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

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

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

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; Volume 23; Issue 24; Pages: 15507

مصطلحات موضوعية: myotonic dystrophy, Steinert’s disease, proximal myotonic myopathy, cataract

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms232415507

الاتاحة: https://doi.org/10.3390/ijms232415507

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

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

URL الوصول: https://doaj.org/article/dbee0c26aadb443daad9216b2222cd72

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c5a9c4085b0cca089499d846963da48e
http://europepmc.org/articles/PMC7783423

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

Relation: http://www.sciencedirect.com/science/article/pii/S0969996109001806; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/ccab7083635f4ddcb63b3361a863e3ff

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362bee5ded3f2cc1b6dae67de7ea0ba9
http://hdl.handle.net/11573/1571355

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69f844cc7aa82c825dae4d07409ff63
https://doaj.org/article/74debaea8338484bacf44e95175a640e

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

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

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af366bf88e7f3edd3c7ec9a558426bef
https://doi.org/10.1016/j.ebiom.2016.03.017

المؤلفون: 栗原 照幸

المصدر: 日本内科学会雑誌 / Nihon Naika Gakkai Zasshi. 2004, 93(3):510

المؤلفون: Helmut Rauschka, Martin Gencik, Maria Loewe-Grgurin, Marlies Frank, Alexandra Karpatova, Josef Finsterer

المصدر: Acta Clinica Belgica. 70:432-435

مصطلحات موضوعية: Liver Cirrhosis, Male, musculoskeletal diseases, medicine.medical_specialty, Cirrhosis, medicine.diagnostic_test, business.industry, Encephalopathy, General Medicine, Middle Aged, medicine.disease, Myotonia, Myotonic dystrophy, Gastroenterology, Pedigree, Proximal myotonic myopathy, Internal medicine, medicine, Humans, Myotonic Dystrophy, Elevated transaminases, business, Liver function tests, Hepatic encephalopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::793e0102f82d0137d8aff0209555a49b
https://doi.org/10.1179/2295333715y.0000000043

المؤلفون: Emmanuel Kanavakis, Constantinos Papadopoulos, Evangelia Kararizou, Kiriaki Kekou, George K. Papadimas, Panagiota Manta

المصدر: Muscle & Nerve. 51:686-691

مصطلحات موضوعية: musculoskeletal diseases, myalgia, Pediatrics, medicine.medical_specialty, Physiology, business.industry, Muscle weakness, Retrospective cohort study, medicine.disease, Myotonia, Myotonic dystrophy, Proximal myotonic myopathy, Surgery, Cellular and Molecular Neuroscience, Physiology (medical), medicine, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion, business, Myopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8b31755ea1ad967fb631a83f211265dd
https://doi.org/10.1002/mus.24440

المؤلفون: M. Božić, I. Senćanić, Jovan Pesovic, Stojan Peric, Vidosava Rakocevic-Stojanovic, Miloš Brkušanin, Saša Šviković, Dusanka Savic-Pavicevic

المصدر: European journal of neurology. 24(11)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Senile cataract, Myotonic dystrophy type 2, Proximal myotonic myopathy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Ophthalmology, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dfa399a135b15cc2108ecbbf3f0640c
https://pubmed.ncbi.nlm.nih.gov/29024355

المؤلفون: Martina Witsch-Baumgartner, Georg Safoschnik, Josef Finsterer

المصدر: SAGE Open Medical Case Reports, Vol 5 (2017)
SAGE Open Medical Case Reports

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Myotonic dystrophy, Myotonic dystrophy type 2, Case Report, Physical exercise, ZNF9, Proximal myotonic myopathy, 03 medical and health sciences, 0302 clinical medicine, CCTG-expansion, physical exercise, medicine, lcsh:R5-920, Leukopenia, business.industry, General Medicine, Myotonia, medicine.disease, myotonia, 030104 developmental biology, CNBP gene, medicine.symptom, sport, business, lcsh:Medicine (General), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171d4e73dce78cb1daf54dcdf9bcc929
https://doaj.org/article/48994d8044b4465fbd380fc4f8398054

المؤلفون: Josef Finsterer

المصدر: Acta Neurologica Belgica. 120:441-442

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Neurology, Heart Diseases, business.industry, MEDLINE, General Medicine, Disease, medicine.disease, Myotonic dystrophy, Proximal myotonic myopathy, Sudden cardiac death, Heart failure, medicine, Humans, Myotonic Dystrophy, Neurology (clinical), business, Neuroradiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc7e382752e5f2edacaced08e7974b17
https://doi.org/10.1007/s13760-019-01082-x

