المؤلفون: Nicola Balboni, Giorgia Babini, Eleonora Poeta, Michele Protti, Laura Mercolini, Maria Chiara Magnifico, Simona Nicole Barile, Francesca Massenzio, Antonella Pignataro, Federico M. Giorgi, Francesco Massimo Lasorsa, Barbara Monti

المصدر: Cellular & Molecular Biology Letters, Vol 29, Iss 1, Pp 1-26 (2024)

مصطلحات موضوعية: White matter disorder, Mitochondria, Omics analysis, Oligodendrocytes, Neurodevelopment, SLC25A12/aralar1/AGC1 deficiency, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1689-1392Test

الوصول الحر: https://doaj.org/article/7790a48d279b4cc18bdc2e5d13eff545Test

المؤلفون: Liling Dong, Li Shang, Caiyan Liu, Chenhui Mao, Xinying Huang, Shanshan Chu, Bin Peng, Liying Cui, Jing Gao

المصدر: Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Pediatric genetic white matter disorder, Genetic spectrum, ABCD1, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/6546a4afb3884e79af4de74b9a80e4efTest

المؤلفون: Fatima M. Bostanova, Polina G. Tsygankova, Elena A. Larshina, Ilya O. Nagornov, Yulia V. Evseeva, Irina L. Krutikhina, Marina E. Dzhentemirova, Marina N. Kashlakova, Marina S. Petukhova, Inna V. Sharkova, Ekaterina Y. Zakharova

المصدر: Genes, Vol 15, Iss 5, p 615 (2024)

مصطلحات موضوعية: leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), the DARS2 gene, white matter disorder, targeted gene sequencing, next-generation sequencing (NGS), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/5/615Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/791ab53ca76942cca28e2e429ec99479Test

المؤلفون: Balboni, Nicola, Babini, Giorgia, Poeta, Eleonora, Protti, Michele, Mercolini, Laura, Magnifico, Maria Chiara, Barile, Simona Nicole, Massenzio, Francesca, Pignataro, Antonella, Giorgi, Federico M., Lasorsa, Francesco Massimo, Monti, Barbara

المساهمون: Balboni, Nicola, Babini, Giorgia, Poeta, Eleonora, Protti, Michele, Mercolini, Laura, Magnifico, Maria Chiara, Barile, Simona Nicole, Massenzio, Francesca, Pignataro, Antonella, Giorgi, Federico M., Lasorsa, Francesco Massimo, Monti, Barbara

مصطلحات موضوعية: Mitochondria, Neurodevelopment, Oligodendrocyte, Omics analysi, SLC25A12/aralar1/AGC1 deficiency, White matter disorder

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38553684; volume:29; issue:1; journal:CELLULAR AND MOLECULAR BIOLOGY LETTERS; https://hdl.handle.net/11586/466201Test

الإتاحة: https://doi.org/10.1186/s11658-024-00563-zTest
https://hdl.handle.net/11586/466201Test

المؤلفون: Eleonora Poeta, Sabrina Petralla, Giorgia Babini, Brunaldo Renzi, Luigi Celauro, Maria Chiara Magnifico, Simona Nicole Barile, Martina Masotti, Francesca De Chirico, Francesca Massenzio, Luigi Viggiano, Luigi Palmieri, Marco Virgili, Francesco Massimo Lasorsa, Barbara Monti

المصدر: Frontiers in Cellular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: white matter disorder, mitochondria, epigenetics, oligodendrocytes, neurons, SLC25A12/aralar1/AGC1 deficiency, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fncel.2021.773709/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/3c826b154e7040839093fa65e45936ffTest

المؤلفون: Poeta E., Petralla S., Babini G., Renzi B., Celauro L., Magnifico M. C., Barile S. N., Masotti M., De Chirico F., Massenzio F., Viggiano L., Palmieri L., Virgili M., Lasorsa F. M., Monti B.

المساهمون: Poeta E., Petralla S., Babini G., Renzi B., Celauro L., Magnifico M.C., Barile S.N., Masotti M., De Chirico F., Massenzio F., Viggiano L., Palmieri L., Virgili M., Lasorsa F.M., Monti B.

