المؤلفون: Duarri Piqué, Anna

المساهمون: University/Department: Universitat Autònoma de Barcelona. Departament de Bioquímica i Biologia Molecular

Thesis Advisors: Estévez Povedano, Raúl, Nunes Martínez, Virginia, Lizcano de Vega, José Miguel

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Leucoencefalopatia, Volum, MLC1, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://www.tdx.cat/TDX-0214111-140542
http://hdl.handle.net/10803/3630

المؤلفون: Jian Zha, Yong Chen, Fangfang Cao, Yuxin Xu, Zuozhen Yang, Shu Wen, Mengmeng Liang, Huaping Wu, Jianmin Zhong

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)

مصطلحات موضوعية: intellectual disorder, macrocephaly, megalencephalic leukoencephalopathy, MLC1, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/80cbee6e48c84bbba04e093af888ceb0

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1352947/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/5d8759cb088045a8823df2ec24ddd0cb

المؤلفون: Anna Krzywonos-Zawadzka, Agnieszka Olejnik, Grzegorz Sawicki, Iwona Bil-Lula

المصدر: Biomedicines, Vol 12, Iss 3, p 634 (2024)

مصطلحات موضوعية: doxycycline, rat myocardial infraction, LAD, MMPs, MLC1, ischemic heart disease, Biology (General), QH301-705.5

Relation: https://www.mdpi.com/2227-9059/12/3/634; https://doaj.org/toc/2227-9059; https://doaj.org/article/cd35882480434d8ba5e0989462b79baa

الاتاحة: https://doi.org/10.3390/biomedicines12030634
https://doaj.org/article/cd35882480434d8ba5e0989462b79baa

المؤلفون: Xi Chen, Haibo Qu, Qiang Yao, Xiaotang Cai, Tiantian He, Xuemei Zhang

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: MLC, MLC1, leukodystrophy, splice mutation, clinical phenotype, prenatal diagnosis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1253398/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/715833ed0bf3412988db6178609edec5

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

Relation: http://www.sciencedirect.com/science/article/pii/S2666459323000161; https://doaj.org/toc/2666-4593

URL الوصول: https://doaj.org/article/ee0bb518887d403fa2a6e96bbe1c4b8d

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

Relation: 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.2023.04.008; https://hdl.handle.net/20.500.12900/269; 144; 72; 77

الاتاحة: https://hdl.handle.net/20.500.12900/269

المؤلفون: Kater, Mandy S.J., Baumgart, Katharina F., Badia-Soteras, Aina, Heistek, Tim S., Carney, Karen E., Timmerman, A. Jacob, van Weering, Jan R.T., Smit, August B., van der Knaap, Marjo S., Mansvelder, Huibert D., Verheijen, Mark H.G., Min, Rogier

المصدر: Kater , M S J , Baumgart , K F , Badia-Soteras , A , Heistek , T S , Carney , K E , Timmerman , A J , van Weering , J R T , Smit , A B , van der Knaap , M S , Mansvelder , H D , Verheijen , M H G & Min , R 2023 , ' A novel role for MLC1 in regulating astrocyte–synapse interactions ' , Glia , vol. 71 , no. 7 , pp. 1770-1785 . https://doi.org/10.1002/glia.24368

مصطلحات موضوعية: astrocytes, fear conditioning, MLC1, perisynaptic astrocyte process, synaptic transmission

الاتاحة: https://research.vu.nl/en/publications/009f032d-7db5-4f9e-9d9a-56373e89bbc1
https://doi.org/10.1002/glia.24368
https://hdl.handle.net/1871.1/009f032d-7db5-4f9e-9d9a-56373e89bbc1
http://www.scopus.com/inward/record.url?scp=85152085959&partnerID=8YFLogxK
http://www.scopus.com/inward/citedby.url?scp=85152085959&partnerID=8YFLogxK

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

Relation: http://link.springer.com/article/10.1186/s12888-020-02750-6; https://doaj.org/toc/1471-244X

URL الوصول: https://doaj.org/article/e7f18b28754044f788a394df257d389c

المؤلفون: Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Intellectual disability, VPS53 gene, GLB1 gene, MLC1 gene, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-00998-z; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/e12db3ed56af4fa8b96452f503099b00

المؤلفون: Antonio Bravo-Oro, Jorge G. Reyes-Vaca, María F. Noriega-Reyes, Carmen Esmer

المصدر: Boletín Médico del Hospital Infantil de México, Vol 79, Iss 2 (2022)

مصطلحات موضوعية: Leucodistrofia. Leucoencefalopatía megaloencefálica. Quistes subcorticales. MLC1., Pediatrics, RJ1-570, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.bmhim.com/frame_esp.php?id=302; https://doaj.org/toc/0539-6115

URL الوصول: https://doaj.org/article/24aacfb6ac874a34be800ac1a3800c11

المؤلفون: E. S. Caprini, A. Lanciotti, M. S. Brignone, B. Serafini, B. Rosicarelli, S. Sposito, F. Nicita, R. Carrozzo, E. Bertini, E. Ambrosini

المساهمون: Caprini, E. S., Lanciotti, A., Brignone, M. S., Serafini, B., Rosicarelli, B., Sposito, S., Nicita, F., Carrozzo, R., Bertini, E., Ambrosini, E.

