Zobrazeno 1 - 10
of 277
pro vyhledávání: '"Vanishing White Matter Disease"'
A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter.
Autor:
Hettiaracchchi, D.1, Nethikumara, N.1, Pathirana, B. A. P. S.1, Padeniya, A.2, Dissanayake, V. H. W.1
Publikováno v:
Case Reports in Pediatrics. 7/5/2018, p1-4. 4p.
Autor:
Klok, Melanie D.1, Bugiani, Marianna2, de Vries, Sharon I.3, Gerritsen, Wouter2, Breur, Marjolein2, van der Sluis, Sophie4, Heine, Vivi M.1,4, Kole, Maarten H. P.3,5, Baron, Wia6, van der Knaap, Marjo S.1,7 ms.vanderknaap@vumc.nl
Publikováno v:
Annals of Clinical & Translational Neurology. Apr2018, Vol. 5 Issue 4, p429-444. 16p.
Autor:
Wortham, Noel C.1 n.c.wortham@soton.ac.uk, Proud, Christopher G.1,2
Publikováno v:
BMC Medical Genetics. Aug2015, Vol. 16 Issue 1, p1-8. 8p.
Publikováno v:
New Scientist. 7/15/2017, Vol. 235 Issue 3134, p55-55. 1/3p.
Autor:
Ilaria Filareto, Giulia Cinelli, Ilaria Scalabrini, Elisa Caramaschi, Patrizia Bergonzini, Elisabetta Spezia, Alessandra Todeschini, Lorenzo Iughetti
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-9 (2022)
Abstract Background Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive neurological disease. The physiopathology of disease is still little understood, but it seems to involve impairment in maturation of astrocytes; as a
Externí odkaz:
https://doaj.org/article/791a67cba50d4ef9aab72fe4fe3c160f
Akademický článek
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Autor:
Hamilton, Eline M. C.1, van der Lei, Hannemieke D. W.1, Vermeulen, Gerre1, Gerver, Jan A. M.1, Lourenço, Charles M.2, Naidu, Sakkubai3, Mierzewska, Hanna4, Gemke, Reinoud J. B. J.5, de Vet, Henrica C. W.6, Uitdehaag, Bernard M. J.7, Lissenberg‐Witte, Birgit I.6, Research Group, V. W. M., van der Knaap, Marjo S.1,8 ms.vanderknaap@vumc.nl, Lissenberg-Witte, Birgit I6 (AUTHOR), Research Group, Vwm (AUTHOR), VWM Research Group (CORPORATE AUTHOR)
Publikováno v:
Annals of Neurology. Aug2018, Vol. 84 Issue 2, p274-288. 15p.
Publikováno v:
Frontiers in Bioengineering and Biotechnology, Vol 10 (2022)
Vanishing white matter disease (VWM) is one of the most common childhood inherited leukoencephalopathies with autosomal recessive inheritance. Mutations in five genes, EIF2B1-5, have been identified as the major cause of VWM. In this study, a targete
Externí odkaz:
https://doaj.org/article/4462d486707e44be93198e0514ffcb5f
Autor:
Cuibai Wei, Qi Qin, Fei Chen, Aihong Zhou, Fen Wang, Xiumei Zuo, Rong Chen, Jihui Lyu, Jianping Jia
Publikováno v:
BMC Neurology, Vol 19, Iss 1, Pp 1-10 (2019)
Abstract Background Vanishing white matter disease (VWMD) is one of the most prevalent inherited leukoencephalopathies, which generally presents in childhood as a progressive disorder while less beginning in adulthood. The present report describes th
Externí odkaz:
https://doaj.org/article/ed4bc0bdf17449649fc5a9f45a5b500f
Autor:
Neville Ng, Mauricio Castro Cabral-da-Silva, Simon Maksour, Tracey Berg, Martin Engel, Dina M. Silva, Dzung Do-Ha, Jeremy S. Lum, Sonia Sanz Muñoz, Nadia Suarez-Bosche, Claire H. Stevens, Lezanne Ooi
Publikováno v:
Translational Medicine Communications, Vol 5, Iss 1, Pp 1-10 (2020)
Abstract Background Vanishing white matter disease (VWMD) is a rare disease caused by mutations of the guanine exchange factor eIF2B. VWMD typically presents with juvenile onset, and there are few treatments for the disease. Recent progress in the fi
Externí odkaz:
https://doaj.org/article/34d00140baa14b5c9bdf71e3ab7c5644