المؤلفون: Eugenio Mercuri, C. McDonald, Shannon Marraffino, Sarah P. Sherlock, Jean K. Mah, C. Tian, Russell J. Butterfield, Vivek S. Purohit, Kathryn R. Wagner, Michela Guglieri, Hoda Abdel-Hamid, Enrico Bertini, J. Statland, Peter I. Karachunski, Michael Binks, Craig Campbell, Alesia Sadosky, Lawrence Charnas, Brenda L. Wong, Jeffrey P. Palmer, Yasuhiro Takeshima, Chiara Fiorillo, Anna Kostera-Pruszczyk, Francesco Muntoni

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/86759Test

الإتاحة: https://doi.org/10.1016/j.nmd.2021.01.001Test
https://www.openaccessrepository.it/record/86759Test

المؤلفون: John W. Day, Mar Tulinius, Alan Pestronk, Tina Duong, Tulio E. Bertorini, Alberto Dubrovsky, Nanette C. Joyce, Anne M. Connolly, Hanna Kolski, Lauren P. Morgenroth, Hoda Abdel-Hamid, Ksenija Gorni, Craig M. McDonald, Erik K Henricson, Erik Landfeldt, Yoram Nevo, Jose Carlo, Sherilyn W. Driscoll, Laura McAdam, S. Chidambaranathan, Paula R. Clemens, Avital Cnaan, Jean Teasley, W. Douglas Biggar, Joel Iff, Andrew J. Kornberg, Nancy L. Kuntz, E. Henricson, Jean K. Mah, Carolina Tesi-Rocha, Robert T. Leshner, Mathula Thangarajh, Richard D. Webster, V. Vishwanathan, Monique M. Ryan, John B. Bodensteiner, Timothy Lotze, Richard T. Abresch, Peter I. Karachunski

المصدر: Value Health

مصطلحات موضوعية: medicine.medical_specialty, Neuromuscular disease, Adolescent, Psychometrics, Duchenne muscular dystrophy, Population, Pediatrics, Article, Quality of life, Surveys and Questionnaires, medicine, Humans, Child, education, education.field_of_study, Rasch model, business.industry, Health Policy, Public Health, Environmental and Occupational Health, medicine.disease, Muscular Dystrophy, Duchenne, Child, Preschool, Quality of Life, Physical therapy, Patient-reported outcome, business, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd36dd2d6151eb55eab84c122ed70a8Test
https://doi.org/10.1016/j.jval.2021.05.016Test

المؤلفون: Heidi L. Moline MD, Peter I. Karachunski MD, Anna Strain PhD, Jayne Griffith MA, MPH, Cynthia Kenyon MPH, Mark R. Schleiss MD

المصدر: Child Neurology Open, Vol 5 (2018)

مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://doi.org/10.1177/2329048X17751526Test; https://doaj.org/toc/2329-048XTest; https://doaj.org/article/e70d4d76b5b9444c95cb06e79075fe40Test

الإتاحة: https://doi.org/10.1177/2329048X17751526Test
https://doaj.org/article/e70d4d76b5b9444c95cb06e79075fe40Test

المؤلفون: Peter I. Karachunski, Ann Van Heest, Elise Palzer, Paul J. Orchard

المصدر: Molecular Genetics and Metabolism. 138:107177

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::30f4755acd2732ec8c7f27e7ee13bc2cTest
https://doi.org/10.1016/j.ymgme.2022.107177Test

المؤلفون: Eugenio Mercuri, Jean K. Mah, C. Tian, Hoda Abdel-Hamid, Craig M. McDonald, Craig Campbell, J. Statland, Michael Binks, Alesia Sadosky, Lawrence Charnas, Jeffrey P. Palmer, Michela Guglieri, Brenda L. Wong, Francesco Muntoni, Yasuhiro Takeshima, Kathryn R. Wagner, Sarah P. Sherlock, Shannon Marraffino, Anna Kostera-Pruszczyk, Enrico Bertini, Peter I. Karachunski, Russell J. Butterfield, Vivek S. Purohit, Chiara Fiorillo

المصدر: Paediatrics Publications

مصطلحات موضوعية: Male, Duchenne muscular dystrophy, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Antibodies, Monoclonal, Humanized, 03 medical and health sciences, 0302 clinical medicine, Outcome Assessment, Health Care, medicine, Humans, In patient, Treatment Failure, Child, Genetics (clinical), business.industry, Myostatin, medicine.disease, Muscular Dystrophy, Duchenne, myostatin inhibitor, 030104 developmental biology, Neurology, 4-stair climb, Pediatrics, Perinatology and Child Health, Ambulatory, Exercise Test, Neurology (clinical), Open label, domagrozumab, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3cbadea127d4ce51f63126e99cb373Test
https://doi.org/10.1016/j.nmd.2020.05.002Test

المؤلفون: Amber Begtrup, Aljouhra AlHargan, Stefan T. Arold, Anoud Abdulmalik Albader, Peter I. Karachunski, Rawan Almass, Laila AlQuait, Tahsin Stefan Barakat, Ibrahim H. Kaya, Aida M. Bertoli-Avella, Eva Medico Salsench, Dilek Colak, Namik Kaya, Monica Segura Castell, Jude Howaidi, Aziza Chedrawi, Jacie Ihinger, Peter Bauer, Jumanah Al-Sufayan, Mohammed A. AlMuhaizea

