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Items: 15

1.

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ.

PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872.

2.

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update.

Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, Kovacs GG, Ghetti B, Halliday G, Holm IE, Ince PG, Kamphorst W, Revesz T, Rozemuller AJ, Kumar-Singh S, Akiyama H, Baborie A, Spina S, Dickson DW, Trojanowski JQ, Mann DM.

Acta Neuropathol. 2010 Jan;119(1):1-4. doi: 10.1007/s00401-009-0612-2. Epub 2009 Nov 19. No abstract available.

3.

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.

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.

Hum Mol Genet. 2008 Jan 15;17(2):313-22. Epub 2007 Oct 22.

PMID:
17956895
4.

Genetic variability in CHMP2B and frontotemporal dementia.

Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, St George-Hyslop P, Hardy J.

Neurodegener Dis. 2006;3(3):129-33.

PMID:
16954699
5.

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).

Parkinson N, Ince PG, Smith MO, Highley R, Skibinski G, Andersen PM, Morrison KE, Pall HS, Hardiman O, Collinge J, Shaw PJ, Fisher EM; MRC Proteomics in ALS Study; FReJA Consortium.

Neurology. 2006 Sep 26;67(6):1074-7. Epub 2006 Jun 28.

PMID:
16807408
6.

A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex.

Tsang HT, Connell JW, Brown SE, Thompson A, Reid E, Sanderson CM.

Genomics. 2006 Sep;88(3):333-46. Epub 2006 May 30.

7.

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.

Cannon A, Baker M, Boeve B, Josephs K, Knopman D, Petersen R, Parisi J, Dickison D, Adamson J, Snowden J, Neary D, Mann D, Hutton M, Pickering-Brown SM.

Neurosci Lett. 2006 May 1;398(1-2):83-4. Epub 2006 Jan 23.

PMID:
16431024
8.

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.

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.

Nat Genet. 2005 Aug;37(8):806-8. Epub 2005 Jul 24.

PMID:
16041373
9.

Chromosome 3 linked frontotemporal dementia (FTD-3).

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.

Neurology. 2002 Nov 26;59(10):1585-94.

PMID:
12451202
10.

Escrt-III: an endosome-associated heterooligomeric protein complex required for mvb sorting.

Babst M, Katzmann DJ, Estepa-Sabal EJ, Meerloo T, Emr SD.

Dev Cell. 2002 Aug;3(2):271-82.

11.

A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers.

Poduslo SE, Yin X, Hargis J, Brumback RA, Mastrianni JA, Schwankhaus J.

Hum Genet. 1999 Jul-Aug;105(1-2):32-7.

PMID:
10480352
12.

Chromosome 3-linked frontotemporal dementia.

Brown J.

Cell Mol Life Sci. 1998 Sep;54(9):925-7. Review.

PMID:
9791535
13.

Familial non-specific dementia maps to chromosome 3.

Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, Collinge J.

Hum Mol Genet. 1995 Sep;4(9):1625-8.

PMID:
8541850
14.

Familial dementia of adult onset with pathological findings of a 'non-specific' nature.

Kim RC, Collins GH, Parisi JE, Wright AW, Chu YB.

Brain. 1981 Mar;104(Pt 1):61-78.

PMID:
7470845
15.

Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease.

Gydesen S, Hagen S, Klinken L, Abelskov J, Sørensen SA.

Acta Psychiatr Scand. 1987 Sep;76(3):276-84.

PMID:
3673655

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