مصطلحات موضوعية: epigenetic, mitochondria, neuron, oligodendrocyte, SLC25A12/aralar1/AGC1 deficiency, white matter disorder

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35095421; info:eu-repo/semantics/altIdentifier/wos/WOS:000747908900001; volume:15; firstpage:1; lastpage:23; numberofpages:23; journal:FRONTIERS IN CELLULAR NEUROSCIENCE; https://hdl.handle.net/11585/859911Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123405660

الإتاحة: https://doi.org/10.3389/fncel.2021.773709Test
https://hdl.handle.net/11585/859911Test

المؤلفون: Mónica Troncoso, Fernanda Balut, Scarlet Witting, Carla Rubilar, Jorge Carrera, Fabiola Cartes, Luisa Herrera

المصدر: Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)

مصطلحات موضوعية: FAM126A gene, Hypomyelination and congenital cataract, white matter disorder, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/fd18fa244eae47f499079de1968b87b8Test

المؤلفون: Troncoso, Mónica, Balut Oyarzún, Fernanda, Witting Enríquez, Scarlet, Rubilar Parra, Carla, Carrera, Jorge, Cartes, Fabiola, Herrera Cisterna, Luisa

المصدر: Clinical Case Reports

مصطلحات موضوعية: FAM126A gene, Hypomyelination and congenital cataract, White matter disorder

وصف الملف: application/pdf

العلاقة: Clin Case Rep. 2021;9:e04171; https://repositorio.uchile.cl/handle/2250/181978Test

الإتاحة: https://doi.org/10.1002/ccr3.4171Test
https://repositorio.uchile.cl/handle/2250/181978Test

المؤلفون: Dooves, Stephanie, Leferink, Prisca S., Krabbenborg, Sander, Breeuwsma, Nicole, Bots, Saskia, Hillen, Anne E.J., Jacobs, Gerbren, van der Knaap, Marjo S., Heine, Vivi M.

المصدر: Dooves , S , Leferink , P S , Krabbenborg , S , Breeuwsma , N , Bots , S , Hillen , A E J , Jacobs , G , van der Knaap , M S & Heine , V M 2019 , ' Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter ' , Stem cell reports , vol. 12 , no. 3 , pp. 441-450 . https://doi.org/10.1016/j.stemcr.2019.01.018Test

مصطلحات موضوعية: astrocytes, cell replacement therapy, glial cells, leukodystrophy, oligodendrocytes, stem cells, vanishing white matter, white matter disorder, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://research.vu.nl/en/publications/da7fb917-e183-40e1-9213-aecb0006bc1cTest

الإتاحة: https://doi.org/10.1016/j.stemcr.2019.01.018Test
https://research.vu.nl/en/publications/da7fb917-e183-40e1-9213-aecb0006bc1cTest
https://hdl.handle.net/1871.1/da7fb917-e183-40e1-9213-aecb0006bc1cTest
http://www.scopus.com/inward/record.url?scp=85062066332&partnerID=8YFLogxKTest
http://www.scopus.com/inward/citedby.url?scp=85062066332&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411482Test

المؤلفون: van Rappard, Diane F., Königs, Marsh, Steenweg, Marjan E., Boelens, Jaap Jan, Oosterlaan, Jaap, van der Knaap, Marjo S., Wolf, Nicole I., Pouwels, Petra J.W.

المصدر: van Rappard , D F , Königs , M , Steenweg , M E , Boelens , J J , Oosterlaan , J , van der Knaap , M S , Wolf , N I & Pouwels , P J W 2018 , ' Diffusion tensor imaging in metachromatic leukodystrophy ' , Journal of Neurology , vol. 265 , no. 3 , pp. 659-668 . https://doi.org/10.1007/s00415-018-8765-3Test

مصطلحات موضوعية: Axial diffusivity, Diffusion weighted imaging, Radial diffusivity, Sulfatide storage, White matter disorder, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://research.vu.nl/en/publications/ec8c5ba8-41ff-4be7-a7b5-7f671ea6aad2Test

الإتاحة: https://doi.org/10.1007/s00415-018-8765-3Test
https://research.vu.nl/en/publications/ec8c5ba8-41ff-4be7-a7b5-7f671ea6aad2Test
https://hdl.handle.net/1871.1/ec8c5ba8-41ff-4be7-a7b5-7f671ea6aad2Test
http://www.scopus.com/inward/record.url?scp=85041184390&partnerID=8YFLogxKTest
http://www.scopus.com/inward/citedby.url?scp=85041184390&partnerID=8YFLogxKTest