المؤلفون: Nana Fukushima, Yuki Miyamoto, Junji Yamauchi

المصدر: Pathophysiology, Vol 31, Iss 3, Pp 420-435 (2024)

مصطلحات موضوعية: Rab9, oligodendrocyte, morphogenesis, ER stress, hypomyelinating leukodystrophy, Physiology, QP1-981

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1873-149X/31/3/32; https://doaj.org/toc/1873-149X

URL الوصول: https://doaj.org/article/c0202dd3fbe9489c87d87e61dd6513c9

المؤلفون: Shima Farrokhi, Atieh Eslahi, Farzaneh Alizadeh, Zahra Farshchian, Yasamin Yousefi, Majid Mojarrad

المصدر: Heliyon, Vol 10, Iss 20, Pp e36560- (2024)

مصطلحات موضوعية: Hypomyelinating leukodystrophy 17, AIMP2, MSC complex, Insilico, nsSNVs, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024125911; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/42d765711c9a4821ba36c759692cd89b

المؤلفون: Dan-dan Ruan, Xing-lin Ruan, Ruo‑li Wang, Xin-fu Lin, Yan-ping Zhang, Bin Lin, Shi-jie Li, Min Wu, Qian Chen, Jian-hui Zhang, Qiong Cheng, Yi-wu Zhang, Fan Lin, Jie-wei Luo, Zheng Zheng, Yun-fei Li

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: POLR3-related hypomyelinating leukodystrophy, POLR3A gene, HLD-7, RNA polymerase III (Pol III), Myelination, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/e508b027dcff4bf3927d0ac5b85b9d81

المؤلفون: Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogoli, Andrea, Zara, Frederico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Vockley, Catherine Walsh, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L

المصدر: Brain. 144(12)

مصطلحات موضوعية: Digestive Diseases, Pediatric, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Oral and gastrointestinal, Female, Hereditary Central Nervous System Demyelinating Diseases, Humans, Intestinal Atresia, Male, Minor Histocompatibility Antigens, Pedigree, Phosphotransferases (Alcohol Group Acceptor), Polymorphism, Single Nucleotide, Primary Immunodeficiency Diseases, hypomyelinating leukodystrophy, multiple intestinal atresia, PI4KA, FAM126A, TTC7A, PI4KA, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9g7991s4
https://escholarship.org/content/qt9g7991s4/qt9g7991s4.pdf

المؤلفون: Tomohiro Torii, Junji Yamauchi

المصدر: Neurology International, Vol 15, Iss 3, Pp 1155-1173 (2023)

مصطلحات موضوعية: oligodendrocytes, myelin, hypomyelination, demyelination, hypomyelinating leukodystrophy (HLD), Medicine, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2035-8377/15/3/72; https://doaj.org/toc/2035-8377

URL الوصول: https://doaj.org/article/cebe133d9c4f4169af6fc676a07e7a21

المؤلفون: Michele Dei Cas, Linda Montavoci, Claudia Pasini, Anna Caretti, Sara Penati, Carla Martinelli, Umberto Gianelli, Sara Casati, Francesca Nardecchia, Annalaura Torella, Nicola Brunetti-Pierri, Marco Trinchera

المصدر: Journal of Lipid Research, Vol 65, Iss 3, Pp 100517- (2024)

مصطلحات موضوعية: sphingolipids, ceramides, lipidomics, brain lipids, glycolipids, hypomyelinating leukodystrophy 18, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227524000221; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/c066db706c1b439f81926ed07b97410d

المؤلفون: Dimitra Siori, Dimitrios Vlachakis, Periklis Makrythanasis, Joanne Traeger-Synodinos, Danai Veltra, Afrodite Kampouraki, George P. Chrousos

المصدر: Genes, Vol 15, Iss 5, p 525 (2024)

مصطلحات موضوعية: leukodystrophy, myelin, oligodendrocyte, hypomyelination, remyelination, infantile transient hypomyelinating leukodystrophy type 19, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/5/525; https://doaj.org/toc/2073-4425; https://doaj.org/article/d9f1790fb03d444297ee8e43965657db

الاتاحة: https://doi.org/10.3390/genes15050525
https://doaj.org/article/d9f1790fb03d444297ee8e43965657db

