Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
By J. Neumann, J. Bras, E. Deas, S. O'sullivan, L. Parkkinen, R. Lachmann, Abi Li, J. Holton, R. Guerreiro, R. Paudel and 7 more. Brain : a journal of neurology, 2009
696 citations recorded by the source corpus.
Subfields: Cell Biology, Neurology, Physiology
View Paper: https://www.semanticscholar.org/paper/6d4080d83721799db5df8afe8992ac44a527cef6
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Citations in the corpus
- Gaucher’s Disease Glucocerebrosidase and -synuclein form a bidirectional pathogenic loop in synucleinopathies (2011, positive): “GBA1 mutations have also been identified in patients with the diagnosis of DLB (Goker-Alpan et al., 2006; Neumann et al., 2009), and inhibitors of GCase function have been shown to modulate a-syn levels (Manning-Bog et al.”
- Multi-center analysis of glucocerebrosidase mutations in Parkinson disease (2009, neutral): “R496H (7 recombinant alleles) (10) c.84dupG ( 17 )”
- Parkinson's disease: genetics and pathogenesis. (2011, background): “Clinically and pathologically, the PD phenotype in GBA-variant carriers closely matches that found in patients with idiopathic disease (93), although the age of onset is earlier, with a mean of 55 years in the largest study (92).”
- Missing pieces in the Parkinson's disease puzzle (2010, background): “Recently, heterozygous mutations in GBA (encoding glucocerebroside and famously linked to Gaucher disease) have been associated with a typical phenotype of Parkinson's disease and Lewy body patholog”