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1Academic Journal
المؤلفون: Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Julio Salgado Antunes, Francineide Sadala de Souza, Heveline Becker de Moura, Andreia Portilho de Brito Pinto, Jaquelin Valicek, Monica Machado Navarro, Frederico Godinho, Eni Braga da Silveira, Maria Isabel Lima, Bruno Arrivabene Cordeiro, Alexandre Faleiros Cauhi, Miriam Melo Menezes, Simone Vilela Nunes-Neves, Antonio Pedro Vargas, Rafael Xavier da-Silva-Neto, Renata Lobo Giron, Cynthia Costa-e-Silva, Reinaldo Issao Takata, Julia Filardi Paim
المصدر: Surgical and Experimental Pathology, Vol 7, Iss 1, Pp 1-23 (2024)
مصطلحات موضوعية: Neuromuscular, Epidemiology, Diagnosis, Muscle biopsy, Muscle imaging, MRI, Surgery, RD1-811, Pathology, RB1-214
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2520-8454
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2Academic Journal
المؤلفون: Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Eni Braga da Silveira, Bruno Arrivabene Cordeiro, Maria Isabel Lima, Monica Machado Navarro, Frederico Godinho, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes-Neves, Antonio Pedro Vargas, Rafael Xavier da-Silva-Neto, Cynthia Costa-e-Silva, Reinaldo Issao Takata, Alexandre Faleiros Cauhi, Julia Filardi Paim, Mariz Vainzof
المصدر: Surgical and Experimental Pathology, Vol 7, Iss 1, Pp 1-35 (2024)
مصطلحات موضوعية: Telethoninopathy, Telethonin, TCAP, Limb girdle muscular dystrophy, LGMD, LGMDR7, Surgery, RD1-811, Pathology, RB1-214
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2520-8454
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3Academic Journal
المؤلفون: Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Jaquelin Valicek, Monica M. Navarro, Sidney Baptista Junior, Eni Braga da Silveira, Maria Isabel Lima, Bruno Arrivabene Cordeiro, Alexandre Faleiros Cauhi, Miriam Melo Menezes, Simone Vilela Nunes, Antonio Pedro Vargas, Rafael Xavier Neto, Julia Filardi Paim
المصدر: Surgical and Experimental Pathology, Vol 4, Iss 1, Pp 1-20 (2021)
مصطلحات موضوعية: Muscle biopsy, Immunohistochemistry, Electron microscopy, Molecular diagnosis, Surgical pathology, Mitochondrial respiratory chain, Surgery, RD1-811, Pathology, RB1-214
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2520-8454
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4Academic Journal
المؤلفون: Ana Cotta, Renato Cesar Rezende de Castro, Julia Filardi Paim, Leonardo Sardenberg Fiuza, Maria Henriqueta Freire Lyra
المصدر: Revista Brasileira de Ortopedia, Vol 54, Iss 2, Pp 210-213
مصطلحات موضوعية: osteoid osteoma, diagnosis, bone neoplasm, child, biopsy, Medicine, Orthopedic surgery, RD701-811
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto, Antonio Pedro Vargas, Reinaldo Issao Takata, Julia Filardi Paim, Mariz Vainzof
المصدر: Genes, Vol 13, Iss 760, p 760 (2022)
مصطلحات موضوعية: central core disease, RYR1, clinical heterogeneity, electromyography, Genetics, QH426-470
Relation: https://www.mdpi.com/2073-4425/13/5/760; https://doaj.org/toc/2073-4425; https://doaj.org/article/0a82d280f69341588851a32b76eda3e7
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6
المؤلفون: Eni Braga da Silveira, Julia Filardi Paim, Antonio Lopes da-Cunha-Junior, Bruno Arrivabene Cordeiro, Sidney Baptista Junior, Ana Cotta, Antonio Pedro Vargas, Monica M. Navarro, Alexandre Faleiros Cauhi, Maria Isabel Lima, Elmano Carvalho, Simone Vilela Nunes, Miriam Melo Menezes, Jaquelin Valicek, Rafael Xavier Neto
المصدر: Surgical and Experimental Pathology, Vol 4, Iss 1, Pp 1-20 (2021)
