Article
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Human molecular genetics - 1 Jun 2012
Blauw Hylke M, van Rheenen Wouter, Koppers Max, Van Damme Philip, Waibel Stefan, Lemmens Robin, van Vught Paul W J, Meyer Thomas, Schulte Claudia, Gasser Thomas, Cuppen Edwin, Pasterkamp R Jeroen, Robberecht Wim, Ludolph Albert C, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) motor neuron phenotype. Deletions of NIPA1 have been associated with a higher susceptibility to amyotrophic lateral sclerosis (ALS). The exact role of genetic variation in NIPA1...
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