SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P.; Rogaeva, Ekaterina A.; George-Hyslop, Peter H. St; Bernardi, Giorgio; Kawarai, Toshitaka; Brain: A Journal of Neurology, 2010, vol. 133, issue 2, p 591, ISSN 00068950. ISBN 14602156.

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