مصطلحات موضوعية: 0301 basic medicine, Muscle tissue, Pathology, medicine.medical_specialty, Mitochondrial respiratory chain, lcsh:Surgery, Context (language use), Immunofluorescence, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Electron microscopy, lcsh:Pathology, Medicine, Surgical pathology, Muscle biopsy, medicine.diagnostic_test, business.industry, lcsh:RD1-811, medicine.disease, Immunohistochemistry, 030104 developmental biology, medicine.anatomical_structure, Molecular diagnosis, Differential diagnosis, business, 030217 neurology & neurosurgery, lcsh:RB1-214
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7Academic Journal
المؤلفون: Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier Neto, Reinaldo Issao Takata, Antonio Pedro Vargas
المصدر: Arquivos de Neuro-Psiquiatria, Vol 72, Iss 9, Pp 721-734 (2014)
مصطلحات موضوعية: distrofias musculares, ultrassonografia, biópsia, imagem por ressonância magnética, doenças neuromusculares, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000900721&lng=en&tlng=en; https://doaj.org/toc/1678-4227; https://doaj.org/article/105d814bef7440b183a6a1df391a653c
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8
المؤلفون: Michio Hirano, Mamta Giri, Ana Cotta, Hanns Lochmüller, Angela Pyle, Julia Filardi Paim, Matthew J. Jennings, Veronika Boczonadi, Jennifer Duff, Andreas Roos, Helen Griffin, Vamsi K. Mootha, Aurora Gomez-Duran, Adela Della Marina, Eric P Hoffmann, Joanna Poulton, Michael G. Hanna, Robert D S Pitceathly, Kristine Chapman, Juliane S Müller, Kairit Joost, Denisa Hathazi, Claudia Calabrese, Benjamin Munro, Sarah F Pearce, Salvatore DiMauro, Monica Machado Navarro, Michal Minczuk, Mar Tulinius, Wei Wei, Serenella Servidei, Michele Giunta, Christopher A. Powell, Johanna Uusimaa, Rita Horvath, Andre Mattman, Patrick F. Chinnery, Ulrike Schara
المساهمون: Powell, Christopher [0000-0001-7501-0586], Joost, Kairit [0000-0003-2544-3230], Minczuk, Michal [0000-0001-8242-1420], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: The EMBO Journal
مصطلحات موضوعية: Male, Proteomics, reversible infantile respiratory chain deficiency, Mitochondrial Diseases, Medizin, Gene Expression, medicine.disease_cause, igenic inheritance, digenic inheritance, Quadriceps Muscle, 0302 clinical medicine, Mitochondrial myopathy, Membrane & Intracellular Transport, 0303 health sciences, Mutation, tRNA Methyltransferases, General Neuroscience, Mitochondrial Myopathies, Articles, Digenic inheritance, Penetrance, 3. Good health, Mitochondria, Pedigree, homoplasmic tRNA mutation, Female, medicine.medical_specialty, Mitochondrial DNA, Adolescent, Mitochondrial disease, Biology, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Article, Cell Line, Mitochondrial Proteins, 03 medical and health sciences, Lipid oxidation, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, General Immunology and Microbiology, mitochondrial myopathy, Infant, medicine.disease, Endocrinology, Metabolism, Mitochondrial biogenesis, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Elmano Carvalho, Reinaldo Issao Takata, Ericka Viana Machado Carellos, Alessandra de-La-Rocque-Ferreira, AntonioLopes da-Cunha-Junior, Monica Machado Navarro, Julia Filardi Paim, Rita Horvath, Sidney Baptista-Junior, Maria Isabel Lima, Jaquelin Valicek, Ana Cotta, Eni Braga da Silveira
المصدر: Neuromuscular disorders : NMD. 31(6)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, Biopsy, Respiratory Chain Deficiency, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Ragged-red fibers, Internal medicine, Muscle fat, Medicine, Humans, Muscle, Skeletal, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Mitochondrial Myopathies, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, Neonatal hypotonia, Neurology, Lactic acidosis, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
