المؤلفون: Masahito Watanabe, Hitomaru Miyamoto, Kazutoshi Okamoto, Kazuaki Nakano, Hitomi Matsunari, Kanako Kazuki, Koki Hasegawa, Ayuko Uchikura, Shuko Takayanagi, Kazuhiro Umeyama, Yosuke Hiramuki, Elisabeth Kemter, Nikolai Klymuik, Mayuko Kurome, Barbara Kessler, Eckhard Wolf, Yasuhiro Kazuki, Hiroshi Nagashima

المصدر: Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 444-453 (2023)

مصطلحات موضوعية: MT: Delivery Strategies, human artificial chromosome, cloned pig, Duchenne muscular dystrophy, somatic cell cloning, dystrophin gene knockout pig, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253123001944; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/7a8c635119da410397f678e585a6364e

المؤلفون: Binyamin Eisen, Ofer Binah

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 10; Pages: 8657

مصطلحات موضوعية: Duchenne muscular dystrophy, DMD, dystrophin gene, dystrophin protein, human induced pluripotent stem-cell-derived cardiomyocytes, hiPSC-CMs, dilated cardiomyopathy, DCM, arrhythmias, depressed cardiac function

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms24108657

الاتاحة: https://doi.org/10.3390/ijms24108657

المؤلفون: Luca Zaninović, Marko Bašković, Davor Ježek, Ana Katušić Bojanac

المصدر: Diagnostics; Volume 13; Issue 2; Pages: 183

مصطلحات موضوعية: non-invasive prenatal testing, cell-free DNA, Duchenne muscular dystrophy, dystrophin gene, single gene disorder, X-linked disease, relative haplotype dosage, relative mutation dosage

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics13020183

الاتاحة: https://doi.org/10.3390/diagnostics13020183

المؤلفون: Manisha Goyal, Ashok Gupta, Kamlesh Agarwal, Seema Kapoor, Somesh Kumar

المصدر: Annals of Indian Academy of Neurology, Vol 24, Iss 6, Pp 873-878 (2021)

مصطلحات موضوعية: deletion, duchenne muscular dystrophy, dystrophin gene, muscular dystrophy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=6;spage=873;epage=878;aulast=Goyal; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/a48b5b720ef44734b59fb84bb95a8bf1

المؤلفون: Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu, Zhichun Feng

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Duchenne muscular dystrophy, Prenatal diagnosis, Dystrophin gene, Next-generation sequencing, Mosaicism, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-01157-0; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/51f19fdca79f4faca7efe17698aa79c9

المؤلفون: Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu, Zhengfeng Xu

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Duchenne muscular dystrophy, Dystrophin gene, Multiplex ligation-dependent probe amplification, Next-generation sequencing, Prenatal diagnosis, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0912-x; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/5603f10269084f1fa9cc3f07f8f6069d

المؤلفون: Ery Kus Dwianingsih, Meydita Fuzia Putri Insani, Linda Pratiwi, Irianiwati Widodo, Rusdy Ghazali Malueka

المصدر: Paediatrica Indonesiana, Vol 59, Iss 5, Pp 257-64 (2019)

مصطلحات موضوعية: dystrophin gene, dmd, bmd, ck, immunohistochemistry, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2187; https://doaj.org/toc/0030-9311; https://doaj.org/toc/2338-476X

URL الوصول: https://doaj.org/article/5f9b294ab81b45118f2359ff129359ae

المؤلفون: Kourakis, S, Timpani, Cara, Campelj, Dean G, Hafner, P, Gueven, Nuri, Fischer, Dirk, Rybalka, Emma

مصطلحات موضوعية: 0601 Biochemistry and Cell Biology, 1116 Medical Physiology, Institute for Health and Sport, pharmacological corticosteroid therapy, Duchenne Muscular Dystrophy, mutations, dystrophin gene, truncated dystrophin protein

وصف الملف: text

Relation: https://vuir.vu.edu.au/42092/; https://doi.org/10.1186/s13023-021-01758-9; https://vuir.vu.edu.au/42092/5/s13023-021-01758-9.pdf; Kourakis, S, Timpani, Cara orcid:0000-0003-4567-4319 , Campelj, Dean G, Hafner, P, Gueven, Nuri, Fischer, Dirk and Rybalka, Emma orcid:0000-0002-4854-0036 (2021) Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better? Orphanet Journal of Rare Diseases, 16 (1). ISSN 1750-1172 (In Press)

