2 documents found, page 1 of 1
Relationships between slow vital capacity and measures of respiratory function ...
Jackson, Carlayne; Carvalho, Mamede; Genge, Angela; Heiman-Patterson, Terry; Shefner, Jeremy M.; Wei, Jenny; Wolff, Andrew A.Objective: As declining respiratory muscle function commonly leads to disability and death in amyotrophic lateral sclerosis (ALS), respiratory measurements such as slow vital capacity (SVC) may predict disease progression. This study evaluated the relationship between SVC and symptoms measured by the revised ALS Functional Rating Scale (ALSFRS-R). Methods: About 453 ALS placebo-treated patients from the EMPOWER...
Genome-wide analyses identify KIF5A as a novel ALS gene
Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Int...