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10
المؤلفون: Maria Isabel Lima, Jaquelin Valicek, Mariko Okubo, Ana Cotta, Aritoshi Iida, Roberto Velloso-Filho, Ichizo Nishino, Antonio Lopes da-Cunha-Junior, Reinaldo Issao Takata, Michio Inoue, Miriam Melo Menezes, Monica M. Navarro, Julia Filardi Paim, Elmano Carvalho, Maria Henriqueta Freire-Lyra
المساهمون: National Center of Neurology and Psychiatry National Institute of Mental Health (NCNP), Institut de Myologie, 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), National Center of Neurology and Psychiatry [Tokyo, Japan]
المصدر: Journal of the Neurological Sciences
Journal of the Neurological Sciences, 2020, 415, pp.116977. ⟨10.1016/j.jns.2020.116977⟩مصطلحات موضوعية: Pathology, medicine.medical_specialty, Vacuolar Proton-Translocating ATPases, Autophagic vacuolar myopathy, business.industry, [SDV]Life Sciences [q-bio], Neurology, Muscular Diseases, Medicine, Humans, Neurology (clinical), Clinical imaging, medicine.symptom, business, Myopathy, Muscle, Skeletal, Brazil
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11
المؤلفون: Michele Giunta, Hanns Lochmueller, Monica Machado Navarro, Denisa Hathazi, Sarah F Pearce, Serenella Servidei, Michal Minczuk, Manta Giri, Christopher A. Powell, Vamsi K. Mootha, Juliane S Mueller, Claudia Calabrese, Benjamin Munro, Rita Horvath, Veronika Boczonadi, Matthew J. Jennings, Ana Cotta, Andreas Roos, Eric P Hoffmann, Angela Pyle, Michael G. Hanna, Mar Tulinius, Michio Hirano, Wei Wei, Joanna Poulton, Kristine Chapman, Julia Filardi Paim, Robert D S Pitceathly, Helen Griffin, Andre Mattmann, Aurora Gomez-Duran, Johanna Uusima, Ulrike Schara, Kairit Joost, Jennifer Duff, Salvatore DiMauro, Patrick F. Chinnery
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Mutation, Mitochondrial DNA, Mitochondrial translation, Catabolism, Mitochondrial disease, Biology, medicine.disease_cause, medicine.disease, Penetrance, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Mitochondrial myopathy, Mitochondrial biogenesis, Internal medicine, medicine, 030217 neurology & neurosurgery, 030304 developmental biology
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12
المؤلفون: Luciano Romero Lima, Sidney Baptista Junior, Monica M. Navarro, Ana Cotta, Antonio Pedro Vargas, Jaquelin Valicek, Reinaldo Issao Takata, Antonio Lopes da-Cunha-Junior, Miriam Melo Menezes, Julia Filardi Paim, Rafael Xavier-Neto, Elmano Carvalho, Simone Vilela Nunes
المصدر: Arquivos de Neuro-Psiquiatria v.75 n.11 2017
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO
Arquivos de Neuro-Psiquiatria, Vol 75, Iss 11, Pp 789-795مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, diagnosis, Genetic counseling, Population, neuromuscular diseases, lcsh:RC321-571, 03 medical and health sciences, 0302 clinical medicine, Biopsy, medicine, Humans, Facioscapulohumeral muscular dystrophy, biopsy, Myopathy, education, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Retrospective Studies, education.field_of_study, medicine.diagnostic_test, business.industry, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, 030104 developmental biology, Neurology, Female, epidemiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy
وصف الملف: text/html
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13
المؤلفون: Eduardo B. U. Cavalcanti, Antonette Souto El Husny, Isabel Cristina Neves Souza, Camila de Aquino Cruz, Regina Célia Beltrão Duarte, Pablo Brea Winckler, Umbertina Conti Reed, Daniel Fernando Arias Betancur, Ana Cotta, Marjory Irineu Bená, Marcela C. Machado-Costa, Raimunda Helena Ferreira Feio, Cleonísio Leite Rodrigues, Cláudia Ferreira da Rosa Sobreira, Marcondes Cavalcante França Junior, Cynthia Costa e Silva, Rodrigo de Holanda Mendonça, André Macedo Serafim Silva, Elmano Carvalho, Julia Filardi Paim, Marcia Lorena Fagundes Chaves, Carlo Domenico Marrone, Antonio Rodrigues Coimbra Neto, Jonas Alex Morales Saute, Renata Barreto Tenório, Edmar Zanoteli, Marcus Goncalves