الاتاحة: https://vuir.vu.edu.au/42092/
https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01758-9
https://doi.org/10.1186/s13023-021-01758-9
https://vuir.vu.edu.au/42092/5/s13023-021-01758-9.pdf

المؤلفون: Nasser A. Elhawary, Essam H. Jiffri, Samira Jambi, Ahmad H. Mufti, Anas Dannoun, Hassan Kordi, Asim Khogeer, Osama H. Jiffri, Abdelrahman N. Elhawary, Mohammed T. Tayeb

المصدر: Human Genomics, Vol 12, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: Duchenne muscular dystrophy, Dystrophin gene, Large rearrangements, Frame shift, MLPA, Saudi community, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40246-018-0152-8; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/a0ad8400a7a945fd9970a2e02136f578

المؤلفون: Atehortúa, Sara C., Lugo, Luz H., Ceballos, Mateo, Orozco, Esteban, Castro, Paula A., Arango, Juan C., Mateus, Heidi E.

المصدر: instname:Universidad del Rosario ; reponame:Repositorio Institucional EdocUR

مصطلحات موضوعية: Creatine kinase, Dystrophin, Article, Becker muscular dystrophy, Colombia, Cost effectiveness analysis, Decision tree, Diagnostic procedure, Diagnostic test accuracy study, Duchenne muscular dystrophy, Dystrophin gene, Electromyography, False negative result, Gene, Health care cost, Health care system, Human, Immunohistochemistry, Laboratory test, Medical expert, Multiplex ligation dependent probe amplification, Multiplex polymerase chain reaction, Priority journal, Probability, Sensitivity and specificity, Sequence analysis, Systematic review, Western blotting, Cost benefit analysis, Economics

وصف الملف: application/pdf

Relation: Value in Health Regional Issues; Vol. 17; Value in Health Regional Issues, ISSN:22121099, 22121102, Vol.17,(2018); pp. 1-6; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85043400151&doi=10.1016%2fj.vhri.2017.10.003&partnerID=40&md5=801e0345a7dea85abc3aee5e1508dbf8; https://doi.org/10.1016/j.vhri.2017.10.003; https://repository.urosario.edu.co/handle/10336/23469

الاتاحة: https://doi.org/10.1016/j.vhri.2017.10.003
https://repository.urosario.edu.co/handle/10336/23469

المؤلفون: Alpa Sidhu, Michael Hankerd, Kelly Kennelly, Melissa Kristofice, Salah Ebrahim

المصدر: Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 199-204 (2015)

مصطلحات موضوعية: CMT1A, DMD, PMP22, Combined microduplications, Dystrophin gene, Array comparative genomic hybridization (array CGH), Chromosomal microarray, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S111086301400130X; https://doaj.org/toc/1110-8630

URL الوصول: https://doaj.org/article/e8fd60b51f92434cb0ff81b180c59a3b

المؤلفون: Cinrg-Dnhs Investigators, Mathula Thangarajh, Heather Gordish-Dressman, Luca Bello

المصدر: Muscle Nerve

مصطلحات موضوعية: Duchenne muscular dystrophy, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Physiology, genotype, Motor function, Article, Dystrophin, Cellular and Molecular Neuroscience, Physiology (medical), Internal medicine, medicine, Humans, Longitudinal Studies, Muscular Dystrophy, Prospective Studies, Mobility Limitation, Child, Preschool, Prospective cohort study, motor function, Child, Preschool, Female, Follow-Up Studies, Genetic Variation, Muscular Dystrophy, Duchenne, biology, business.industry, Duchenne, medicine.disease, Dystrophin gene, biology.protein, Cardiology, Corticosteroid use, Neurology (clinical), business, Natural history study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69c776b99a38bf19962d80d63e91a080
https://doi.org/10.1002/mus.27371

المؤلفون: Mandava V Rao, Gaurang M Sindhav, Jitendra J Mehta

المصدر: Annals of Indian Academy of Neurology, Vol 17, Iss 3, Pp 303-307 (2014)

مصطلحات موضوعية: Duchenne/Becker muscular dystrophy, dystrophin gene, exon deletion, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=3;spage=303;epage=307;aulast=Rao; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/a8dbc527dc74474883e47763f9bbd507

