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1دورية أكاديمية
المؤلفون: Maggie Lutz, Miranda Levanti, Rebekah Karns, Genevieve Gourdon, Diana Lindquist, Nikolai A. Timchenko, Lubov Timchenko
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 13; Pages: 10650
مصطلحات موضوعية: Myotonic Dystrophy (DM1), congenital Myotonic Dystrophy, development of therapy, myotonia, brain atrophy, GSK3β, CUGBP1, HSA LR mice, DMSXL mice, GSK3 inhibitor
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms241310650Test
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2دورية أكاديمية
المؤلفون: Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: myotonic dystrophy (DM1), congenital myotonic dystrophy, pediatric population, neuromuscular disorder, cardiac conduction disease, electrocardiographic abnormalities, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.910660/fullTest; https://doaj.org/toc/2296-2360Test
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3دورية أكاديمية
المؤلفون: Brunet Garcia, Laia, Hajra, Ankita, Field, Ella, Wacher, Joseph, Walsh, Helen, Norrish, Gabrielle, Manzur, Adnan, Muntoni, Francesco, Munot, Pinki, Robb, Stephanie, Quinlivan, Rosaline, Scoto, Mariacristina, Baranello, Giovanni, Sarkozy, Anna, Starling, Luke, Kaski, Juan Pablo, Cervi, Elena
المصدر: Frontiers in Pediatrics , 10 , Article 910660. (2022)
مصطلحات موضوعية: myotonic dystrophy (DM1), congenital myotonic dystrophy, pediatric population, neuromuscular disorder, cardiac conduction disease, electrocardiographic abnormalities
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10151101/1/fped-10-910660.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10151101Test/
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4دورية أكاديمية
المؤلفون: Junyang Wang, Ming Liu, Wenjie Shang, Zhongqin Chen, Guoping Peng
المصدر: BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: Myotonic dystrophy (DM1), Normal pressure hydrocephalus (NPH), Genetic testing, Muscular dystrophy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
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5
المؤلفون: Timchenko, Maggie Lutz, Miranda Levanti, Rebekah Karns, Genevieve Gourdon, Diana Lindquist, Nikolai A. Timchenko, Lubov
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 13; Pages: 10650
مصطلحات موضوعية: Myotonic Dystrophy (DM1), congenital Myotonic Dystrophy, development of therapy, myotonia, brain atrophy, GSK3β, CUGBP1, HSALR mice, DMSXL mice, GSK3 inhibitor
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::e3810f8c5e11e4aafb5250a2331dc8dfTest
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6دورية أكاديمية
المؤلفون: Sylvia Nieuwenhuis, Kees Okkersen, Joanna Widomska, Paul Blom, Peter A. C. 't Hoen, Baziel van Engelen, Jeffrey C. Glennon
المصدر: Frontiers in Neurology, Vol 10 (2019)
مصطلحات موضوعية: insulin, myotonic dystrophy (DM1), insulin-like growth factor 1 (IGF1), metformin, diabetes type 2, insulin resistance, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.01229/fullTest; https://doaj.org/toc/1664-2295Test
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7دورية أكاديمية
المؤلفون: Kalra, Spandan, Montanaro, Federica, Denning, Chris
مصطلحات موضوعية: Human embryonic stem cells, human induced pluripotent stem cells, Cas9/CRISPR genome editing, cardiomyocytes, Duchenne muscular dystrophy (DMD), myotonic dystrophy (DM1), disease modelling, exon skipping, gene therapy
العلاقة: https://nottingham-repository.worktribe.com/output/797648Test; Journal of Neuromuscular Diseases; Volume 3; Issue 3; Pagination 309-332; https://nottingham-repository.worktribe.com/file/797648/1/JNM%20Published%20Sept%202016.pdfTest
الإتاحة: https://doi.org/10.3233/JND-150133Test
https://nottingham-repository.worktribe.com/file/797648/1/JNM%20Published%20Sept%202016.pdfTest
https://nottingham-repository.worktribe.com/output/797648Test -
8دورية أكاديمية
المؤلفون: Kalra, S, Montanaro, F, Denning, C
المصدر: Journal of Neuromuscular Diseases , 3 (3) pp. 309-332. (2016)
مصطلحات موضوعية: Human embryonic stem cells, human induced pluripotent stem cells, Cas9/CRISPR genome editing, cardiomyocytes, Duchenne muscular dystrophy (DMD), myotonic dystrophy (DM1), disease modelling, exon skipping, gene therapy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1503898/1/Kalra%20et%20al%202016%20Can%20human%20pluripotent%20stem%20cell-derived%20cardiomyocytes%20advance%20understanding%20of%20muscular%20dystrophies%20VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1503898Test/
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9صورة
المؤلفون: Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, myotonic dystrophy (DM1), congenital myotonic dystrophy, pediatric population, neuromuscular disorder, cardiac conduction disease, electrocardiographic abnormalities
الإتاحة: https://doi.org/10.3389/fped.2022.910660.s003Test
https://figshare.com/articles/figure/Image_3_Cardiac_Manifestations_of_Myotonic_Dystrophy_in_a_Pediatric_Cohort_pdf/20034815Test -
10
المؤلفون: Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, myotonic dystrophy (DM1), congenital myotonic dystrophy, pediatric population, neuromuscular disorder, cardiac conduction disease, electrocardiographic abnormalities
الإتاحة: https://doi.org/10.3389/fped.2022.910660.s009Test
https://figshare.com/articles/dataset/Table_6_Cardiac_Manifestations_of_Myotonic_Dystrophy_in_a_Pediatric_Cohort_docx/20034833Test