مصطلحات موضوعية: business.industry, medicine, Anatomy, medicine.disease, business, Limb-girdle muscular dystrophy
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14
المؤلفون: Antônio R. Coimbra-Neto, Alzira Alves de Siqueira Carvalho, Jonas Alex Morales Saute, Marcia Lorena Fagundes Chaves, Regina Célia Beltrão Duarte, Cynthia Costa e Silva, Rodrigo de Holanda Mendonça, Ana Cotta, Pablo Brea Winckler, Umbertina Conti Reed, Eduardo B. U. Cavalcanti, Carlo Domenico Marrone, Renata Barreto Tenório, Marcondes C. França, Julia Filardi Paim, Marcela C. Machado-Costa, Antonette Souto El Husny, Marcus Goncalves, Marjory Irineu Bená, Isabel Cristina Neves de Souza, Cleonísio L. Rodrigues, Raimunda Helena Ferreira Feio, Daniel Fernando Arias Betancur, Cláudia Ferreira da Rosa Sobreira, André Macedo Serafim da Silva, Edmar Zanoteli, Elmano Carvalho, Camila de Aquino Cruz
المصدر: Clinical geneticsREFERENCES. 96(4)
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Male, medicine.medical_specialty, Pediatrics, Genotype, Genes, Recessive, 030105 genetics & heredity, 03 medical and health sciences, Sex Factors, Gene Frequency, Epidemiology, Genetics, medicine, Humans, Genetic Predisposition to Disease, Muscular dystrophy, Age of Onset, Geography, Medical, Genetics (clinical), Survival analysis, Alleles, Genetic Association Studies, Muscle Weakness, business.industry, Genetic heterogeneity, medicine.disease, Natural history, 030104 developmental biology, Phenotype, Muscular Dystrophies, Limb-Girdle, Disease Progression, Female, Differential diagnosis, business, Biomarkers, Brazil, Limb-girdle muscular dystrophy, Sarcoglycanopathies
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15
المؤلفون: Reinaldo Issao Takata, Antonio Lopes da Cunha Junior, Camila de Almeida, Antonio Pedro Vargas, Mariz Vainzof, Elmano Carvalho, Julia Filardi Paim, Monica M. Navarro, Ana Cotta, Jaquelin Valicek, Maria Inês Salgueiro Lima
المصدر: Journal of molecular neuroscience : MN. 69(4)
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, myalgia, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Heterozygote, Genetic counseling, Mutation, Missense, LMNA, Diagnosis, Differential, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Medicine, Humans, Genetic Testing, Muscular dystrophy, Muscle contracture, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscle weakness, Cardiac arrhythmia, General Medicine, Middle Aged, medicine.disease, Lamin Type A, Muscular Dystrophy, Emery-Dreifuss, Pedigree, 030104 developmental biology, Biological Variation, Population, Female, medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Antonio Lopes da-Cunha-Junior, Julia Filardi Paim, Antonio Pedro Vargas, Elmano Carvalho, Simone Vilela Nunes, Monica M. Navarro, Miriam Melo Menezes, Jaquelin Valicek, Reinaldo Issao Takata, Rafael Xavier Neto, Ana Cotta
المصدر: Arquivos de Neuro-Psiquiatria, Vol 72, Iss 9, Pp 721-734 (2014)
Arquivos de Neuro-Psiquiatria v.72 n.9 2014
