SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
Del Bo R; Di Fonzo A; Ghezzi S; Locatelli F; Stevanin G; Costa A; Corti S; Bresolin N; Comi GP; Neurogenetics, 2007, vol. 8, issue 4, p 301, ISSN 13646745. ISBN 13646745.

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