Association between early-onset Parkinson's disease and mutations in the parkin gene.

By C. B. Lücking, A. Durr, Bonifati, J. Vaughan, G. Michele, T. Gasser, B. Harhangi, G. Meco, P. Denéfle, N. Wood and 3 more. New England Journal of Medicine, 2000

1,383 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Neurology

View Paper: https://www.semanticscholar.org/paper/7d22570819e33dcbf1755eb76a167d14df448070

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In Cellular and Molecular Neuroscience

In Neurology

Citations in the corpus

The cognitive ability of an incident cohort of Parkinson's patients in the UK. The CamPaIGN study. (2004, background): “Given that it is this group that has the highest risk of carrying parkin-related disease (Lucking et al., 2000), our study is unlikely to be in¯uenced by inclusion of parkin-related cases.”
Molecular pathophysiology of Parkinson's disease. (2005, background): “Mutations in the parkin gene are relatively common in familial PD, with mutations found in 50% of familial early-onset cases compatible with recessive inheritance and 10% of all early-onset PD cases (Lucking et al. 2000).”
Genetics of Parkinson's disease. (2012, background): “Parkin mutations are the most common known cause of EOPD, accounting for up to 77% of the familial cases with an age of onset ,30 yr (Lucking et al. 2000), and for 10%– 20% of EOPD patients in general (Klein and Lohmann-Hedrich 2007).”
Parkinson's disease: genetics and pathogenesis. (2011, background): “The results of a large case series suggest that parkin is a major cause of young-onset parkinsonism (106, 107).”
Genetic Animal Models of Parkinson’s Disease (2010, positive): “PD-associated mutations in DJ-1 produce loss of function of DJ-1 by instability leading to defective dimer formation or lack of expression (Macedo et al., 2003; Moore et al., 2003).”