المؤلفون: Lester, Emilie Boye, Larsen, Martin Jakob, Laulund, Lone Walentin, Illum, Niels, Dunkhase-Heinl, Ulrike, Schrøder, Henrik Daa, Fagerberg, Christina Ringmann

المصدر: Lester , E B , Larsen , M J , Laulund , L W , Illum , N , Dunkhase-Heinl , U , Schrøder , H D & Fagerberg , C R 2023 , ' Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine ' , European Journal of Medical Genetics , vol. 66 , no. 3 , 104706 . https://doi.org/10.1016/j.ejmg.2023.104706Test

مصطلحات موضوعية: Malignant hyperthermia, Myasthenia, Ophthalmoplegia, RYR1 congenital myopathy, Ryanodine receptor calcium release channel, Therapeutics, Ryanodine Receptor Calcium Release Channel/genetics, Humans, Muscle Weakness/genetics, Male, Muscle, Skeletal/pathology, Phenotype, Pyridostigmine Bromide/therapeutic use, Adolescent, Mutation, Muscular Diseases/genetics

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/ab9e8c37-831f-47af-82de-1ee76c294fbeTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104706Test
https://portal.findresearcher.sdu.dk/da/publications/ab9e8c37-831f-47af-82de-1ee76c294fbeTest
https://findresearcher.sdu.dk/ws/files/223498457/RYR1_accepteret_manuskript.pdfTest

المؤلفون: Holmöy, Trygve, Braaten, Öivind, Hovden, Inger Anette Hynås, Tallaksen, Chantal M

المصدر: Tidsskrift for Den Norske Laegeforening. 131(6):583

المؤلفون: Stormorken, H

المصدر: Tidsskrift for Den Norske Laegeforening. 122(30):2853

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

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

الإتاحة: https://doi.org/10.1186/s13023-018-0784-8Test
https://pub.dzne.de/record/140094Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-06416%22Test

المؤلفون: Tajsharghi, Homa, 1968, Kimber, Eva, 1951, Holmgren, Daniel, 1945, Tulinius, Mar, 1953, Oldfors, Anders, 1951

المصدر: Neurology. 68(10):772-5

مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Adult, Aged, Arginine/genetics, Arthrogryposis/*genetics, DNA Mutational Analysis/methods, Exons, Family Health, Female, Humans, Muscle Weakness/*genetics, Mutation, Missense/*genetics, Tropomyosin/*genetics, Tryptophan/genetics

الوصول الحر: https://gup.ub.gu.se/publication/58869Test

المؤلفون: Fong, L. G., Ng, J. K., Lammerding, J., Vickers, T. A., Meta, M., Cote, N., Gavino, B., Qiao, X., Chang, S. Y., Young, S. R., Yang, S. H., Stewart, C. L., Lee, R. T., Bennett, C. F., Bergö, Martin, 1970, Young, S. G.

المصدر: J Clin Invest. 116(3):743-752

مصطلحات موضوعية: Cell and Molecular Biology, Cell- och molekylärbiologi, Djurmodeller, CAAX proteiner, prelamin A, Animals, Cell Line, Transformed, Cells, Cultured, Female, Fibroblasts/metabolism, Lamin Type A/deficiency/genetics/metabolism/*physiology, Mice, Inbred C57BL, Knockout, Transgenic, Muscle Weakness/genetics, Nuclear Lamina/*physiology, Nuclear Proteins/genetics/*physiology, Protein Isoforms/genetics/metabolism, Protein Precursors/genetics/*physiology, RNA, Messenger/metabolism, Research Support, N.I.H., Extramural, Non-U.S. Gov't, Skull/abnormalities, Spine/abnormalities

الوصول الحر: https://gup.ub.gu.se/publication/55193Test

المؤلفون: González-Freire, Marta, Santiago Dorrego, Catalina, Gómez Gallego, Félix, Pérez Ruiz, Margarita, Foster, Carl, Arenas, Joaquín, Lucía Mulas, Alejandro

