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المؤلفون: Alex MacKenzie, Stephen Baird, Sean O'Reilly, Nafisa Neault, Julio Plaza-Díaz, Faraz Farooq, Aiman Tariq Baig, Mehrdad Azimi
المصدر: PLoS ONE, Vol 16, Iss 9, p e0256276 (2021)
PLoS ONEمصطلحات موضوعية: Small interfering RNA, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, RNA interference, Medical Conditions, Animal Cells, Medicine and Health Sciences, MBNL1, Myotonic Dystrophy, Connective Tissue Cells, 0303 health sciences, Gene knockdown, Multidisciplinary, Messenger RNA, RNA-Binding Proteins, Software Engineering, Cell biology, Enzymes, Nucleic acids, Genetic interference, Connective Tissue, Genetic Diseases, Engineering and Technology, Medicine, Epigenetics, Cellular Types, Anatomy, Research Article, Computer and Information Sciences, RNA Splicing, Science, Biology, Transfection, Research and Analysis Methods, Myotonic dystrophy, Sarcoplasmic Reticulum Calcium-Transporting ATPases, Computer Software, 03 medical and health sciences, medicine, Genetics, Humans, RNA, Messenger, Protein kinase A, Non-coding RNA, Molecular Biology Techniques, Molecular Biology, 030304 developmental biology, Cell Nucleus, Clinical Genetics, Biology and life sciences, RNA, Proteins, Cell Biology, Fibroblasts, medicine.disease, Protein kinase R, High-Throughput Screening Assays, Gene regulation, Biological Tissue, chemistry, Case-Control Studies, Enzymology, Gene expression, Trinucleotide Repeat Expansion, Protein Kinases, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10df39cc9d916343a75a04788c0e8345Test
https://doaj.org/article/d2f4199a57cb4eb1b7f3e8037cd72e1aTest -
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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 -
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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 -
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المؤلفون: Thomas Gwechenberger, Alexander Barié, Birgit Friedmann-Bette, Holger Lornsen, Francesca Profit, Marc-André Weber, Mario Parstorfer
المصدر: PLoS ONE
PLoS ONE, Vol 16, Iss 10, p e0258635 (2021)مصطلحات موضوعية: Male, Muscle Physiology, Anterior cruciate ligament reconstruction, genetic structures, Physiology, medicine.medical_treatment, Biopsy, Gene Expression, Muscle Proteins, Biochemistry, Muscle hypertrophy, Quadriceps Muscle, Medical Conditions, Medicine and Health Sciences, Medicine, Eccentric, Myotonic Dystrophy, Gene Regulatory Networks, Public and Occupational Health, Wasting, Musculoskeletal System, Multidisciplinary, Muscles, musculoskeletal system, Sports Science, Genetic Diseases, Strength Training, Female, medicine.symptom, Anatomy, Research Article, Muscle Contraction, Adult, medicine.medical_specialty, Strength training, Vastus lateralis muscle, Science, Surgical and Invasive Medical Procedures, Contractility, Young Adult, Atrophy, Signs and Symptoms, Internal medicine, Genetics, Humans, Sports and Exercise Medicine, Exercise, Clinical Genetics, Anterior Cruciate Ligament Reconstruction, business.industry, Anterior Cruciate Ligament Injuries, Gene Expression Profiling, Biology and Life Sciences, Proteins, Resistance Training, Physical Activity, medicine.disease, Endocrinology, Gene Expression Regulation, Skeletal Muscles, Athletes, Physical Fitness, sense organs, Clinical Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5df519b49e1f08658995fa1ce90ca75Test
https://pubmed.ncbi.nlm.nih.gov/34648569Test -
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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 -
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المصدر: PLoS ONE, Vol 14, Iss 5, p e0217317 (2019)
PLoS One, 14
PLoS ONE
PLoS One, 14, 5مصطلحات موضوعية: Cytoplasm, Myoblast proliferation, Cellular differentiation, Muscle Fibers, Skeletal, Gene Expression, Muscle Development, Biochemistry, Myoblasts, chemistry.chemical_compound, Exon, 0302 clinical medicine, Animal Cells, Gene expression, Medicine and Health Sciences, Morphogenesis, Myotonic Dystrophy, MBNL1, Gene Editing, Staining, 0303 health sciences, Multidisciplinary, Myogenesis, Stem Cells, RNA-Binding Proteins, Cell Differentiation, Exons, Muscle Differentiation, Cell biology, Nucleic acids, Genetic Diseases, Medicine, Cellular Types, Cellular Structures and Organelles, Anatomy, Research Article, congenital, hereditary, and neonatal diseases and abnormalities, Science, Muscle Tissue, Biology, Research and Analysis Methods, Myotonin-Protein Kinase, Cell Line, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Genetics, Humans, Cytoplasmic Staining, 030304 developmental biology, Clinical Genetics, Muscle Cells, Biology and Life Sciences, RNA, Cell Biology, Alternative Splicing, Biological Tissue, RNA processing, chemistry, Specimen Preparation and Treatment, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dd4a214a399f6e6f53a00caa9cc9b22Test