المؤلفون: Andreas J. Hülsmeier, Sandra P. Toelle, Peter Bellstedt, Christian Wentzel, Angela Bahr, Konstantinos Kolokotronis, Thorsten Hornemann

المصدر: Journal of Lipid Research, Vol 64, Iss 12, Pp 100464- (2023)

مصطلحات موضوعية: Sphingolipids, DEGS1, hypomyelinating leukodystrophy, sphingolipidosis, HLD18, biomarker, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227523001372; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/9f984328b0924ca1beb28331a03f23f9

المؤلفون: Maryam Akbari, Zeinab Ebrahimi Tapeh, Mona Zaersabet, Hamzeh Rahimi, Maziar Ganji

المصدر: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Hypomyelinating leukodystrophy, PYCR2, Whole-exome sequencing, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/0c14ea1f50d0430094279da6f056834f

المؤلفون: Jacky Ganguly, Jigyasha Sinha, Purba Basu, Anushree Pal, Banashree Mondal, Mona Tiwari, Hrishikesh Kumar

المصدر: Annals of Movement Disorders, Vol 6, Iss 2, Pp 58-71 (2023)

مصطلحات موضوعية: ataxia, dystonia, hypomyelinating leukodystrophy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.aomd.in/article.asp?issn=2590-3446;year=2023;volume=6;issue=2;spage=58;epage=71;aulast=Ganguly; https://doaj.org/toc/2590-3446; https://doaj.org/toc/2590-3454

URL الوصول: https://doaj.org/article/7906a3b052b74820b7c768903da51ada

المؤلفون: Hakim Si Ahmed, Ouardia Belarbi, Smail Daoudi, Pierre Labauge, Clarisse Carra-Dalliere, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, Hélène Cavé

المصدر: Romanian Journal of Neurology, Vol 21, Iss 2, Pp 115-118 (2022)

مصطلحات موضوعية: polr3a-related leukodystrophy, ataxo-spasmodic hypomyelinating leukodystrophy, genetics, new mutation variant c.3892-5c > t, Medicine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://rjn.com.ro/articles/2022.2/RJN_2022_2_Art-04.pdf; https://doaj.org/toc/1843-8148; https://doaj.org/toc/2069-6094

URL الوصول: https://doaj.org/article/77e8787538a443048631f682d42bd146

المؤلفون: Sui Sawaguchi, Rimi Suzuki, Hiroaki Oizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Masahiro Yamamoto, Yuki Miyamoto, Junji Yamauchi

المصدر: Neurology International, Vol 14, Iss 1, Pp 212-244 (2022)

مصطلحات موضوعية: Pelizaeus–Merzbacher disease (PMD), hypomyelinating leukodystrophy (HLD), POLR3B, lysosome, oligodendrocyte, ibuprofen, Medicine, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2035-8377/14/1/18; https://doaj.org/toc/2035-8377

URL الوصول: https://doaj.org/article/4ac109e0acee4318b2c14696eb5d6fdb

المؤلفون: Sui Sawaguchi, Kenji Tago, Hiroaki Oizumi, Katsuya Ohbuchi, Masahiro Yamamoto, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi

المصدر: Neurology International, Vol 14, Iss 1, Pp 11-33 (2021)

مصطلحات موضوعية: Pelizaeus-Merzbacher disease (PMD), hypomyelinating leukodystrophy (HLD), POLR3A, lysosome, oligodendrocyte, ibuprofen, Medicine, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2035-8377/14/1/2; https://doaj.org/toc/2035-8377

URL الوصول: https://doaj.org/article/dace523abb8a4d9ba19c56e7f8653055

المؤلفون: A. F. Murtazina, T. V. Markova, A. A. Orlova, O. P. Ryzhkova, O. A. Shchagina, E. L. Dadali

المصدر: Нервно-мышечные болезни, Vol 11, Iss 4, Pp 48-54 (2021)

مصطلحات موضوعية: hypomyelinating leukodystrophy type 7, polr3a, spastic ataxia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/468; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/364f3ca250c4411fb04a3e143f73d2df

المؤلفون: Fu H, Wang Q, Liu H

المصدر: International Journal of General Medicine, Vol Volume 14, Pp 797-803 (2021)

مصطلحات موضوعية: pmld, hypomyelinating leukodystrophy, npc, compound heterozygote mutations, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.dovepress.com/novel-mutations-in-npc1-are-associated-with-pelizaeus-merzbacher-like--peer-reviewed-article-IJGM; https://doaj.org/toc/1178-7074