المؤلفون: Frank Hanisch, C. Kronenberger, Malte Kornhuber, Stephan Zierz

المصدر: Clinical Neurophysiology. 125:1485-1490

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Electromyography, Gastroenterology, Proximal myotonic myopathy, Muscular Diseases, Physiology (medical), Internal medicine, Humans, Medicine, Facioscapulohumeral muscular dystrophy, Centronuclear myopathy, Myopathy, Pathological, Retrospective Studies, Fibrillation, medicine.diagnostic_test, Glycogen Storage Disease Type II, business.industry, digestive, oral, and skin physiology, nutritional and metabolic diseases, food and beverages, Middle Aged, medicine.disease, Sensory Systems, Surgery, Muscular Dystrophies, Limb-Girdle, Neurology, Female, Neurology (clinical), medicine.symptom, business, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4068a3c69e6541792473d3bbc421f75
https://doi.org/10.1016/j.clinph.2013.11.021

المؤلفون: Jigar Mehta, Jimmy Dodhania, Jitendra D Lakhani, Hetal Pandya

المصدر: Australasian Medical Journal, Vol 5, Iss 4, Pp 213-216 (2012)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, lcsh:R5-920, Congenital Myotonic Dystrophy, business.industry, Myotonic dystrophy type 2, congenital myotonic dystrophy, Case Report, General Medicine, medicine.disease, Myotonic dystrophy, Anatomic variant, Proximal myotonic myopathy, Ophthalmology, Dystrophia myotonica, Rare case, medicine, Clinical significance, Mega cisterna magna, business, mega cisterna magna, lcsh:Medicine (General)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c94670cfb9bafaea9f1b796c7e0c8bc
http://www.amj.net.au/index.php?journal=AMJ&page=article&op=view&path[]=1000&path[]=923

المؤلفون: Sabine Rudnik-Schöneborn, Wolfram Kress, A. Lindner, Klaus Zerres, S. Zumhagen, Miriam Elbracht, M. Schaupp, E. Schulze-Bahr

المصدر: European Journal of Neurology. 18:191-194

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Genetic heterogeneity, Cardiomyopathy, Disease, medicine.disease, Sudden cardiac death, Proximal myotonic myopathy, Neurology, Cardiac Conduction Disorder, Internal medicine, cardiovascular system, medicine, Cardiology, cardiovascular diseases, Neurology (clinical), Family history, business, Brugada syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::036e325a69cbf78bbf36e4f0a75c06ec
https://doi.org/10.1111/j.1468-1331.2010.03077.x

المؤلفون: David Hilton-Jones, Chris Turner

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 81:358-367

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neuromuscular disease, RNA Splicing, Myotonic dystrophy type 2, Disease, Protein Serine-Threonine Kinases, Bioinformatics, Myotonic dystrophy, Myotonin-Protein Kinase, Proximal myotonic myopathy, Diagnosis, Differential, Pregnancy, Prenatal Diagnosis, medicine, Humans, Myotonic Dystrophy, Point Mutation, Muscular dystrophy, Muscle, Skeletal, business.industry, DNA Sequence, Unstable, Molecular pathogenesis, Dehydroepiandrosterone, Genetic Therapy, Creatine, Prognosis, medicine.disease, Myotonia, Facial Expression, Insulin-Like Growth Factor Binding Protein 1, Blotting, Southern, Psychiatry and Mental health, Female, Surgery, Neurology (clinical), Trinucleotide Repeat Expansion, business, Chromosomes, Human, Pair 19

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ca455d9e802747463ad468a16894c05
https://doi.org/10.1136/jnnp.2008.158261

المؤلفون: Matthew D. Disney, Alexei Pushechnikov, Melissa M. Lee

المصدر: ACS Chemical Biology. 4:345-355

مصطلحات موضوعية: Molecular Sequence Data, Computational biology, Biology, Ligands, Models, Biological, Biochemistry, Myotonic dystrophy, Article, RNA Motifs, Proximal myotonic myopathy, chemistry.chemical_compound, Drug Delivery Systems, medicine, Myotonic Dystrophy, Nucleotide, chemistry.chemical_classification, Base Sequence, Molecular Structure, Ligand, Rational design, RNA, Peptoid, General Medicine, medicine.disease, Combinatorial chemistry, Pharmaceutical Preparations, chemistry, Molecular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98385bee3e456b3267d3837287e011f4
https://doi.org/10.1021/cb900025w