المؤلفون: Sarah A. Cumming, Anneli Cooper, Ralf Krahe, Jack Puymirat, Darren G. Monckton, Berit Adam, Simon Rogers, Charles A. Thornton, Adam Kurkiewicz, T. Ashizawa, Emily McIlwaine, John D. McClure, Lubov Timchenko, Benedikt Schoser

المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 4, p e0231000 (2020)

مصطلحات موضوعية: 0301 basic medicine, Microarray, Physiology, Microarrays, Bioinformatics, Biochemistry, Machine Learning, 0302 clinical medicine, Mathematical and Statistical Techniques, Medicine and Health Sciences, Myotonic Dystrophy, Muscular dystrophy, Oligonucleotide Array Sequence Analysis, Clinical Trials as Topic, Multidisciplinary, Muscles, Statistics, Genetic disorder, Muscle Analysis, Body Fluids, Nucleic acids, Blood, Bioassays and Physiological Analysis, Treatment Outcome, Genetic Diseases, Physical Sciences, Medicine, Regression Analysis, Anatomy, Databases, Nucleic Acid, Research Article, musculoskeletal diseases, Genetic Markers, congenital, hereditary, and neonatal diseases and abnormalities, Science, Context (language use), Linear Regression Analysis, Biostatistics, Research and Analysis Methods, Polyadenylation, Myotonic dystrophy, Myotonin-Protein Kinase, 03 medical and health sciences, medicine, Genetics, Humans, RNA, Messenger, Statistical Methods, Least-Squares Analysis, Gene, Clinical Genetics, Models, Genetic, business.industry, Alternative splicing, Biology and Life Sciences, medicine.disease, Myotonia, Alternative Splicing, 030104 developmental biology, RNA processing, RNA, Gene expression, business, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery, Biomarkers, Mathematics, Forecasting

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f88b162c8447cad8292fd435052081Test
http://europepmc.org/articles/PMC7156058Test

المؤلفون: Kenji Jinnai, Masamitsu Nishi, Harutoshi Fujimura, Hiroo Yoshikawa, Takashi Kimura, Tsuyoshi Matsumura, Koichi Suenaga, Masataka Igeta, Mitsuru Furuta

المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 5, p e0224912 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, Central Nervous System, Nervous System, Hippocampus, Motor Neuron Diseases, Exon, chemistry.chemical_compound, 0302 clinical medicine, Cerebellum, Medicine and Health Sciences, MBNL1, Myotonic Dystrophy, Amyotrophic lateral sclerosis, Gray Matter, Cerebral Cortex, Multidisciplinary, RNA-Binding Proteins, Brain, Neurodegenerative Diseases, White Matter, Temporal Lobe, medicine.anatomical_structure, Neurology, Genetic Diseases, RNA splicing, Medicine, Female, Anatomy, Research Article, musculoskeletal diseases, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Science, Grey matter, Biology, Research and Analysis Methods, Myotonic dystrophy, White matter, 03 medical and health sciences, Young Adult, Extraction techniques, Internal medicine, medicine, Humans, Molecular Biology Techniques, Molecular Biology, Clinical Genetics, Alternative splicing, Gene Mapping, Amyotrophic Lateral Sclerosis, Biology and Life Sciences, medicine.disease, RNA extraction, Alternative Splicing, 030104 developmental biology, Endocrinology, chemistry, Exon Mapping, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca3bd5695c5801566470ee4bcfefdc25Test
https://pubmed.ncbi.nlm.nih.gov/32407311Test

المؤلفون: Tomoko Maekawa, Yukio Kimura, Miho Ota, Madoka Mori-Yoshimura, Noriko Sato, Hiroshi Matsuda, Mikako Enokizono, Norihide Maikusa, Atsuhiko Sugiyama, Daichi Sone, Yasushi Ohya, Satoshi Kuwabara

المصدر: PLoS ONE
PLoS ONE, Vol 12, Iss 11, p e0187343 (2017)

مصطلحات موضوعية: 0301 basic medicine, Power graph analysis, Central Nervous System, Male, lcsh:Medicine, Nervous System, Diagnostic Radiology, 0302 clinical medicine, Face perception, Medicine and Health Sciences, Myotonic Dystrophy, Gray Matter, lcsh:Science, Child, Cognitive Impairment, Multidisciplinary, medicine.diagnostic_test, Cognitive Neurology, Radiology and Imaging, Middle Aged, Magnetic Resonance Imaging, Neurology, Genetic Diseases, Female, Anatomy, Network Analysis, Research Article, Adult, medicine.medical_specialty, Computer and Information Sciences, Neural Networks, Adolescent, Imaging Techniques, Cognitive Neuroscience, Neuroimaging, Research and Analysis Methods, Myotonic dystrophy, 03 medical and health sciences, Young Adult, Atrophy, Diagnostic Medicine, medicine, Humans, Psychiatry, Clinical Genetics, business.industry, lcsh:R, Biology and Life Sciences, Magnetic resonance imaging, Voxel-based morphometry, medicine.disease, 030104 developmental biology, Face, Cognitive Science, lcsh:Q, Brain Gray Matter, business, Neuroscience, Head, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59a6e6e73a160e0464b3a5fb39636fa3Test
http://europepmc.org/articles/PMC5667809Test

المؤلفون: Roger Estrada-Tejedor, Alejandro López González, Jordi Teixidó, José I. Borrell

المصدر: PLoS ONE, Vol 11, Iss 3, p e0152049 (2016)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, RNA, Untranslated, Molecular model, Molecular biology, Molecular Dynamics, 01 natural sciences, Physical Chemistry, Biochemistry, Molecular dynamics, Computational Chemistry, Mathematical and Statistical Techniques, Biochemical Simulations, Myotonic Dystrophy, RNA structure, Genetics, Principal Component Analysis, Multidisciplinary, Crystallography, Molecular Structure, Simulation and Modeling, Physics, Autosomal dominant trait, Condensed Matter Physics, Nucleic acids, Chemistry, RNA splicing, Physical Sciences, Crystal Structure, Medicine, Statistics (Mathematics), Research Article, Science, Computational biology, Biology, Molecular Dynamics Simulation, 010402 general chemistry, Research and Analysis Methods, Myotonic dystrophy, 03 medical and health sciences, medicine, Solid State Physics, Humans, Nucleic acid structure, Statistical Methods, Chemical Physics, Chemical Bonding, Biology and life sciences, RNA, Computational Biology, Hydrogen Bonding, medicine.disease, 0104 chemical sciences, Macromolecular structure analysis, 030104 developmental biology, Multivariate Analysis, Nucleic Acid Conformation, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, Mathematics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f801b0c609d245098d4d045a42b6df9Test
https://doaj.org/article/7718f0700a244f4fafc0f2c50eb8748dTest

المؤلفون: Arturo Lopez-Castel, Juan M. Fernandez-Costa, Beatriz Llamusi, Ruben Artero, Manuel Pérez-Alonso, Miren Zulaica, Ariadna Bargiela, M. Carmen Alvarez-Abril, Adolfo López de Munain

المصدر: PLoS ONE, Vol 11, Iss 2, p e0150501 (2016)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Male, Pathology, Physiology, lcsh:Medicine, Artificial Gene Amplification and Extension, Disease, Bioinformatics, Biochemistry, Polymerase Chain Reaction, 0302 clinical medicine, Trinucleotide Repeats, Medicine and Health Sciences, Myotonic Dystrophy, lcsh:Science, Musculoskeletal System, Multidisciplinary, Muscles, Hematology, Middle Aged, 3. Good health, Body Fluids, Nucleic acids, Blotting, Southern, Blood, Genetic Diseases, Biomarker (medicine), Anatomy, Research Article, Adult, musculoskeletal diseases, medicine.medical_specialty, Biology, Research and Analysis Methods, Myotonic dystrophy, 03 medical and health sciences, Extraction techniques, microRNA, medicine, Genetics, Humans, Non-coding RNA, Molecular Biology Techniques, Gene, Molecular Biology, Clinical Genetics, Biology and life sciences, Gene Expression Profiling, lcsh:R, medicine.disease, RNA extraction, Gene regulation, Gene expression profiling, MicroRNAs, 030104 developmental biology, Skeletal Muscles, RNA, lcsh:Q, Gene expression, Age of onset, 030217 neurology & neurosurgery, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdbf4ea3f2a07bccc9ae185d399f3faeTest
http://europepmc.org/articles/PMC4769077?pdf=renderTest

المؤلفون: Felicia S.H. Cheah, Min Chen, Samuel S. Chong, Hai-Yang Law, Caroline G.L. Lee, Mingjue Zhao

المصدر: PLoS ONE, Vol 12, Iss 7, p e0180984 (2017)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Physiology, Buccal swab, lcsh:Medicine, Artificial Gene Amplification and Extension, Polymerase Chain Reaction, Capillary Electrophoresis, law.invention, 0302 clinical medicine, Plasmid, law, Medicine and Health Sciences, Myotonic Dystrophy, lcsh:Science, DNA extraction, Polymerase chain reaction, Multidisciplinary, Physics, Neurodegenerative Diseases, Melting, Condensed Matter Physics, Body Fluids, Huntington Disease, Neurology, Genetic Diseases, Helminth Infections, Physical Sciences, Anatomy, Phase Transitions, Research Article, Neglected Tropical Diseases, Plasmids, Genotype, Biology, Research and Analysis Methods, Melting curve analysis, 03 medical and health sciences, Electrophoretic Techniques, Capillary electrophoresis, Extraction techniques, Echinococcosis, Parasitic Diseases, Allele, Molecular Biology Techniques, Saliva, Molecular Biology, Alleles, Clinical Genetics, Autosomal Dominant Diseases, lcsh:R, Biology and Life Sciences, Electrophoresis, Capillary, Assay sensitivity, Tropical Diseases, Molecular biology, 030104 developmental biology, lcsh:Q, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdd167c63f623ea8136bb03b8a82aa5cTest
http://europepmc.org/articles/PMC5507316?pdf=renderTest

المؤلفون: Giovanni Meola, Barbara Fossati, Laura Valentina Renna, Sara Iachettini, Roberto Colombo, Lorenzo Saraceno, Rosanna Cardani, Francesca Bosè, Valentina Milani

المصدر: PLoS ONE
PLoS ONE, Vol 12, Iss 9, p e0184987 (2017)

مصطلحات موضوعية: Male, 0301 basic medicine, Physiology, Biopsy, medicine.medical_treatment, lcsh:Medicine, Muscle Proteins, Biochemistry, Endocrinology, Medicine and Health Sciences, Insulin, Myotonic Dystrophy, Post-Translational Modification, Phosphorylation, lcsh:Science, Musculoskeletal System, Aged, 80 and over, Multidisciplinary, Organic Compounds, Myogenesis, Muscles, Monosaccharides, Middle Aged, Chemistry, medicine.anatomical_structure, Genetic Diseases, Physical Sciences, Female, Anatomy, ITGA7, Research Article, Signal Transduction, Adult, medicine.medical_specialty, Carbohydrates, Surgical and Invasive Medical Procedures, Biology, Myotonic dystrophy, 03 medical and health sciences, Insulin resistance, Antigens, CD, Internal medicine, medicine, Humans, Protein kinase B, Aged, Diabetic Endocrinology, Clinical Genetics, Endocrine Physiology, lcsh:R, Insulin Signaling, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Proteins, Skeletal muscle, medicine.disease, Hormones, Receptor, Insulin, Alternative Splicing, Insulin receptor, Glucose, 030104 developmental biology, Skeletal Muscles, Gene Expression Regulation, biology.protein, lcsh:Q, Insulin Resistance

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05c1c46310047c626f2e31e182efdb6fTest
https://doi.org/10.1371/journal.pone.0184987Test

المؤلفون: Benedikt Schoser, Haris Babačić, Aditi Mehta, Olivia M. Merkel

المصدر: PLoS ONE, Vol 14, Iss 2, p e0212198 (2019)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Heredity, Genetic Linkage, Duchenne muscular dystrophy, Duchenne Muscular Dystrophy, Disease, Synthetic Genome Editing, Biochemistry, Genome Engineering, Muscular Dystrophies, Dystrophin, Guide RNA, Mice, 0302 clinical medicine, Genome editing, Medicine and Health Sciences, CRISPR, Musculoskeletal System, Gene Editing, DNA Repeat Expansion, Multidisciplinary, Muscles, Crispr, Gene Transfer Techniques, Animal Models, Neuromuscular Diseases, Nucleic acids, Neurology, Experimental Organism Systems, X-Linked Traits, Sex Linkage, Engineering and Technology, Medicine, Synthetic Biology, Anatomy, Research Article, MEDLINE, Science, Bioengineering, Mouse Models, Computational biology, Research and Analysis Methods, Myotonic dystrophy, 03 medical and health sciences, Model Organisms, Genetics, medicine, Point Mutation, Animals, Humans, Gene silencing, Gene Silencing, Cardiac Muscles, Clinical Genetics, business.industry, Genetic Diseases, Inborn, Biology and Life Sciences, Proteins, Synthetic Genomics, medicine.disease, Exon skipping, Cytoskeletal Proteins, Disease Models, Animal, 030104 developmental biology, Skeletal Muscles, Synthetic Bioengineering, Mutation, Animal Studies, RNA, CRISPR-Cas Systems, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb87cf5b360a3188297fed049ec50a1eTest
https://doi.org/10.1371/journal.pone.0212198Test

المؤلفون: Qing Yu, Karunasai Mahadevan, Mahua Mandal, Yun K. Kim, Ramesh S. Yadava, Michael Leitges, Mani S. Mahadevan

المصدر: PLoS ONE
PLoS ONE, Vol 11, Iss 9, p e0163325 (2016)

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, RNA splicing, lcsh:Medicine, RNA-binding protein, Toxicology, Pathology and Laboratory Medicine, Biochemistry, Animal Cells, Medicine and Health Sciences, Myotonic Dystrophy, lcsh:Science, Musculoskeletal System, Multidisciplinary, Muscles, Animal Models, 3. Good health, Nucleic acids, Genetic Diseases, Anatomy, Cellular Types, Research Article, Gene isoform, Histopathology, Mouse Models, Biology, Research and Analysis Methods, Muscle Fibers, 03 medical and health sciences, Model Organisms, Extraction techniques, Genetics, Protein kinase A, Gene, Protein kinase C, Clinical Genetics, 030102 biochemistry & molecular biology, Toxicity, lcsh:R, Wild type, RNA, Biology and Life Sciences, Cell Biology, Skeletal Muscle Fibers, Molecular biology, RNA extraction, 030104 developmental biology, Skeletal Muscles, RNA processing, Anatomical Pathology, lcsh:Q, Gene expression

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6135227a04dfb50f4061eb354f963269Test
https://pubmed.ncbi.nlm.nih.gov/27657532Test

المؤلفون: Brian G. Jorgensen, Joseph M. Miano, Chanjae Park, Nathan Grainger, Moon Young Lee, Terence K. Smith, Robyn M. Berent, Kenton M. Sanders, Peter J. Blair, Paul J. Park, Robert D. Corrigan, Se Eun Ha, Sean M. Ward, Orazio J. Slivano, Seungil Ro

المصدر: PLoS ONE, Vol 12, Iss 2, p e0171262 (2017)
PLoS ONE

مصطلحات موضوعية: Male, Proteomics, 0301 basic medicine, Serum Response Factor, Muscle Physiology, genetic structures, Physiology, Gene Expression, lcsh:Medicine, Polymerase Chain Reaction, Biochemistry, Ion Channels, Mice, Database and Informatics Methods, 0302 clinical medicine, Medicine and Health Sciences, lcsh:Science, Musculoskeletal System, Mice, Knockout, Smooth Muscles, Microscopy, Confocal, Mammalian Genomics, Multidisciplinary, Voltage-dependent calcium channel, Muscles, Physics, Myotonin-protein kinase, Genomics, Smooth muscle contraction, musculoskeletal system, Electrophysiology, Jejunum, Physical Sciences, cardiovascular system, Female, Anatomy, medicine.symptom, Sequence Analysis, tissues, Muscle Contraction, Research Article, Muscle contraction, medicine.medical_specialty, Calcium Channels, L-Type, Colon, Bioinformatics, Blotting, Western, Biophysics, Neurophysiology, Biology, Research and Analysis Methods, Myotonic dystrophy, Myotonin-Protein Kinase, Contractility, 03 medical and health sciences, Sequence Motif Analysis, Internal medicine, Serum response factor, Genetics, medicine, Animals, L-type calcium channel, lcsh:R, Biology and Life Sciences, Proteins, Muscle, Smooth, medicine.disease, Gastrointestinal Tract, Tamoxifen, 030104 developmental biology, Endocrinology, Animal Genomics, lcsh:Q, Calcium Channels, sense organs, Digestive System, 030217 neurology & neurosurgery, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed6e96bacdfaa6a6d678a585d663851Test
https://doi.org/10.1371/journal.pone.0171262Test