المؤلفون: Clemens, Paula, Gordish-Dressman, Heather, Niizawa, Gabriela, Gorni, Ksenija, Guglieri, Michela, Connolly, Anne, Wicklund, Matthew, Bertorini, Tulio, Mah, Jean, Thangarajh, Mathula, Smith, Edward, Kuntz, Nancy, Upadhyayula, S, Byrne, Barry, Manousakis, Georgios, Harper, Amy, Iannaccone, Susan, Dang, Utkarsh, McDonald, Craig, Henricson, Erik

المصدر: Journal of Neuromuscular Diseases. 11(1)

مصطلحات موضوعية: Muscular dystrophies, dystrophin, muscle, natural history, skeletal, Adult, Adolescent, Humans, Child, Muscular Dystrophy, Duchenne, Prospective Studies, Cross-Sectional Studies, Phenotype, Myocardium

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9k77c2d2Test

المؤلفون: Kovalchick, Laurel V, Bates, Kameron, Statland, Jeffrey, Weihl, Conrad, Kang, Peter B, Lowes, Linda P, Mozaffar, Tahseen, Straub, Volker, Wicklund, Matthew, Heatwole, Chad, Johnson, Nicholas E

المصدر: Neuromuscular Disorders. 32(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Intellectual and Developmental Disabilities (IDD), Muscular Dystrophy, Brain Disorders, Clinical Research, Rare Diseases, Management of diseases and conditions, 7.1 Individual care needs, Adolescent, Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Muscle Weakness, Muscular Dystrophies, Limb-Girdle, Patient Reported Outcome Measures, Phenotype, Quality of Life, Registries, Surveys and Questionnaires, Young Adult, Quality of life, Limb girdle muscular dystrophy, Patient report, Dysferlin, Calpain-3, FKRP, Dysferlin, Calpain-3, Medical Physiology, Neurology & Neurosurgery, Clinical sciences, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/71j6q837Test

المؤلفون: Bhatia, Aashim, Mobley, Bret C, Cogan, Joy, Koziura, Mary E, Brokamp, Elly, Phillips, John, Newman, John, Undiagnosed Diseases Network (UDN), Moore, Steven A, Hamid, Rizwan, Members of the Undiagnosed Diseases Network

مصطلحات موضوعية: Undiagnosed Diseases Network, Members of the Undiagnosed Diseases Network, Lower Extremity, Muscle, Skeletal, Humans, Muscle Weakness, Muscular Dystrophies, Limb-Girdle, Muscular Atrophy, Molecular Chaperones, Magnetic Resonance Imaging, Adolescent, Female, MRI, Muscular dystrophy, TorsinA-interacting protein 1, Biomedical Imaging, Pediatric, Intellectual and Developmental Disabilities (IDD), Neurosciences, Muscular Dystrophy, Brain Disorders, Rare Diseases, Genetics, Musculoskeletal, Clinical Sciences, Nuclear Medicine & Medical Imaging

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5bb9q6trTest

المؤلفون: Cho, Yoshitake, Tachibana, Shizuko, Hazen, Bethany C, Moresco, James J, Yates, John R, Kok, Bernard, Saez, Enrique, Ross, Robert S, Russell, Aaron P, Kralli, Anastasia

مصطلحات موضوعية: Muscle, Skeletal, Cell Line, Tumor, Animals, Mice, Inbred C57BL, Mice, Knockout, Humans, Mice, Muscular Dystrophies, Muscle Proteins, Exercise Test, Transfection, Physical Conditioning, Animal, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Gene Knockdown Techniques, Young Adult, HEK293 Cells, Endurance Training, CaMKII signaling, Endurance exercise training, Mitochondrial biogenesis, Skeletal muscle, p38 MAPK regulation, Cell Line, Tumor, Preschool, Inbred C57BL, Knockout, Muscle, Skeletal, Physical Conditioning, Animal, Biochemistry and Cell Biology, Physiology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2x1755d0Test

المؤلفون: Petryk, Anna, Polgreen, Lynda E, Grames, Molly, Lowe, Dawn A, Hodges, James S, Karachunski, Peter

المصدر: Muscle & Nerve. 55(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Neurosciences, Rare Diseases, Brain Disorders, Musculoskeletal, Adolescent, Adult, Bone Density, Child, Female, Follow-Up Studies, Humans, Male, Muscle Strength, Muscle Strength Dynamometer, Muscle, Skeletal, Muscular Dystrophies, Pilot Projects, Time Factors, Tomography, X-Ray Computed, Vibration, Walking, Young Adult, Becker muscular dystrophy, Duchenne muscular dystrophy, myometry, pQCT, timed function test, vibration, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3jh7b7xcTest

المؤلفون: Jensen, Braden S, Willer, Tobias, Saade, Dimah N, Cox, Mary O, Mozaffar, Tahseen, Scavina, Mena, Stefans, Vikki A, Winder, Thomas L, Campbell, Kevin P, Moore, Steven A, Mathews, Katherine D

المصدر: Human Mutation. 36(12)

مصطلحات موضوعية: Pediatric, Clinical Research, Rare Diseases, Muscular Dystrophy, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Genetics, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Adolescent, Alleles, Biopsy, Brain, Child, Child, Preschool, Dystroglycans, Female, Genetic Association Studies, Heterozygote, Humans, Infant, Magnetic Resonance Imaging, Male, Muscle, Skeletal, Muscular Dystrophies, Mutation, Nucleotidyltransferases, Phenotype, Young Adult, GMPPB, dystroglycanopathy, limb-girdle muscular dystrophy, congenital muscular dystrophy, congenital myasthenic syndrome, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2873v7z5Test

