Article
A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Human molecular genetics - 15 Oct 2010
Blauw Hylke M, Al-Chalabi Ammar, Andersen Peter M, van Vught Paul W J, Diekstra Frank P, van Es Michael A, Saris Christiaan G J, Groen Ewout J N, van Rheenen Wouter, Koppers Max, Van't Slot Ruben, Strengman Eric, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Uitterlinden Andre G, Kiemeney Lambertus A, Vermeulen Sita H M, Birve Anna, Waibel Stefan, Meyer Thomas, Cronin Simon, McLaughlin Russell L, Hardiman Orla, Sapp Peter C, Tobin Martin D, Wain Louise V, Tomik Barbara, Slowik Agnieszka, Lemmens Robin, Rujescu Dan, Schulte Claudia, Gasser Thomas, Brown Robert H, Landers John E, Robberecht Wim, Ludolph Albert C, Ophoff Roel A, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease selectively affecting motor neurons in the brain and spinal cord. Recent genome-wide association studies (GWASs) have identified several common variants which increase disease susceptibility. In contrast, rare copy-number va...
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