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Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study
Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4
The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions
- T. Orme, R. Guerreiro, J. Bras
- Biology, MedicineCurrent Neurology and Neuroscience Reports
- 10 August 2018
Although off to a slow start, recent studies have reinvigorated the field of DLB genetics and these results enable us to start to have a more complete understanding of the genetic architecture of this disease.
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
The rarity of previously reported pathogenic mutations in this cohort suggests that the genetic overlap of other neurodegenerative diseases with DLB is not substantial, and suggests that other genetic loci play a role in this disease.
A comprehensive screening of copy number variability in dementia with Lewy bodies
LRP10 in α-synucleinopathies
Heritability and genetic variance of dementia with Lewy bodies
The proportion of phenotypic variance explained by genetic variability (SNP heritability) in DLB is estimated using a method that is unbiased by allele frequency or linkage disequilibrium properties of the underlying variants, and DLB has a positive correlation with education phenotypes, opposite to what occurs in AD.
Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
Is APOE ε4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers?
- R. Guerreiro, T. Orme, A. Naj, A. Kuzma, G. Schellenberg, J. Bras
- BiologyNeuropathology and applied neurobiology
- 24 October 2018
It is suggested that the presence of an ε4 APOE allele is necessary for the development of AD pathology in TREM2 p.R47H carriers and can have significant impact on individual risk assessment and on understanding the mechanisms of disease.
A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I
- K. Faller, A. Ridyard, J. Bras
- Biology, MedicineJournal of veterinary internal medicine
- 12 August 2020
Analysis of the genotype/phenotype correlation in this dog family suggests that dogs with MPS‐I could have a less severe phenotype than humans, even in the presence of severe mutations.