مصطلحات موضوعية: Genetic Predisposition To Disease/*Genetics, Glycogen Storage Disease Type V/*Genetics, Mutation/*Genetics, Myostatin/*Genetics, Amp Deaminase/Genetics, Dna Mutational Analysis, Exercise Tolerance/Genetics, Female, Genetic Variation/Genetics, Genotype, Glycogen/Metabolism, Glycogen Storage Disease Type V/Metabolism, Glycogen Storage Disease Type V/Physiopathology, Heterozygote, Humans, Muscle Weakness/Genetics, Muscle, Skeletal/Metabolism, Skeletal/Physiopathology, Peptidyl-Dipeptidase A/Genetics, Phenotype, Respiratory Insufficiency/Genetics, Enfermedad nutricional, Deporte, Tratamiento médico

العلاقة: González-Freire, M., Santiago-Dorrego, C., Gómez-Gallego, F., Pérez-Ruiz, M., Foster, C., Arenas, J., & Lucía-Mulas, A. (2009). Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease? Neuromuscular Disorders, 19(3), 220-222.; http://hdl.handle.net/11268/1120Test

الإتاحة: https://doi.org/10.1016/j.nmd.2009.01.001Test
http://hdl.handle.net/11268/1120Test

المؤلفون: Carl Foster, Joaquín Arenas, Alejandro Lucia, Félix Gómez-Gallego, Margarita Pérez, Catalina Santiago, Marta Gonzalez-Freire

مصطلحات موضوعية: DNA Mutational Analysis, Respiratory Insufficiency/Genetics, Myostatin, Disease, AMP Deaminase, Tratamiento médico, Genotype, Glycogen/Metabolism, Actinin, Genetics (clinical), Exercise Tolerance, Muscle Weakness, Exercise Tolerance/Genetics, biology, Muscle, Skeletal/Physiopathology, Genetic Variation/Genetics, Deporte, Dna Mutational Analysis, Phenotype, Neurology, Peptidyl-Dipeptidase A/Genetics, Female, medicine.symptom, Respiratory Insufficiency, Glycogen storage disease type V, Glycogen, Adult, Glycogen Storage Disease Type V/Physiopathology, medicine.medical_specialty, Heterozygote, Adolescent, Genetic Predisposition To Disease/*Genetics, Peptidyl-Dipeptidase A, Internal medicine, Genetic variation, Glycogen Storage Disease Type V/*Genetics, medicine, Myostatin/*Genetics, Humans, Genetic Predisposition to Disease, Muscle, Skeletal, Enfermedad nutricional, Muscle Weakness/Genetics, Aged, Muscle weakness, Genetic Variation, Cardiorespiratory fitness, Heterozygote advantage, medicine.disease, Endocrinology, Muscle, Skeletal/Metabolism, Amp Deaminase/Genetics, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Glycogen Storage Disease Type V, Neurology (clinical), Glycogen Storage Disease Type V/Metabolism, Mutation/*Genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::539c42aa69b9ade0cc7de6f61a11a30dTest
https://hdl.handle.net/11268/1120Test

المؤلفون: Garvey, S. M., Senderek, J., Beckmann, J. S., Seboun, E., Jackson, C. E., Hauser, M. A.

المصدر: Annals of Human Genetics, vol. 70, no. Pt 3, pp. 414-6

مصطلحات موضوعية: Blotting, Southern Blotting, Western Cytoskeletal Proteins/*genetics DNA Mutational Analysis Distal Myopathies/*genetics Genetic Predisposition to Disease Humans Muscle Proteins/*genetics Muscle Weakness/*genetics *Pharyngeal Muscles Polymorphism, Single Nucleotide *Vocal Cords

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16674563; info:eu-repo/semantics/altIdentifier/pissn/0003-4800; https://serval.unil.ch/notice/serval:BIB_A5D48B9A5F92Test

الإتاحة: https://doi.org/10.1111/j.1529-8817.2005.00252.xTest
https://serval.unil.ch/notice/serval:BIB_A5D48B9A5F92Test