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Keywords: parkinsonism
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Biochem Soc Trans (2016) 44 (2): 659–661.
Published: 11 April 2016
... in PNKP cause recessive ataxia with oculomotor apraxia type 4 Am. J. Hum. Genet. 2015 96 474 479 10.1016/j.ajhg.2015.01.005 25728773 4 Brás J. Guerreiro R. Hardy J. SnapShot: genetics of Parkinson's disease Cell 2015 160 570 570 10.1016/j.cell.2015.01.019 25635463...
Biochem Soc Trans (2006) 34 (5): 749–753.
Published: 25 October 2006
...D.J. Moore Mutations in the parkin gene are a common cause of autosomal recessive early-onset parkinsonism. Parkin functions as an E3 ubiquitin ligase where it can polyubiquitinate a number of its protein substrates, thus targeting them for degradation by the 26 S proteasomal complex. Recent...
Biochem Soc Trans (2005) 33 (4): 586–590.
Published: 01 August 2005
...O.A. Ross; M.J. Farrer PD (Parkinson's disease) is an aetiologically heterogeneous disorder characterized by a clinical phenotype consisting of resting tremor, rigidity and bradykinesia. Motor symptoms are associated with a progressive loss of dopaminergic neurons, with Lewy body inclusions within...