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEUROمصطلحات موضوعية: Male, musculoskeletal diseases, doenças neuromusculares, Dysferlinopathy, Biopsy, imagem por ressonância magnética, biópsia, Limb girdle, neuromuscular diseases, Thigh, lcsh:RC321-571, Diagnosis, Differential, Medical Illustration, medicine, magnetic resonance imaging, Humans, biopsy, Anterior compartment of thigh, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Ultrasonography, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscles, Anatomy, ultrasonography, medicine.disease, body regions, Sarcoglycanopathy, medicine.anatomical_structure, Neurology, Muscular Dystrophies, Limb-Girdle, distrofias musculares, muscular dystrophies, Female, Neurology (clinical), Differential diagnosis, business, Tomography, X-Ray Computed, ultrassonografia, Limb-girdle muscular dystrophy
وصف الملف: text/html
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المؤلفون: Ana Cotta, Shelida Vasconcelos Braz, Reinaldo Issao Takata, Elmano Carvalho, Jaquelin Valicek, Julia Filardi Paim, Antonio P. Vargas, Estevão Plentz, Antonio Lopes da-Cunha-Junior, Monica M. Navarro, Camila F. Almeida, Mariz Vainzof
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Muscle Fibers, Skeletal, Telethonin, Biology, Polymorphism, Single Nucleotide, Cellular and Molecular Neuroscience, Sarcolemma, Atrophy, medicine, Deformity, Humans, Connectin, Child, Nemaline bodies, Foot deformity, Muscle biopsy, Pelvic girdle, medicine.diagnostic_test, General Medicine, Anatomy, medicine.disease, Mitochondria, Phenotype, Muscular Dystrophies, Limb-Girdle, Female, medicine.symptom, MIOPATIAS CONGÊNITAS ESTRUTURAIS, Limb-girdle muscular dystrophy
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18
المؤلفون: Ana Cotta, Antonio Lopes da-Cunha-Junior, Cynthia Costa-E-Silva, Rafael Xavier-Neto, Reinaldo Issao Takata, Antonio Pedro Vargas, Elmano Carvalho, Monica Machado Navarro, Simone Vilela Nunes, Jaquelin Valicek, Julia Filardi Paim, Eni Braga da Silveira, Miriam Melo Menezes
المصدر: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 44(3)
مصطلحات موضوعية: 0301 basic medicine, Adult, Weakness, Pathology, medicine.medical_specialty, Heterozygote, Adolescent, Genetic counseling, Late onset, Muscular Dystrophies, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Muscular dystrophy, Myopathy, Muscle contracture, Aged, Retrospective Studies, Muscle biopsy, medicine.diagnostic_test, biology, business.industry, General Medicine, Middle Aged, medicine.disease, 030104 developmental biology, Phenotype, Neurology, biology.protein, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Renato César Rezende de Castro, Ana Cotta, Yana Senna Jeronymo Najjar, Ricardo Karam Kalil, Rogério Teles de Melo, Julia Filardi Paim, Francineide Sadala de Souza
المصدر: Radiologia Brasileira, Vol 45, Iss 1, Pp 13-19 (2012)
Radiologia Brasileira v.45 n.1 2012
Radiologia Brasileira
Colégio Brasileiro de Radiologia e Diagnóstico por Imagem (CBR)
instacron:CBRمصطلحات موضوعية: musculoskeletal diseases, Osteoid osteoma, lcsh:Medical physics. Medical radiology. Nuclear medicine, medicine.medical_specialty, Osteoma osteoide, Radiography, lcsh:R895-920, Elbow, Periosteal reaction, Sinovite, Imagem, Lesion, Synovitis, medicine, Radiology, Nuclear Medicine and imaging, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Joint effusion, medicine.disease, body regions, Biópsia, medicine.anatomical_structure, Radiology, medicine.symptom, Intra-articular, Cotovelo, business
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المؤلفون: Julia Filardi Paim, Eni Braga da Silveira, Monica M. Navarro, Ana Cotta, Rafael Xavier-Neto, Mariz Vainzof, Rita de Cássia M. Pavanello, Elmano Carvalho, Jaquelin Valicek, Leonardo G. Leão, L. Nogueira, Reinaldo Issao Takata
المصدر: Muscle & Nerve. 56:E8-E9
مصطلحات موضوعية: 0301 basic medicine, RYR1, Physiology, business.industry, Autophagy, medicine.disease, Congenital myopathy, Cell biology, Core (optical fiber), 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Physiology (medical), Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery