Genetic Conditions > CHMP2B-related frontotemporal dementia >

References

These sources were used to develop the Genetics Home Reference condition summary on CHMP2B-related frontotemporal dementia.

Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, Collinge J. Familial non-specific dementia maps to chromosome 3. Hum Mol Genet. 1995 Sep;4(9):1625-8. PubMed citation
Brown J, Gydesen S, Johannsen P, Gade A, Skibinski G, Chakrabarti L, Brun A, Spillantini M, Yancopoulou D, Thusgaard T, Sorensen A, Fisher E, Collinge J; FReJA (Frontotemporal Dementia Research in Jutland Association). Frontotemporal dementia linked to chromosome 3. Dement Geriatr Cogn Disord. 2004;17(4):274-6. PubMed citation
Brown J. Chromosome 3-linked frontotemporal dementia. Cell Mol Life Sci. 1998 Sep;54(9):925-7. Review. PubMed citation
Gene Review: Frontotemporal Dementia, Chromosome 3-Linked
Gydesen S, Brown JM, Brun A, Chakrabarti L, Gade A, Johannsen P, Rossor M, Thusgaard T, Grove A, Yancopoulou D, Spillantini MG, Fisher EM, Collinge J, Sorensen SA. Chromosome 3 linked frontotemporal dementia (FTD-3). Neurology. 2002 Nov 26;59(10):1585-94. PubMed citation
Holm IE, Englund E, Mackenzie IR, Johannsen P, Isaacs AM. A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. J Neuropathol Exp Neurol. 2007 Oct;66(10):884-91. PubMed citation
Lindquist SG, Braedgaard H, Svenstrup K, Isaacs AM, Nielsen JE; FReJA Consortium. Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family. Eur J Neurol. 2008 Jul;15(7):667-70. doi: 10.1111/j.1468-1331.2008.02144.x. Epub 2008 May 15. PubMed citation
Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sørensen SA, Gydesen S, Fisher EM, Collinge J. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet. 2005 Aug;37(8):806-8. Epub 2005 Jul 24. PubMed citation
van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet. 2008 Jan 15;17(2):313-22. Epub 2007 Oct 22. PubMed citation


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