المؤلفون: Kleefeld, Felix, Horvath, Rita, Pinal-Fernandez, Iago, Mammen, Andrew L, Casal-Dominguez, Maria, Hathazi, Denisa, Melchert, Sarah, Hahn, Katrin, Sickmann, Albert, Muselmann-Genschow, Claudia, Hentschel, Andreas, Preuße, Corinna, Roos, Andreas, Schoser, Benedikt, Stenzel, Werner

مصطلحات موضوعية: Mitochondrial dysfunction, Myotonic dystrophy type 2, Proximal myotonic myopathy, Humans, Male, Female, Myotonic Dystrophy, Cross-Sectional Studies, Proteomics, RNA, DNA, Mitochondrial, Mitochondrial Diseases

وصف الملف: application/pdf; application/zip; text/xml

العلاقة: https://www.repository.cam.ac.uk/handle/1810/363529Test

الإتاحة: https://www.repository.cam.ac.uk/handle/1810/363529Test

المؤلفون: Georgios K. Papadimas, Constantinos Papadopoulos, Kyriaki Kekou, Chrisoula Kartanou, Athina Kladi, Evangelia Nitsa, Christalena Sofocleous, Evangelia Tsanou, Ioannis Sarmas, Stefania Kaninia, Elisabeth Chroni, Georgios Tsivgoulis, Vasilios Kimiskidis, Marianthi Arnaoutoglou, Leonidas Stefanis, Marios Panas, Georgios Koutsis, Georgia Karadima, Joanne Traeger-Synodinos

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 24, p 15507 (2022)

مصطلحات موضوعية: myotonic dystrophy, Steinert’s disease, proximal myotonic myopathy, cataract, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/23/24/15507Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/723cdaf0c536411f8edb481337c01327Test

المؤلفون: G. E. Rudenskaya, A. V. Polyakov

المصدر: Анналы клинической и экспериментальной неврологии, Vol 6, Iss 2, Pp 55-60 (2017)

مصطلحات موضوعية: myotonic dystrophy type 2, znf9 (cnbp1) gene, cctg repeats, proximal myotonic myopathy, myalgia, multisystem involvement, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://annaly-nevrologii.com/journal/pathID/article/viewFile/269/178Test; https://doaj.org/toc/2075-5473Test; https://doaj.org/toc/2409-2533Test

الوصول الحر: https://doaj.org/article/dbee0c26aadb443daad9216b2222cd72Test

المؤلفون: Meola, Giovanni

المصدر: Acta Myologica

مصطلحات موضوعية: CNBP, DM2, Humans, Myotonic Dystrophy, RNA-Binding Proteins, Original Article, proximal myotonic myopathy, myotonic dystrophy type 2, Myotonin-Protein Kinase, PROMM, DMPK, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c5a9c4085b0cca089499d846963da48eTest
http://europepmc.org/articles/PMC7783423Test

المؤلفون: Richard Pelletier, Frederic Hamel, Daniel Beaulieu, Lysanne Patry, Caroline Haineault, Mark Tarnopolsky, Benedikt Schoser, Jack Puymirat

المصدر: Neurobiology of Disease, Vol 36, Iss 1, Pp 181-190 (2009)

مصطلحات موضوعية: Myotonic dystrophy (DM), Proximal myotonic myopathy (PROMM DM2), Proximal myotonic dystrophy DM2 (PDM), Muscle satellite cell, CUGBP1, cDM1, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996109001806Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/ccab7083635f4ddcb63b3361a863e3ffTest

المؤلفون: M Gencik, M Loewe-Grgurin, C Stöllberger, Josef Finsterer, A Reining-Festa

المصدر: Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 39-43 (2018)
Balkan Journal of Medical Genetics : BJMG

مصطلحات موضوعية: medicine.medical_specialty, Proximal muscle weakness, Case Report, QH426-470, Chest pain, Asymptomatic, Gastroenterology, Proximal myotonic myopathy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Diabetes mellitus, cardiac involvement, Genetics, Medicine, Genetics (clinical), znf9 gene, Thrombocytosis, multisystem disease, business.industry, Muscle weakness, Myotonia, medicine.disease, myotonia, 030220 oncology & carcinogenesis, creatine kinase (hyper-ckemia), neuromuscular, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69f844cc7aa82c825dae4d07409ff63Test
https://doaj.org/article/74debaea8338484bacf44e95175a640eTest

