✦ LIBER ✦

EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy

✍ Scribed by Dietrich, Jörg; Lacagnina, Michelle; Gass, David; Richfield, Eric; Mayer-Pröschel, Margot; Noble, Mark; Torres, Carlos; Pröschel, Christoph

Book ID: 109932089
Publisher: Nature Publishing Group
Year: 2005
Tongue: English
Weight: 739 KB
Volume: 11
Category: Article
ISSN: 1078-8956
DOI: 10.1038/nm1195

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Late-onset vanishing white matter diseas

Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations

✍ H.-N. Lee; S.-H. Koh; K.-Y. Lee; C.-S. Ki; Y. J. Lee 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB

Adult-onset leukoencephalopathies with v

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations inEIF2B2,EIF2B3, andEIF2B5

✍ Takashi Matsukawa; Xuemin Wang; Rui Liu; Noel C. Wortham; Yuko Onuki; Akatsuki K 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 199 KB

Mutations in each of the five subunits o

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

✍ Marjo S. van der Knaap; Peter A. J. Leegwater; Andrea A.M. Könst; Allerdien Viss 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 977 KB

## Abstract Leukoencephalopathy with vanishing white matter is a recently defined autosomal recessive disorder. The course is chronic progressive with additional episodes of rapid deterioration, provoked by fever and minor head trauma. A previous study showed that mutations in the genes encoding th

An unmasked mutation of EIF2B2 due to su

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease

✍ Shino Shimada; Kazushi Miya; Nozomi Oda; Yuki Watanabe; Tomohiro Kumada; Midori 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 596 KB

Vanishing white matter disease: an Itali

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course

✍ Luisa Sambati, Raffaele Agati, Antonella Bacci, Silvia Bianchi, Sabina Capellari 📂 Article 📅 2012 🏛 Springer Milan 🌐 English ⚖ 306 KB