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المؤلفون: Louise Deldicque, Cheryl Elizabeth Hickmann, Pierre-François Laterre, Marc Francaux, Jean Roeseler, Diego Castanares-Zapatero, Peter Van den Bergh, Gilles Caty, Annie Robert
المصدر: Critical Care Medicine
مصطلحات موضوعية: muscle atrophy, Male, autophagy, early mobilization, medicine.medical_specialty, critically ill, Catabolic state, Clinical Investigations, Critical Care and Intensive Care Medicine, Muscle mass, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Secondary Prevention, medicine, Humans, Muscle, Skeletal, Physical Therapy Modalities, Secondary prevention, business.industry, Septic shock, catabolism, Skeletal muscle, 030208 emergency & critical care medicine, Middle Aged, medicine.disease, Shock, Septic, medicine.anatomical_structure, 030228 respiratory system, Shock (circulatory), ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Physical therapy, septic shock, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ffa5b41e45a01e22968412e6a7c9c1aTest
https://doi.org/10.1097/ccm.0000000000003263Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50b0834b2069a16869cd3b6e7cc432fTest
http://hdl.handle.net/2066/231686Test -
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المؤلفون: Peter Van den Bergh, Vincent Van Pesch, Nicolas Dubuisson
المصدر: Muscle & Nerve. 56:828-832
مصطلحات موضوعية: Physiology, Elbow, Electromyography, Fasciculation, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), medicine, Humans, 030212 general & internal medicine, medicine.diagnostic_test, business.industry, Neuromuscular Diseases, Motor conduction block, Middle Aged, medicine.disease, Median Nerve, body regions, Axilla, medicine.anatomical_structure, Cramp fasciculation syndrome, Anesthesia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Multifocal motor neuropathy, Thenar eminence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153303633a7beed216344e5ad578df7bTest
https://doi.org/10.1002/mus.25528Test -
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المؤلفون: Georges Mer, Kaori Hojo, Shana L. Merrill, Jessica Deleon, Peter Van den Bergh, Maria Victoria Botuyan, Noah Beadell, Inès Mademan, Christopher J. Klein, Gregory A. Worrell, Yanhong Wu, Henry Houlden, Nicole McGrath, Jan Senderek, Gordon Smith, Jonathan Baets, Xiaohui Duan, Mary M. Reilly, Julie Khoury, Murray Grossman, Joachim Weis, Matilde Laura, William W. Seeley, Steven S. Scherer, Peter De Jonghe, Yo Tsen Liu, Peter J. Dyck
المصدر: Brain
مصطلحات موضوعية: Adult, DNA (Cytosine-5-)-Methyltransferase 1, Male, Bioinformatics, medicine.disease_cause, environment and public health, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Hereditary sensory and autonomic neuropathy, medicine, Autophagy, Humans, DNA (Cytosine-5-)-Methyltransferases, Cognitive decline, Hereditary Sensory and Autonomic Neuropathies, Cognitive deficit, Cellular localization, 030304 developmental biology, Aged, Genetics, 0303 health sciences, Mutation, Cerebellar ataxia, urogenital system, Original Articles, Middle Aged, medicine.disease, 3. Good health, Pedigree, HEK293 Cells, embryonic structures, Female, Neurology (clinical), Human medicine, medicine.symptom, Nervous System Diseases, Psychology, 030217 neurology & neurosurgery, Narcolepsy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f4def148fad12e85799ea261ea18ddTest
https://pubmed.ncbi.nlm.nih.gov/25678562Test -
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المؤلفون: Radim Mazanec, Nathalie Goemans, Albena Jordanova, H.-J. Christen, Christine Verellen, James R. Lupski, Jan De Bleecker, Paolo Vinci, Matthias Van Hul, Kristien Verhoeven, Rudy Van Coster, Els De Vriendt, Andrzej Kochański, Wim Robberecht, Jeffery M. Vance, Velina Guergueltcheva, Peter De Jonghe, Ian J. Butler, Gulam Mustafa Saifi, Peter Vieregge, Vedrana Milic Rasic, Filip Roelens, J. Michael Schröder, Eva Nelis, Chantal Ceuterick, Kristl Claeys, Pavel Seeman, Kinga Szigeti, Barbara Ryniewicz, Pedro Mancias, Stephan Züchner, Yoram Nevo, I. Tournev, Vincent Timmerman, María Teresa García Moreno, Michaela Auer-Grumbach, Joachim Weis, Peter Van den Bergh, Michael E. Shy
المصدر: Brain
مصطلحات موضوعية: Pathology, medicine.disease_cause, Severity of Illness Index, GTP Phosphohydrolases, 0302 clinical medicine, Degenerative disease, Charcot-Marie-Tooth Disease, Genotype, mitofusin 2, Age of Onset, Child, 0303 health sciences, Mutation, education.field_of_study, Middle Aged, Electrophysiology, medicine.anatomical_structure, Phenotype, Child, Preschool, Sensory nerve, Adult, medicine.medical_specialty, Adolescent, Population, Sural nerve, Biology, genotype-phenotype correlation, Mitochondrial Proteins, 03 medical and health sciences, Atrophy, atrophy, Sural Nerve, medicine, features, Humans, education, gene, 030304 developmental biology, Aged, Membrane Proteins, medicine.disease, charcot-marie-tooth type 2, mitofusin-2, Surgery, Microscopy, Electron, disease type-2, neuropathy, Neurology (clinical), Age of onset, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fbd19685d12f10b9f298f3ffdd049b5Test
https://pubmed.ncbi.nlm.nih.gov/16714318Test -
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المؤلفون: Peter Hackman, Sylvie Marchand, Bjarne Udd, Peter Van den Bergh, Isabelle Richard, Olivier Bouquiaux, Christine Verellen
المصدر: Annals of neurology. 54(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, Muscle Proteins, Locus (genetics), Biology, Asymptomatic, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Tibialis anterior muscle, Belgium, Internal medicine, medicine, Humans, Point Mutation, Connectin, Family, Muscular dystrophy, Myopathy, Muscle, Skeletal, Creatine Kinase, Gait Disorders, Neurologic, 030304 developmental biology, Subclinical infection, Aged, 0303 health sciences, Leg, Electromyography, Anatomy, DNA, Exons, Middle Aged, medicine.disease, Penetrance, Pedigree, stomatognathic diseases, Neurology, biology.protein, Titin, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, human activities, Protein Kinases, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbb5d62d3982a7bd5711ab5ba1d94b92Test
https://pubmed.ncbi.nlm.nih.gov/12891679Test