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European Journal of Human Genetics : EJHG|January 20, 2012
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsStephan Klebe, Alexander Lossos, Hamid Azzedine, et al.Brain : a Journal of Neurology|October 21, 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresCristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, et al.American Journal of Human Genetics|November 27, 2012
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle Tesson, Magdalena Nawara, Mustafa A M Salih, et al.Human Mutation|November 12, 2014
Variants in CUL4B are associated with cerebral malformationsAnneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.Pageof 2