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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. Parkinson N, et al. Neurology. 2006 Sep 26;67(6):1074-7. doi: 10.1212/01.wnl.0000231510.89311.8b. Epub 2006 Jun 28. Neurology. 2006. PMID: 16807408
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. Skibinski G, et al. Among authors: parkinson nj. Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609. Epub 2005 Jul 24. Nat Genet. 2005. PMID: 16041373
Behavioral and other phenotypes in a cytoplasmic Dynein light intermediate chain 1 mutant mouse.
Banks GT, Haas MA, Line S, Shepherd HL, Alqatari M, Stewart S, Rishal I, Philpott A, Kalmar B, Kuta A, Groves M, Parkinson N, Acevedo-Arozena A, Brandner S, Bannerman D, Greensmith L, Hafezparast M, Koltzenburg M, Deacon R, Fainzilber M, Fisher EM. Banks GT, et al. Among authors: parkinson n. J Neurosci. 2011 Apr 6;31(14):5483-94. doi: 10.1523/JNEUROSCI.5244-10.2011. J Neurosci. 2011. PMID: 21471385 Free PMC article.
Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.
Mackenzie FE, Parker A, Parkinson NJ, Oliver PL, Brooker D, Underhill P, Lukashkina VA, Lukashkin AN, Holmes C, Brown SD. Mackenzie FE, et al. Among authors: parkinson nj. Genes Brain Behav. 2009 Oct;8(7):699-713. doi: 10.1111/j.1601-183X.2009.00514.x. Epub 2009 Jun 22. Genes Brain Behav. 2009. PMID: 19737145 Free PMC article.
102 results