المؤلفون: Lutz, Maggie, Levanti, Miranda, Karns, Rebekah, Gourdon, Genevieve, Lindquist, Diana, Timchenko, Nikolai, A, Timchenko, Lubov

المساهمون: Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

المصدر: ISSN: 1661-6596.

مصطلحات موضوعية: L Myotonic Dystrophy (DM1) congenital Myotonic Dystrophy development of therapy myotonia brain atrophy GSK3β CUGBP1 HSA LR mice DMSXL mice GSK3 inhibitor, L Myotonic Dystrophy (DM1), congenital Myotonic Dystrophy, development of therapy, myotonia, brain atrophy, GSK3β, CUGBP1, HSA LR mice, DMSXL mice, GSK3 inhibitor, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-04259888; https://hal.sorbonne-universite.fr/hal-04259888Test; https://hal.sorbonne-universite.fr/hal-04259888/documentTest; https://hal.sorbonne-universite.fr/hal-04259888/file/ijms-24-10650.pdfTest

الإتاحة: https://doi.org/10.3390/ijms241310650Test
https://hal.sorbonne-universite.fr/hal-04259888Test
https://hal.sorbonne-universite.fr/hal-04259888/documentTest
https://hal.sorbonne-universite.fr/hal-04259888/file/ijms-24-10650.pdfTest

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

الإتاحة: https://doi.org/10.3390/ijms241310650Test

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

الوصول الحر: https://doaj.org/article/3fb4b718270d4f3b9aae0d632cd63a13Test

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10151101/1/fped-10-910660.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10151101Test/

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

الوصول الحر: https://doaj.org/article/e1ba6a7e8dba402aa669760d8147325bTest

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

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

الوصول الحر: https://doaj.org/article/75452f87c1a741b89d935c5864036dceTest

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

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/

الإتاحة: 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/

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

العلاقة: https://figshare.com/articles/figure/Image_3_Cardiac_Manifestations_of_Myotonic_Dystrophy_in_a_Pediatric_Cohort_pdf/20034815Test

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