Associated Papers
Deleterious Sequestosome 1 mutations G262R and P438L in amyotrophic lateral sclerosis cause autophagy and oxidative stress imbalance.
Singh N et al.
Neuroscience, 2025
Structural and mechanistic insights into ALS patient derived mutations in D-amino acid oxidase.
Khan S et al.
International Journal of Biological Macromolecules, 2024
Mechanistic insights into the loss-of-function mechanisms of rare human D-amino acid oxidase variants implicated in amyotrophic lateral sclerosis.
Padhi AK et al.
Scientific Reports, 2020
Insights into the role of d-amino acid oxidase mutations in amyotrophic lateral sclerosis.
Padhi AK et al.
Journal of Cellular Biochemistry, 2019
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
Lattante S et al.
Trends in Genetics : Tig, 2015
Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.
Testi S et al.
Journal of Alzheimer's Disease : Jad, 2015
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP et al.
Human Mutation, 2013
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
van Blitterswijk M et al.
Current Opinion in Neurology, 2012
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
Millecamps S et al.
Journal of Medical Genetics, 2012
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