المؤلفون: Kay E. Davies, Vratko Himič

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Genetic enhancement, Duchenne muscular dystrophy, Diseases, Review Article, Bioinformatics, Viral vector, 03 medical and health sciences, 0302 clinical medicine, Genome editing, Genetics, Medicine, Animals, Humans, Genetics (clinical), 030304 developmental biology, Gene Editing, 0303 health sciences, biology, business.industry, Structural integrity, Genetic Therapy, medicine.disease, Dystrophin gene, Exon skipping, Muscular Dystrophy, Duchenne, biology.protein, business, Dystrophin, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d9959ad1b61b09d89ded7a8e6d4698
http://europepmc.org/articles/PMC8440545

المؤلفون: S E Aliyeva, E M Rasulov, A. M. Mammadov, S. A. Aghayeva, N. A. Badalova, A K Mammadbayli

المصدر: NATIONAL JOURNAL OF NEUROLOGY. 1:42-46

مصطلحات موضوعية: Biology, Molecular biology, Dystrophin gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::04e1acef345fd297641869437d661e39
https://doi.org/10.28942/nnj.v1i17.294

المؤلفون: Abadi Noureddine, Hamdouche Nadira, Mahdi Djahida, Satta Dalila, Sifi Karima, Sifi Yamina, Dalichaouche Imen, M’ Zahem Abderrahim

المصدر: South Asian Journal of Experimental Biology. 10:176-182

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, medicine.disease, University hospital, Bioinformatics, Genetic analysis, Dystrophin gene, Phenotype, Calf hypertrophy, Molecular analysis, Exon, medicine, Muscular dystrophy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e82fc2231274354bcbc872955aaf4a9c
https://doi.org/10.38150/sajeb.10(3).p176-182

المؤلفون: Sohita Dhillon

المصدر: Drugs. 80:1027-1031

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Morpholino, Duchenne muscular dystrophy, Molecular Conformation, Oligonucleotides, Bioinformatics, 03 medical and health sciences, Exon, 0302 clinical medicine, Humans, Medicine, Pharmacology (medical), In patient, Drug Approval, biology, business.industry, Oligonucleotides, Antisense, medicine.disease, Dystrophin gene, Muscular Dystrophy, Duchenne, Clinical trial, 030220 oncology & carcinogenesis, Antisense oligonucleotides, biology.protein, Dystrophin, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbff6b04dccad5b88fc8bb79b663ff51
https://doi.org/10.1007/s40265-020-01339-3

المؤلفون: Silke Berger, Jeanette Rientjes, Joachim Berger, Michelle Meilak, Peter D. Currie, Mei Li

المصدر: Journal of Cellular and Molecular Medicine

مصطلحات موضوعية: Duchenne muscular dystrophy, musculoskeletal diseases, 0301 basic medicine, muscle, PTC124, Mutant, Pharmacology, dystrophin, 03 medical and health sciences, chemistry.chemical_compound, Ataluren, 0302 clinical medicine, Animals, Protein Isoforms, Medicine, RNA, Messenger, Muscle, Skeletal, Zebrafish, Oxadiazoles, biology, business.industry, Homozygote, Translation (biology), Exons, Original Articles, Cell Biology, zebrafish, medicine.disease, biology.organism_classification, Dystrophin gene, Stop codon, Phenotype, 030104 developmental biology, chemistry, Codon, Nonsense, 030220 oncology & carcinogenesis, Mutation, dmd, biology.protein, Molecular Medicine, Original Article, business, Dystrophin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ea61eaf822418f83b541ddb9ed2e2fa
https://doi.org/10.1111/jcmm.15319

المؤلفون: Chien-Hua Wang, Wen-Chen Liang, Yi-Ning Su, Wen-Chieh Lee, Ching-Chyuan Su, Yuh-Jyh Jong

المصدر: Pediatrics and Neonatology, Vol 53, Iss 6, Pp 374-377 (2012)

مصطلحات موضوعية: Duchenne muscular dystrophy, dystrophin gene, dystrophinopathy, manifesting carriers, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1875957212001106; https://doaj.org/toc/1875-9572

URL الوصول: https://doaj.org/article/ca9e39473d744c668ab91ceb01230725

المؤلفون: M. Meregalli, Y. Torrente, S. Maciotta, V. Angeloni

المساهمون: M. Meregalli, S. Maciotta, V. Angeloni, Y. Torrente

مصطلحات موضوعية: DMD, Dystrophin gene, frame-shift mutation, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/27515321; info:eu-repo/semantics/altIdentifier/wos/WOS:000381819900002; volume:17; issue:1; numberofpages:61; journal:BMC MEDICAL GENETICS; http://hdl.handle.net/2434/443811; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991834356

الاتاحة: http://hdl.handle.net/2434/443811
https://doi.org/10.1186/s12881-016-0318-y