المؤلفون: Labasse, Clémence, Brochier, Guy, Taratuto, Ana-Lia, Cadot, Bruno, Rendu, John, Monges, Soledad, Biancalana, Valérie, Quijano-Roy, Susana, Bui, Mai Thao, Chanut, Anaïs, Madelaine, Angéline, Lacène, Emmanuelle, Beuvin, Maud, Amthor, Helge, Servais, Laurent, de Feraudy, Yvan, Erro, Marcela, Saccoliti, Maria, Neto, Osorio Abath, Fauré, Julien, Lannes, Béatrice, Laugel, Vincent, Coppens, Sandra, Lubieniecki, Fabiana, Bello, Ana Buj, Laing, Nigel, Evangelista, Teresinha, Laporte, Jocelyn, Böhm, Johann, Romero, Norma B

المصدر: Acta Neuropathologica Communications, 10 (1), 101 (2022-07)

مصطلحات موضوعية: ACTA1, Congenital myopathy, Cytoplasmic bodies, Intranuclear rods, Nemaline rods, Neuromuscular junction, Nuclear envelope, Actins, Actins/genetics, Actins/metabolism, Biopsy, Child, Female, Humans, Muscle Weakness/metabolism, Muscle, Skeletal/pathology, Mutation/genetics, Nuclear Envelope/metabolism, Nuclear Envelope/pathology, Pregnancy, Myopathies, Nemaline/genetics, Myopathies, Nemaline/pathology, Muscle Weakness, Muscle, Skeletal, Mutation, Myopathies, Nemaline, Pathology and Forensic Medicine, Neurology (clinical), Cellular and Molecular Neuroscience, Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie

Relation: https://link.springer.com/content/pdf/10.1186/s40478-022-01400-0.pdf; urn:issn:2051-5960

URL الوصول: https://orbi.uliege.be/handle/2268/295917

المؤلفون: Melin, Eva, Lindroos, Eva, Lundberg, Ingrid E, Borg, Kristian, Korotkova, Marina

المصدر: Journal of Rehabilitation Medicine. 46(1):67

المؤلفون: Preiser, Jean-Charles

المصدر: Critical care, 13 (5

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Blood Glucose -- metabolism, Body Composition, Critical Care, Humans, Metabolism, Muscle Weakness -- metabolism

وصف الملف: 2 full-text file(s): application/pdf | application/pdf

Relation: uri/info:doi/10.1186/cc8024; uri/info:pii/cc8024; uri/info:pmid/19863767; uri/info:pmcid/PMC2784348; https://dipot.ulb.ac.be/dspace/bitstream/2013/157408/4/PMC2784348.pdf; https://dipot.ulb.ac.be/dspace/bitstream/2013/157408/6/doi_142461.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/157408

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/157408
https://dipot.ulb.ac.be/dspace/bitstream/2013/157408/4/PMC2784348.pdf
https://dipot.ulb.ac.be/dspace/bitstream/2013/157408/6/doi_142461.pdf

المؤلفون: Repp, Birgit M, Mastantuono, Elisa, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Alston, Charlotte L, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J M, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F M, Moroni, Isabella, Schiff, Manuel, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Haack, Tobias B, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Rötig, Agnes, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria

المصدر: Orphanet journal of rare diseases 13(1), 120 (2018). doi:10.1186/s13023-018-0784-8

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Acidosis: genetics, Acidosis: metabolism, Acidosis: pathology, Activities of Daily Living, Acyl-CoA Dehydrogenase: deficiency, Acyl-CoA Dehydrogenase: genetics, Acyl-CoA Dehydrogenase: metabolism, Amino Acid Metabolism, Inborn Errors: genetics, Inborn Errors: metabolism, Inborn Errors: pathology, Cardiomyopathy, Hypertrophic: genetics, Hypertrophic: metabolism, Hypertrophic: pathology, Electron Transport Complex I: metabolism, Female, Humans, Male, Mitochondrial Diseases: genetics, Mitochondrial Diseases: metabolism, Mitochondrial Diseases: pathology, Muscle Weakness: drug therapy, Muscle Weakness: genetics, Muscle Weakness: metabolism, Muscle Weakness: pathology, Prognosis, Riboflavin: therapeutic use, Acyl-CoA Dehydrogenase

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:30025539; info:eu-repo/semantics/altIdentifier/issn/1750-1172; https://pub.dzne.de/record/140094; https://pub.dzne.de/search?p=id:%22DZNE-2020-06416%22

الاتاحة: https://pub.dzne.de/record/140094
https://pub.dzne.de/search?p=id:%22DZNE-2020-06416%22

المؤلفون: Jean-Charles Preiser

المصدر: Critical care, 13 (5
Critical Care

مصطلحات موضوعية: Blood Glucose, medicine.medical_specialty, Vasopressin, Critical Care, Review, Critical Care and Intensive Care Medicine, medicine, Humans, Endocrine system, Intensive care medicine, Hydrocortisone, Muscle Weakness -- metabolism, Muscle Weakness, Blood Glucose -- metabolism, business.industry, Septic shock, Muscle weakness, Metabolism, Sciences bio-médicales et agricoles, medicine.disease, Body Composition, Observational study, medicine.symptom, business, medicine.drug, Hormone

وصف الملف: 2 full-text file(s): application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55ce3819d5b71d0d2e92af3f6fb97750
https://doi.org/10.1186/cc8024