المساهمون: Clinical Genetics

المصدر: Acta Neuropathologica, 139(4), 791-794. Springer-Verlag

مصطلحات موضوعية: Male, 0301 basic medicine, Vesicular Transport Proteins, Library science, Genetics department, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Human disease, Political science, Humans, Progressive encephalopathy, Child, Erasmus+, Disability research, Brain Diseases, Epilepsy, Movement Disorders, Pedigree, 030104 developmental biology, Research centre, Child, Preschool, Mutation, Microcephaly, Female, Neurology (clinical), 030217 neurology & neurosurgery, Sequencing Core

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab78f55b8d441a122f8ae59dbeddd67Test
https://doi.org/10.1007/s00401-020-02128-8Test

المؤلفون: Daniel Cortez, Meghan E. Ryan, Kelly R. Dietz, Bryce A. Binstadt, Peter I. Karachunski

المصدر: BMC Rheumatology, Vol 5, Iss 1, Pp 1-4 (2021)
BMC Rheumatology

مصطلحات موضوعية: medicine.medical_specialty, Pathology, lcsh:Diseases of the musculoskeletal system, Heart block, business.industry, Autoantibody, Interstitial lung disease, Arthritis, medicine.disease, Rheumatology, Juvenile idiopathic inflammatory myopathy, Inflammatory myopathy, Prednisone, Internal medicine, Case report, medicine, lcsh:RC925-935, business, Anti-melanoma differentiation-associated protein 5, Myositis, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183fdc97f2865bcb0654047ef2a4b4fcTest
https://doi.org/10.1186/s41927-021-00180-9Test

المؤلفون: Alexie A. Larson, Peter I. Karachunski, Dawn A. Lowe, John Holm, James M. Ervasti, Cory W. Baumann, Preston M. McCourt, Bailey H. Kemp, Angus Lindsay

المصدر: Acta physiologica (Oxford, England)REFERENCES. 231(4)

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Utrophin, Physiology, Duchenne muscular dystrophy, 030204 cardiovascular system & hematology, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Dihydrobiopterin, Internal medicine, medicine, Animals, Humans, Muscular dystrophy, Muscle, Skeletal, Tetrahydrobiopterin deficiency, biology, business.industry, Skeletal muscle, Tetrahydrobiopterin, musculoskeletal system, medicine.disease, Biopterin, Muscular Dystrophy, Duchenne, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, chemistry, cardiovascular system, biology.protein, Mice, Inbred mdx, business, circulatory and respiratory physiology, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7bd6951e7dcb353ecbea1f38e94c922Test
https://pubmed.ncbi.nlm.nih.gov/33580591Test

المؤلفون: Peter I. Karachunski, James M. Ervasti, Angus Lindsay, Preston M. McCourt, Dawn A. Lowe

المصدر: Free Radical Biology and Medicine. 129:364-371

مصطلحات موضوعية: Male, 0301 basic medicine, mdx mouse, Utrophin, Duchenne muscular dystrophy, Biochemistry, Dystrophin, Mice, chemistry.chemical_compound, 0302 clinical medicine, Enzyme Inhibitors, Muscular dystrophy, Xanthine oxidase inhibitor, biology, Chemistry, musculoskeletal system, Creatinine, Muscle Contraction, medicine.drug, musculoskeletal diseases, Xanthine Oxidase, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, medicine.drug_class, Allopurinol, Oxypurinol, Article, Young Adult, 03 medical and health sciences, Sarcoglycans, Physiology (medical), Internal medicine, medicine, Animals, Humans, Muscle, Skeletal, Xanthine oxidase, Muscular Dystrophy, Animal, medicine.disease, Xanthopterin, Muscular Dystrophy, Duchenne, 030104 developmental biology, Endocrinology, Gene Expression Regulation, Case-Control Studies, Mice, Inbred mdx, biology.protein, Tyrosine, Biomarkers, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a6a84afb285b06cbf09442047672beTest
https://doi.org/10.1016/j.freeradbiomed.2018.10.404Test

المؤلفون: Alison M. Muir, Dianne Laboy Cintrón, Katherine H. Kim, Amber Begtrup, Peter I. Karachunski, Almuth Caliebe, Heather C Mefford, Amy Lacroix, J. Lawrence Merritt, Kirsty McWalter, Angela Sun, Sharon F. Suchy, Barbara K. Burton, Ingo Helbig, René Santer, Joline C. Dalton, Dmitriy Niyazov, Rachel Westman, Ganka Douglas, Leah Fleming, Hiltrud Muhle, Kristin G. Monaghan, Alice Basinger, Katherine L. Helbig, Jenny Thies, Kolja Becker, Manuela Pendziwiat, Can Ficicioglu, Megan T. Cho, Jennifer N. Dines, Francisca Millan, Katie Golden-Grant

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Genotype, Developmental Disabilities, Encephalopathy, developmental delay DNA copy-number variation, 030105 genetics & heredity, Compound heterozygosity, Bioinformatics, Article, 03 medical and health sciences, Epilepsy, Genotype-phenotype distinction, Seizures, Intellectual Disability, Intellectual disability, medicine, Humans, Exome, Family, intragenic deletion, Child, Genetics (clinical), Exome sequencing, Brain Diseases, business.industry, Aryl Hydrocarbon Receptor Nuclear Translocator, Correction, medicine.disease, Phenotype, Pedigree, 3. Good health, 030104 developmental biology, Child, Preschool, epilepsy, Female, business, exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c07433565d53e7c3497bad478e043fbbTest
http://europepmc.org/articles/PMC6752277Test