المؤلفون: Gabriella Silvestri, Tanja Matkovic, Benedetta Zuliani, Marzia Munafò, Zaira Ianniello, Sonia Coni, Stephan J. Sigrist, Laura Ciapponi, Federica Mosti, Marta Marzullo, Alessandro Fatica, Enzo Agostinelli, Rosa Bordone, Gianluca Canettieri, Federica A Falconio, Alessia Perna, Alberto Macone

المصدر: eLife, Vol 10 (2021)
eLife

مصطلحات موضوعية: cellular nucleic acid-binding protein, ODC, Spermidine, translation, Ornithine decarboxylase, Animals, Genetically Modified, neuroscience, chemistry.chemical_compound, polyamine, Polyamines, Drosophila Proteins, Myotonic Dystrophy, genetics, Biology (General), Zinc finger, D. melanogaster, Chemistry, General Neuroscience, RNA-Binding Proteins, Zinc finger RNA binding protein, Translation (biology), General Medicine, Skeletal, Cell biology, Settore MED/26 - NEUROLOGIA, Drosophila melanogaster, Muscle, Medicine, RNA Interference, Drosophila, CNBP, genomics, human, myotonic dystrophy 2, Research Article, QH301-705.5, Science, Down-Regulation, Genetically Modified, Biology, Motor Activity, General Biochemistry, Genetics and Molecular Biology, Proximal myotonic myopathy, Cell Line, Downregulation and upregulation, Putrescine, Animals, Humans, Muscle, Skeletal, Gene, Messenger RNA, General Immunology and Microbiology, RNA, Genetics and Genomics, 500 Naturwissenschaften und Mathematik::570 Biowissenschaften, Biologie::570 Biowissenschaften, Biologie, biology.organism_classification, HEK293 Cells, Gene Expression Regulation, Protein Biosynthesis, Polyamine, polyamine metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362bee5ded3f2cc1b6dae67de7ea0ba9Test
http://hdl.handle.net/11573/1571355Test

المؤلفون: G. Meola, V. Sansone, D. Perani, A. Colleluori, S. Cappa, M. Cotelli, F. Fazio, C. A. Thornton, R. T. Moxley

المساهمون: G. Meola, V. Sansone, D. Perani, A. Colleluori, S. Cappa, M. Cotelli, F. Fazio, C.A. Thornton, R.T. Moxley

مصطلحات موضوعية: MRI, Myotonic dystrophy, Neuropsychological test, PET, Proximal myotonic myopathy, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/10496264; volume:53; issue:5; firstpage:1042; lastpage:1050; journal:NEUROLOGY; http://hdl.handle.net/2434/210270Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0033595470

الإتاحة: https://doi.org/10.1212/WNL.53.5.1042Test
http://hdl.handle.net/2434/210270Test

المصدر: Myotonic Dystrophy Family Registry

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT02398786Test

Other URLs: https://myotonicregistry.patientcrossroads.orgTest/

المؤلفون: Rabih Moshourab, Stefanie Grunwald, Simone Spuler, Ulrike Grieben, Gary R. Lewin, Vinko Palada

المصدر: EBioMedicine, Vol 7, Iss C, Pp 205-211 (2016)
EBioMedicine

مصطلحات موضوعية: Male, myalgia, Cross-sectional study, lcsh:Medicine, 0302 clinical medicine, 030202 anesthesiology, Myotonic Dystrophy, Medicine, Myotonic dystrophy 2, lcsh:R5-920, education.field_of_study, medicine.diagnostic_test, General Medicine, Middle Aged, Female, MAO B inhibitor, medicine.symptom, Function and Dysfunction of the Nervous System, lcsh:Medicine (General), Research Paper, Cohort study, Adult, Pain Threshold, musculoskeletal diseases, medicine.medical_specialty, Population, Quantitative sensory testing, Myotonic dystrophy, General Biochemistry, Genetics and Molecular Biology, Proximal myotonic myopathy, 03 medical and health sciences, Internal medicine, Threshold of pain, Humans, Genetic Predisposition to Disease, education, Aged, Pressure pain threshold, Muscle biopsy, Sequence Analysis, RNA, business.industry, Gene Expression Profiling, lcsh:R, Myalgia, medicine.disease, Cross-Sectional Studies, Gene Expression Regulation, RNA Seq, Physical therapy, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af366bf88e7f3edd3c7ec9a558426befTest
https://doi.org/10.1016/j.ebiom.2016.03.017Test