مصطلحات موضوعية: 3D human cell culture model, megalencephalic leukoencephalopathy with subcortical cyst, MLC1, leukodystrophy, neurodevelopment

Relation: ispartofbook:Abstract book MLC Scientific Symposium 2024; MLC Scientific Symposium 2024; https://hdl.handle.net/11573/1725221

الاتاحة: https://hdl.handle.net/11573/1725221

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

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23105528

الاتاحة: https://doi.org/10.3390/ijms23105528

المؤلفون: Junmo Hwang, Kunwoong Park, Ga-Young Lee, Bo Young Yoon, Hyunmin Kim, Sung Hoon Roh, Byoung-Cheol Lee, Kipom Kim, Hyun-Ho Lim

المصدر: Open Biology, Vol 11, Iss 12 (2021)

مصطلحات موضوعية: MLC1, membrane protein, transmembrane topology, subunit stoichiometry, fluorescence quenching, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2046-2441

URL الوصول: https://doaj.org/article/38f4b72b65bd4330b9ced569bc801818

المؤلفون: Alice Gilbert, Xabier Elorza-Vidal, Armelle Rancillac, Audrey Chagnot, Mervé Yetim, Vincent Hingot, Thomas Deffieux, Anne-Cécile Boulay, Rodrigo Alvear-Perez, Salvatore Cisternino, Sabrina Martin, Sonia Taïb, Aontoinette Gelot, Virginie Mignon, Maryline Favier, Isabelle Brunet, Xavier Declèves, Mickael Tanter, Raul Estevez, Denis Vivien, Bruno Saubaméa, Martine Cohen-Salmon

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: MLC, MLC1, gliovascular unit, astrocytes, development, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/71379; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/8c131fd67c234cbf982e2d29b237469b

المؤلفون: Junmo Hwang, Hung M. Vu, Min-Sik Kim, Hyun-Ho Lim

المصدر: Molecular Brain, Vol 12, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: MLC1, Leukodystrophy, Actin remodeling, Filopodia, Lamellipodia, Cell motility, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-6606

URL الوصول: https://doaj.org/article/bf7919f063314f0489d3334c3ee86ee9

المؤلفون: Türkyılmaz A, Ünver O, Ekinci G, Türkdoğan D

المصدر: Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 89-92 (2019)

مصطلحات موضوعية: cdna sequencing, exon skipping, leuko-encephalopathy, mlc1 gene, splice-site mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/a81d31e7ccd542ca93e6f1b0d9ec16ed

المؤلفون: Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A. Alia, Maja B. Hoegg-Beiler, Muhamed N. H. Eeza, María Luz Díaz, Virginia Nunes, Alejandro Barrallo-Gimeno, Raúl Estévez

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: MLC1, GLIALCAM, Megalencephalic leukoencephalopathy, Myelin, Astrocyte, Zebrafish, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1248-5; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8acecb8eb6054a739839af32648f3f85

المؤلفون: Bravo-Oro,Antonio, Reyes-Vaca,Jorge G., Noriega-Reyes,María F., Esmer,Carmen

المصدر: Boletín médico del Hospital Infantil de México v.79 n.2 2022

مصطلحات موضوعية: Leucodistrofia, Leucoencefalopatía megaloencefálica, Quistes subcorticales, MLC1

وصف الملف: text/html

الاتاحة: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S1665-11462022000200129

المؤلفون: Ooi, Hui-Jean, Morales, John, McCarty, Joseph

المصدر: Summer Experience 2021

مصطلحات موضوعية: MLC1, U87 glioma cell line, cell invasion, cell viability

وصف الملف: application/pdf

Relation: https://openworks.mdanderson.org/sumexp21/116; https://openworks.mdanderson.org/context/sumexp21/article/1113/viewcontent/Jean_MDA_Poster_FINAL.pdf

الاتاحة: https://openworks.mdanderson.org/sumexp21/116
https://openworks.mdanderson.org/context/sumexp21/article/1113/viewcontent/Jean_MDA_Poster_FINAL.pdf