hyperactivity disorder, Pharmacology (medical), Child, Psychiatry, Child Behavior Checklist, Depression (differential diagnoses), Telemental health, Analysis of Variance, Depression, Original Articles, medicine.disease, Anxiety Disorders, Mental health, Telemedicine, Psychiatry and Mental health, Distress, Caregivers, Attention Deficit Disorder with Hyperactivity, Attention Deficit and Disruptive Behavior Disorders, Child, Preschool, Pediatrics, Perinatology and Child Health, Anxiety, Female, medicine.symptom, Psychology, Stress, Psychological, Clinical psychology