Amyloid formation of alternatively spliced variants of α-synuclein. [PDF]
SanGiovanni DQ, McGlinchey RP, Lee JC.
europepmc +1 more source
Integration of multi-omics and machine learning strategies identifies immune related candidate biomarkers in inflammation-associated hypertrophic cardiomyopathy. [PDF]
Liang Q, Wang J, Nong Q, Tao S, Fang D.
europepmc +1 more source
Differential methylation of <i>SNCA</i> and <i>MAPT</i> genes associated with Parkinson's disease in Mexican Mestizos. [PDF]
Miranda-Morales EG +11 more
europepmc +1 more source
Molecular mechanisms of α-syn abnormal phase separation in cognitive impairment induced by chronic intermittent hypoxia and the neuroprotective effects of Danshensu methyl ester. [PDF]
Li J +17 more
europepmc +1 more source
A Novel SNCA A30G Mutation Causes Familial Parkinsonʼs Disease [PDF]
ABSTRACTBackgroundThe SNCA gene encoding α‐synuclein (αSyn) is the first gene identified to cause autosomal‐dominant Parkinsonʼs disease (PD).ObjectiveWe report the identification of a novel heterozygous A30G mutation of the SNCA gene in familial PD and describe clinical features of affected patients, genetic findings, and functional consequences ...
Hui Liu, Christos Koros, Claudia Schulte
exaly +6 more sources
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation [PDF]
We and others have described the neurodegenerative disorder caused by G51D SNCA mutation which shares characteristics of Parkinson's disease (PD) and multiple system atrophy (MSA). The objective of this investigation was to extend the description of the clinical and neuropathological hallmarks of G51D mutant SNCA-associated disease by the study of two ...
Aoife P Kiely +2 more
exaly +9 more sources

