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1دورية أكاديمية
المؤلفون: Emma M. J. Passchier, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Rogier Min
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: megalencephalic leukoencephalopathy with subcortical cysts, MLC1, GlialCAM, AQP4, GPRC5B, leukodystrophy, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1352947/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Passchier, Emma M.J., Bisseling, Quinty, Helman, Guy, van Spaendonk, Rosalina M.L., Simons, Cas, Olsthoorn, René C.L., van der Veen, Hieke, Abbink, Truus E.M., van der Knaap, Marjo S., Min, Rogier
المصدر: Passchier , E M J , Bisseling , Q , Helman , G , van Spaendonk , R M L , Simons , C , Olsthoorn , R C L , van der Veen , H , Abbink , T E M , van der Knaap , M S & Min , R 2024 , ' Megalencephalic leukoencephalopathy with subcortical cysts : a variant update and review of the literature ' , Frontiers in Genetics , vol. 15 , 1352947 , pp. 1-21 . https://doi.org/10.3389/fgene.2024.1352947Test
مصطلحات موضوعية: AQP4, brain edema, GlialCAM, GPRC5B, leukodystrophy, megalencephalic leukoencephalopathy with subcortical cysts, MLC1
الإتاحة: https://doi.org/10.3389/fgene.2024.1352947Test
https://research.vu.nl/en/publications/912c9472-f989-4afa-9ef4-12c43309f5aaTest
https://hdl.handle.net/1871.1/912c9472-f989-4afa-9ef4-12c43309f5aaTest
http://www.scopus.com/inward/record.url?scp=85187900939&partnerID=8YFLogxKTest
http://www.scopus.com/inward/citedby.url?scp=85187900939&partnerID=8YFLogxKTest -
3دورية أكاديمية
المؤلفون: Clara Mayayo-Vallverdú, Laura Ferigle, Marta Vecino-Pérez, Julián Lara, Virginia Nunes, Raúl Estévez
المصدر: Brain Disorders, Vol 11, Iss , Pp 100079- (2023)
مصطلحات موضوعية: Megalencephalic leukoencephalopathy with subcortical cysts, Myelin, Reverting phenotype, Mutations, MLC1, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666459323000161Test; https://doaj.org/toc/2666-4593Test
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4دورية أكاديمية
المؤلفون: Sönmez, Hafize Emine, Savaş, Merve, Aliyeva, Bülbül, Deniz, Adnan, Güngör, Mesut, Anık, Yonca, Kara, Bülent
المساهمون: Savaş, Merve
مصطلحات موضوعية: Anakinra, Beyin hacimsel çalışmaları, Brain volumetric studies, Subkortikal kistlerle birlikte megalensefalik lökoensefalopati, Megalencephalic leukoencephalopathy with subcortical cysts, MLC1 geni, MLC1 gene
وصف الملف: application/pdf
العلاقة: Pediatric Neurology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Sönmez, H. E., Savaş, M., Aliyeva, B., Deniz, A., Güngör, M., Anık, Y., & Kara, B. (2023). The Effect of Interleukin-1 Antagonists on Brain Volume and Cognitive Function in Two Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts. Pediatric neurology, 144, 72–77. https://doi.org/10.1016/j.pediatrneurol.2023.04.008Test; https://hdl.handle.net/20.500.12900/269Test; 144; 72; 77
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5دورية أكاديمية
المؤلفون: Adrià Pla-Casillanis, Laura Ferigle, Marta Alonso-Gardón, Efren Xicoy-Espaulella, Ekaitz Errasti-Murugarren, Daniela Marazziti, Raúl Estévez
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 10; Pages: 5528
مصطلحات موضوعية: megalencephalic leukoencephalopathy with subcortical cysts, GlialCAM, MLC1, GPRC5B, GPR37L1, GPR37, glia, ion, water homeostasis
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23105528Test
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6دورية أكاديمية
المؤلفون: Masanori Ishikawa, Yoshie Omachi, Noriko Sato, Eiji Nakagawa
المصدر: BMC Psychiatry, Vol 20, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: Megalencephalic leukoencephalopathy with subcortical cysts, MLC1, Bipolar II disorder, Catatonia, Psychiatry, RC435-571
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12888-020-02750-6Test; https://doaj.org/toc/1471-244XTest
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7دورية أكاديمية
المؤلفون: Laura Hartog, Sven Dekeyzer, Stephanie Vanden Bossche
المصدر: Journal of the Belgian Society of Radiology, Vol 105, Iss 1 (2021)
مصطلحات موضوعية: alexander disease, leukodystrophy, canavan disease, megalencephalic leukoencephalopathy with subcortical cysts, macrocephaly, Medical physics. Medical radiology. Nuclear medicine, R895-920
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Faruk INCECİK, Mustafa YILMAZ, Atıl BİŞGİN
المصدر: Cukurova Medical Journal, Vol 44, Pp 598-600 (2019)
مصطلحات موضوعية: megalencephalic leukoencephalopathy with subcortical cysts, cystic fibrosis, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://dergipark.org.tr/tr/pub/cumj/issue/36346/565685?publisher=cuTest; https://doaj.org/toc/2602-3040Test
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9دورية أكاديمية
المؤلفون: Hartog, Laura, Dekeyzer, Sven, Bossche, Stephanie Vanden
المصدر: Journal of the Belgian Society of Radiology; Vol 105, No 1 (2021); 61 ; 2514-8281
مصطلحات موضوعية: Neuroradiology, Alexander disease, leukodystrophy, Canavan disease, megalencephalic leukoencephalopathy with subcortical cysts, macrocephaly
وصف الملف: application/pdf; application/xml
العلاقة: https://www.jbsr.be/jms/article/view/2588/1995Test; https://www.jbsr.be/jms/article/view/2588/1996Test; https://www.jbsr.be/jms/article/downloadSuppFile/2588/10670Test; https://www.jbsr.be/jms/article/downloadSuppFile/2588/10671Test; https://www.jbsr.be/jms/article/downloadSuppFile/2588/10684Test; https://www.jbsr.be/jms/article/view/2588Test
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10دورية أكاديمية
المؤلفون: Dieuwke Maria de Waard, Marianna Bugiani
المصدر: Frontiers in Cellular Neuroscience, Vol 14 (2020)
مصطلحات موضوعية: Aicardi–Goutières syndrome, Alexander disease, astrocytopathies, cellular crosstalk, megalencephalic leukoencephalopathy with subcortical cysts, oculodentodigital dysplasia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fncel.2020.608073/fullTest; https://doaj.org/toc/1662-5102Test
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