Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

Messing, VMD, PhD, A., and T. L. Hagemann, PhD. Type II Alexander Disease Caused by Splicing Errors and Aberrant Overexpression of an Uncharacterized GFAP Isoform.
Helman G, Takanohashi A, Hagemann TL, Perng MD, Walkiewicz M, Woidill S, Sase S, Cross Z, Du Y, Zhao L, Waldman A, Haake BC, Fatemi A, Brenner M, Sherbini O, Messing A, Vanderver A, Simons C. (2020). Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Human Mutation, 41(6):1131-1137. doi: 10.1002/humu.24008. Epub 2020 Mar 11. PMID: 32126152; PMCID: PMC7491703.