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Brain, ISSN 0006-8950, 10/2016, Volume 139, Issue 10, pp. 2586 - 2589
Journal Article
Brain, ISSN 0006-8950, 10/2016, Volume 139, Issue 10, pp. 2586 - 2589
Journal Article
Brain, ISSN 0006-8950, 10/2019
Abstract Age at onset of Alzheimer’s disease is highly variable, and its modifiers (genetic or environmental) could act through epigenetic changes, such as DNA... 
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 01/2018, Volume 90, Issue 4, pp. e323 - e331
OBJECTIVESuggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency,... 
HEXANUCLEOTIDE REPEAT EXPANSION | HYPERMETHYLATION | CPG-ISLAND | MUTATION | DISEASE | FTD | ALS | TMEM106B | FRONTOTEMPORAL LOBAR DEGENERATION | CLINICAL NEUROLOGY | 178
Journal Article
Movement Disorders, ISSN 0885-3185, 12/2018, Volume 33, Issue 12, pp. 1950 - 1955
ABSTRACT Background SNCA mutations cause autosomal dominant parkinsonism and inform our understanding of the molecular underpinnings of synucleinopathies. The... 
DNA methylation | Parkinson's disease | biological age | phosphorylation | protein aggregation | MYOCLONUS | CARRIERS | AGGREGATION | CLINICAL NEUROLOGY | Haplotypes | Phosphorylation | Basal ganglia | Fibrils | Central nervous system diseases | Synuclein | Fibrillation | Point mutation | Epigenetics | Mutation | Methylation | Movement disorders | Age | Deoxyribonucleic acid--DNA
Journal Article
Movement Disorders, ISSN 0885-3185, 12/2018, Volume 33, Issue 12, p. 1950
SNCA mutations cause autosomal dominant parkinsonism and inform our understanding of the molecular underpinnings of synucleinopathies. The most recently... 
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 06/2019, Volume 63, pp. 217 - 220
To confirm that there is a diagnostic delay in Parkin-related Parkinson Disease and to explore possible factors causing such a delay. We retrospectively... 
Atypical presentation | Parkin disease | PARK2 mutation | Delayed diagnosis | CLINICAL NEUROLOGY | Ubiquitin | Medical research | Parkinson's disease | Ligases | Analysis | Medicine, Experimental | Genetic aspects | Diagnosis
Journal Article
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 07/2018, Volume 14, Issue 7, pp. P198 - P198
Journal Article
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