Nature Genetics
37, 806 - 808 (2005)
Published online: 24 July 2005; | doi:10.1038/ng1609
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementiaGaia Skibinski, Nicholas J Parkinson, Jeremy M Brown, Lisa Chakrabarti, Sarah L Lloyd, Holger Hummerich, Jørgen E Nielsen, John R Hodges, Maria Grazia Spillantini, Tove Thusgaard, Sebastian Brandner, Arne Brun, Martin N Rossor, Anders Gade, Peter Johannsen, Sven Asger Sørensen, Susanne Gydesen, Elizabeth MC Fisher
& John Collinge Supplementary Fig. 1 (pdf 340K)
The Danish pedigree showing generations 1 to 3. Supplementary Fig. 2 (pdf 68K)
Inheritance of the disease haplotype in the Danish pedigree in branches taken from generations 1 to 3. Supplementary Fig. 3 (pdf 328K)
Electropherograms of the mutations identified in CHMP2b. Supplementary Fig. 4 (pdf 132K)
Multiple protein alignment of human CHMP2b, mutant isoforms and orthologs. Supplementary Fig. 5 (pdf 396K)
Overexpression of CHMP2b 10 displays an aberrant phenotype in undifferentiated PC12 cells. Supplementary Table 1 (pdf 28K)
Primer sequences for CHMP2b. Supplementary Methods (pdf 68K)
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