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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease
It is demonstrated that an unequivocal role for common genetic variants in the etiology of typical PD and population-specific genetic heterogeneity in this disease is suggested, and supporting evidence that common variation around LRRK2 modulates risk for PD is provided.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.
The results provide a novel link between mitochondrial dysfunction and neurodegeneration in PD and to a lesser extent, the risk allele of the A141S polymorphism induced mitochondrial dysfunction associated with altered mitochondrial morphology.
Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
A novel form of autosomal dominant SCA is identified in a large pedigree ('R') of German descent, termed SCA12, which resembles the spinocerebellar ataxias more closely than any other form of neurodegenerative disorder.
Reduced Basal Autophagy and Impaired Mitochondrial Dynamics Due to Loss of Parkinson's Disease-Associated Protein DJ-1
It is shown that loss of DJ-1 leads to impaired autophagy and accumulation of dysfunctional mitochondria that under physiological conditions would be compensated via lysosomal clearance, providing evidence for a critical role ofDJ-1 in mitochondrial homeostasis in Parkinson's disease.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.