المؤلفون: Spurney, Christopher, McCaffrey, Francis, Cnaan, Avital, Morgenroth, Lauren, Ghelani, Sunil, Gordish-Dressman, Heather, Arrieta, Adrienne, Connolly, Anne, Lotze, Timothy, Leshner, Robert, Clemens, Paula, McDonald, Craig

المصدر: Journal of the American Society of Echocardiography. 28(8)

مصطلحات موضوعية: Cardiac strain, Cardiomyopathy, Echocardiography, Muscular dystrophy, Adolescent, Algorithms, Cardiomyopathies, Child, Echocardiography, Feasibility Studies, Female, Humans, Image Enhancement, Image Interpretation, Computer-Assisted, Male, Muscular Dystrophies, Observer Variation, Reproducibility of Results, Sensitivity and Specificity, Ventricular Dysfunction, Left

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8v38z556Test

المؤلفون: Jacobs M. B., James M. K., Lowes L. P., Alfano L. N., Eagle M., Muni Lofra R., Moore U., Feng J., Rufibach L. E., Rose K., Duong T., Bello L., Pedrosa-Hernandez I., Holsten S., Sakamoto C., Canal A., Sanchez-Aguilera Praxedes N., Thiele S., Siener C., Vandevelde B., DeWolf B., Maron E., Guglieri M., Hogrel J. -Y., Blamire A. M., Carlier P. G., Spuler S., Day J. W., Jones K. J., Bharucha-Goebel D. X., Salort-Campana E., Pestronk A., Walter M. C., Paradas C., Stojkovic T., Mori-Yoshimura M., Bravver E., Diaz-Manera J., Pegoraro E., Mendell J. R., Mayhew A. G., Straub V.

المساهمون: Jacobs, M. B., James, M. K., Lowes, L. P., Alfano, L. N., Eagle, M., Muni Lofra, R., Moore, U., Feng, J., Rufibach, L. E., Rose, K., Duong, T., Bello, L., Pedrosa-Hernandez, I., Holsten, S., Sakamoto, C., Canal, A., Sanchez-Aguilera Praxedes, N., Thiele, S., Siener, C., Vandevelde, B., Dewolf, B., Maron, E., Guglieri, M., Hogrel, J. -Y., Blamire, A. M., Carlier, P. G., Spuler, S., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Pestronk, A., Walter, M. C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz-Manera, J., Pegoraro, E., Mendell, J. R., Mayhew, A. G., Straub, V.

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Aged, 80 and over, Child, Clinical Trials as Topic, Cohort Studie, Disease Progression, Female, Human, Longitudinal Studie, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle, Psychometric, Treatment Outcome, Young Adult

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33576057; info:eu-repo/semantics/altIdentifier/wos/WOS:000621809900001; volume:89; issue:5; firstpage:967; lastpage:978; numberofpages:12; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11577/3395004Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101597341

الإتاحة: https://doi.org/10.1002/ana.26044Test
http://hdl.handle.net/11577/3395004Test

المؤلفون: Jacobs, M.B., James, Meredith K, Lowes, Linda P, Alfano, Lindsay N, Eagle, M., Muni Lofra, R., Moore, U., Feng, J., Rufibach, L.E., Rose, K., Duong, T., Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, C., Canal, Aurélie, Sanchez-Aguilera Práxedes, N., Thiele, S., Siener, C., Vandevelde, B., DeWolf, Brittney, Maron, E., Guglieri, M., Hogrel, J.Y., Blamire, Andrew, Carlier, Pierre G, Spuler, S., Day, John W, Jones, K.J., Bharucha-Goebel, Diana, Salort-Campana, E., Pestronk, Alan, Walter, Maggie C, Paradas, C., Stojkovic, T., Mori-Yoshimura, Madoka, Bravver, Elena, Diaz-Manera, Jordi, Pegoraro, Elena, Mendell, J. R., Mayhew, A.G., Straub, Volker

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Aged, 80 and over, Child, Clinical Trials as Topic, Cohort Studies, Disease Progression, Female, Humans, Longitudinal Studies, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle, Psychometrics, Treatment Outcome, Young Adult

وصف الملف: application/pdf

العلاقة: Annals of neurology; Vol. 89 Núm. 5 (may 2021), p. 967-978; https://ddd.uab.cat/record/271994Test; urn:10.1002/ana.26044; urn:oai:ddd.uab.cat:271994; urn:scopus_id:85101597341; urn:pmid:33576057; urn:articleid:15318249v89n5p967

الإتاحة: https://ddd.uab.cat/record/271994Test

المؤلفون: Moore, Ursula, Gordish, Heather, Diaz-Manera, Jordi, James, Meredith K, Mayhew, Anna G, Guglieri, Michela, Fernandez-Torron, Roberto, Rufibach, Laura E, Feng, Jia, Blamire, Andrew M, Carlier, Pierre G, Spuler, Simone, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R, Bushby, Kate, Straub, Volker, Jain COS Consortium

مصطلحات موضوعية: [16] Clinical neurology examination, [176] All neuromuscular disease, [185] Muscle disease, [21] Clinical trials methodology, [54] Cohort study, Adolescent, Adult, Child, Preschool, Disease Progression, Distal Myopathies, Female, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Middle Aged, Muscle Weakness, Muscular Atrophy, Muscular Dystrophies, Limb-Girdle, Phenotype, Young Adult

العلاقة: http://hdl.handle.net/10668/17205Test; http://www.nmd-journal.com/article/S0960896621000109/pdfTest

الإتاحة: https://doi.org/10.1016/j.nmd.2021.01.009Test
http://hdl.handle.net/10668/17205Test
http://www.nmd-journal.com/article/S0960896621000109/pdfTest