https://doaj.org/article/8056f6342c3a42f88a2ebf548b866f63Test -
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المؤلفون: David Orlikowski, Frédéric Lofaso, Pascal Crenn, Adam Ogna, Anthony Behin, Robert Carlier, Hélène Prigent, Abdallah Fayssoil, Pascal Laforêt, Guillaume Bassez, Dominique Mompoint, Tanya Stojkovic, Paris Meng, Bruno Eymard, Bernard Clair, Djillali Annane, Lee S. Nguyen
المساهمون: Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France [Paris], Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre d’Investigation Clinique 1429 [Garches] (CIC 1429), Hôpital Raymond Poincaré [AP-HP]-Institut National de la Santé et de la Recherche Médicale (INSERM), CIC Paris Est, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de réanimation medico-chirurgicale [CHU Raymond-Poincaré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Hôpital Raymond Poincaré [AP-HP], Infection et inflammation (2I), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de physiologie et d'explorations fonctionnelles [CHU Raymond-Poincaré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique Paris Est [CHU Pitié Salpêtrière] (CIC Paris-Est), Centre d'investigation clinique pluridisciplinaire [CHU Pitié Salpêtrière] (CIC-P 1421), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Bodescot, Myriam, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
المصدر: PLoS ONE
PLoS ONE, Vol 14, Iss 4, p e0214288 (2019)
PLoS ONE, Public Library of Science, 2019, 14 (4), pp.e0214288. ⟨10.1371/journal.pone.0214288⟩
PLoS ONE, 2019, 14 (4), pp.e0214288. ⟨10.1371/journal.pone.0214288⟩مصطلحات موضوعية: Male, Vital capacity, Time Factors, Heredity, Genetic Linkage, Vital Capacity, Respiratory System, Velocity, Blood Pressure, Duchenne Muscular Dystrophy, 030204 cardiovascular system & hematology, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Vascular Medicine, Muscular Dystrophies, Diagnostic Radiology, 0302 clinical medicine, Thoracic Diaphragm, Ultrasound Imaging, Medicine and Health Sciences, Myotonic Dystrophy, Respiratory function, Respiratory system, Tidal volume, Multidisciplinary, Respiration, Physics, Radiology and Imaging, Ultrasound, Classical Mechanics, Neuromuscular Diseases, respiratory system, Middle Aged, musculoskeletal system, Diaphragm (structural system), medicine.anatomical_structure, Neurology, X-Linked Traits, Sex Linkage, Genetic Diseases, Physical Sciences, Cardiology, Medicine, Female, Anatomy, psychological phenomena and processes, Research Article, Adult, medicine.medical_specialty, Imaging Techniques, Science, Movement, Diaphragm, Nose, Research and Analysis Methods, Doppler Imaging, Thoracic diaphragm, 03 medical and health sciences, FEV1/FVC ratio, Motion, stomatognathic system, Diagnostic Medicine, Internal medicine, medicine, Pressure, Tidal Volume, Genetics, Humans, Clinical Genetics, business.industry, Biology and Life Sciences, Ultrasonography, Doppler, body regions, 030228 respiratory system, ROC Curve, Case-Control Studies, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0ad524489c277cef7e65b6bd117b62Test
https://pubmed.ncbi.nlm.nih.gov/31017911Test -
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المؤلفون: Fernando Morales, Darren G. Monckton, Melissa Vásquez, Patricia Cuenca, Carolina Santamaría-Ulloa, Baili Zhang, Ralf Krahe, Eyleen Corrales
المصدر: PLoS ONE, Vol 14, Iss 5, p e0216407 (2019)
PLoS ONE
PLOS ONE, 14(5), 1-17
Kérwá
Universidad de Costa Rica
instacron:UCRمصطلحات موضوعية: Male, Saliva, Physiology, DNA Mutational Analysis, Gene Identification and Analysis, Genetic Networks, Biochemistry, Polymerase Chain Reaction, law.invention, Trinucleotide Repeats, law, Medicine and Health Sciences, Myotonic Dystrophy, Age of Onset, Polymerase chain reaction, Genetics, DNA methylation, Multidisciplinary, Myotonic dystrophy type 1, Chemical Reactions, DMPK (CTG)n locus, Chromatin, Body Fluids, Nucleic acids, Chemistry, Blood, Genetic Diseases, Physical Sciences, Medicine, Epigenetics, Female, Anatomy, DNA modification, Chromatin modification, Network Analysis, Research Article, Chromosome biology, Cell biology, Computer and Information Sciences, Science, Locus (genetics), Biology, Methylation, Myotonic dystrophy, medicine, Humans, Allele, Genotyping, Clinical Genetics, Biology and Life Sciences, DNA, medicine.disease, Genetic Loci, Mutation, Somatic Mutation, Gene expression, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d6789f814c5f2e08c0dec36deaf2afTest
https://doi.org/10.1371/journal.pone.0216407Test -
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المؤلفون: Irati Arenzana, Adolfo López de Munain, Miren Zulaica, Garazi Labayru, Andone Sistiaga, Jone Aliri
المصدر: PLoS ONE, Vol 13, Iss 9, p e0204227 (2018)
Addi. Archivo Digital para la Docencia y la Investigación
instname
PLoS ONEمصطلحات موضوعية: Social Cognition, Male, Emotions, Theory of Mind, Social Sciences, lcsh:Medicine, Neuropsychological Tests, Anger, spectrum, Cognition, Learning and Memory, 0302 clinical medicine, expansion, Theory of mind, Medicine and Health Sciences, Psychology, Myotonic Dystrophy, lcsh:Science, media_common, Cognitive Impairment, Multidisciplinary, Cognitive Neurology, 05 social sciences, Age Factors, Middle Aged, Neurology, Genetic Diseases, muscular-dystroph, Female, Anatomy, Facial Recognition, Research Article, Clinical psychology, metaanalysis, Adult, Social Psychology, Cognitive Neuroscience, media_common.quotation_subject, prevalence, Empathy, Face Recognition, 050105 experimental psychology, 03 medical and health sciences, Memory, Social cognition, Humans, Personality, 0501 psychology and cognitive sciences, Social Behavior, Clinical Genetics, facial emotion recognition, disease, lcsh:R, Cognitive Psychology, Biology and Life Sciences, muscular-dy frontotemporal dementia, Disgust, quality-of-life, personality, Face, Case-Control Studies, Cognitive Science, Faux pas, Perception, lcsh:Q, Self Report, Head, 030217 neurology & neurosurgery, Neuroscience
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b035b9494c3742575539b50c3897e93bTest
http://europepmc.org/articles/PMC6152965?pdf=renderTest -
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المؤلفون: Barbara Spanò, Mara Cercignani, Antonio Petrucci, Giovanni Antonini, Manlio Giacanelli, Marco Bozzali, Matteo Mancini, Loretta Licchelli, Laura Serra, Carlo Caltagirone, Lisa Cipolotti, Gabriella Silvestri, Michela Bruschini, Elisabetta Bucci, Giovanni Meola
المساهمون: Serra, L, Cercignani, M, Bruschini, M, Cipolotti, L, Mancini, M, Silvestri, G, Petrucci, A, Bucci, E, Antonini, G, Licchelli, L, Spanò, B, Giacanelli, M, Caltagirone, C, Meola, G, Bozzali, M
المصدر: PLoS ONE, Vol 11, Iss 6, p e0156901 (2016)
PLoS ONEمصطلحات موضوعية: Male, Social Cognition, Magnetic Resonance Spectroscopy, Theory of Mind, Adult, Brain, Cognition, Female, Humans, Middle Aged, Myotonic Dystrophy, Neuropsychological Tests, Social Behavior, Social Sciences, lcsh:Medicine, Disease, Diagnostic Radiology, 0302 clinical medicine, Functional Magnetic Resonance Imaging, Theory of mind, Medicine and Health Sciences, Psychology, lcsh:Science, Cognitive Impairment, Brain Mapping, Multidisciplinary, medicine.diagnostic_test, Cognitive Neurology, Radiology and Imaging, agricultural and biological sciences (all), biochemistry, genetics and molecular biology (all), medicine (all), 05 social sciences, Magnetic Resonance Imaging, Neurology, RC0346, Genetic Diseases, Physical Sciences, Settore MED/26 - Neurologia, Research Article, Clinical psychology, musculoskeletal diseases, Computer and Information Sciences, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Social Psychology, Imaging Techniques, Cognitive Neuroscience, Neuroimaging, Dysfunctional family, Research and Analysis Methods, Myotonic dystrophy, 050105 experimental psychology, 03 medical and health sciences, Diagnostic Medicine, Social cognition, Theory of mind, cerebral lesion, Genetics, medicine, 0501 psychology and cognitive sciences, Psychiatry, Clinical Genetics, Settore M-PSI/02 - Psicobiologia E Psicologia Fisiologica, lcsh:R, Cognitive Psychology, Biology and Life Sciences, Human Genetics, medicine.disease, Comprehension, Graph Theory, RC0321, Cognitive Science, lcsh:Q, Functional magnetic resonance imaging, Mathematics, 030217 neurology & neurosurgery, Neuroscience
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938792f0572409c235656a0da9f77642Test
http://europepmc.org/articles/PMC4892543?pdf=renderTest