Burden of rare variants in ALS genes influences survival in familial and sporadic ALS
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2017.06.007
Abstract: Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing… read more here.
Keywords: als genes; burden rare; variants als; sporadic als ... See more keywords
Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?
Sign Up to like & getrecommendations! Published in 2020 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2020.1779060
Abstract: ABSTRACT Introduction Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease predominantly affecting upper and lower motor neurons. Diagnosis of this devastating pathology is very difficult because the high degree of clinical heterogeneity with which… read more here.
Keywords: als genes; mutations als; diagnosis; amyotrophic lateral ... See more keywords
Agglutinin-Like Sequence (ALS) Genes in the Candida parapsilosis Species Complex: Blurring the Boundaries Between Gene Families That Encode Cell-Wall Proteins
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Microbiology"
DOI: 10.3389/fmicb.2019.00781
Abstract: The agglutinin-like sequence (Als) proteins are best-characterized in Candida albicans and known for their role in adhesion of the fungal cell to host and abiotic surfaces. ALS sequences are often misassembled in whole-genome sequence data… read more here.
Keywords: als genes; candida parapsilosis; parapsilosis; parapsilosis species ... See more keywords