URL الوصول: https://doaj.org/article/c73043b69d9345b3b419bdfa5be8f4eb

المؤلفون: Elisabeth Lata, Karine Choquet, Francis Sagliocco, Bernard Brais, Geneviève Bernard, Martin Teichmann

المصدر: Frontiers in Molecular Biosciences, Vol 8 (2021)

مصطلحات موضوعية: RNA polymerase III (Pol III), Pol III-related hypomyelinating leukodystrophy (POLR3-HLD), innate immunity, neurodegenerative disease, Pol III subunits (POLR3A, POLR3B, POLR3C, POLR3E, POLR3F, POLR3GL, POLR3H, POLR3K, POLR1C), Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2021.696438/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/854006a57af54359916f1c9b5247f3fe

المؤلفون: Philipp Guder, Ulrike Löbel, Britta Fiebig, Ilena Oppermann, Angelika Berger, Annette Bley

المصدر: Brain Disorders, Vol 2, Iss , Pp 100006- (2021)

مصطلحات موضوعية: Hypomyelinating leukodystrophy, Nkx6–2 gene, Spax8, Nystagmus, Developmental delay, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666459321000056; https://doaj.org/toc/2666-4593

URL الوصول: https://doaj.org/article/c82d41237df345758864c96cd1f0c965

المؤلفون: Zhu, Yuqing

المصدر: Arts & Sciences Electronic Theses and Dissertations

مصطلحات موضوعية: Dihydroceramide desaturase, Drosophila, Endoplasmic reticulum stress, Glia, Hypomyelinating leukodystrophy, Lipid droplet

وصف الملف: application/pdf

Relation: https://openscholarship.wustl.edu/art_sci_etds/3082; https://openscholarship.wustl.edu/context/art_sci_etds/article/4411/viewcontent/1044512.pdf

الاتاحة: https://openscholarship.wustl.edu/art_sci_etds/3082
https://doi.org/10.7936/71a6-6c48
https://openscholarship.wustl.edu/context/art_sci_etds/article/4411/viewcontent/1044512.pdf

المؤلفون: Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O'Leary, Melanie, O'Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

المساهمون: Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O'Leary, Melanie, O'Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlo, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Lui, Brusco, Alfredo, Koenig, Michel, Macaya, Alfon, Pujol, Aurora

مصطلحات موضوعية: PI4KA, hypomyelinating leukodystrophy, inborn errors of metabolism, phosphoinositol, spastic paraplegia

Relation: info:eu-repo/semantics/altIdentifier/pmid/34415322; volume:144; issue:9; firstpage:2659; lastpage:2669; numberofpages:11; journal:BRAIN; http://hdl.handle.net/2318/1808626; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119322936

الاتاحة: http://hdl.handle.net/2318/1808626
https://doi.org/10.1093/brain/awab124
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awab124/6355367

المؤلفون: Salter, C. G., Cai, Y., Lo, B., Helman, G., Taylor, H., McCartney, A., Leslie, J. S., Accogoli, A., Zara, F., Traverso, M., Fasham, J., Lees, J. A., Ferla, M., Chioza, B. A., Wenger, O., Scott, E., Cross, H. E., Crawford, J., Warshawsky, I., Keisling, M., Agamanolis, D., Melver, C. W., Cox, H., Elawad, M., Marton, T., Wakeling, M., Holzinger, D., Tippelt, S., Munteanu, M., Valcheva, D., Deal, C., Van Meerbeke, S., Vockley, C. W., Butte, M. J., Acar, U., van der Knaap, M. S., Korenke, G. C., Kotzaeridou, U., Balla, T., Simons, C., Uhlig, H. H., Crosby, A. H., De Camilli, P., Wolf, N. I., Baple, E. L.

مصطلحات موضوعية: Fam126a, Pi4ka, Ttc7a, hypomyelinating leukodystrophy, multiple intestinal atresia

Relation: Brain. 2021 Aug 20:awab313. doi:10.1093/brain/awab313.; https://rde.dspace-express.com/handle/11287/622145; Brain : a journal of neurology

الاتاحة: https://doi.org/10.1093/brain/awab313
https://rde.dspace-express.com/handle/11287/622145