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Plos Genetics|December 5, 2012
Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP modelPetra Füger, Vrinda Sreekumar, Rebecca Schüle, et al.Brain : a Journal of Neurology|June 28, 2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifierTobias Bonifert, Kathrin N Karle, Felix Tonagel, et al.Orphanet Journal of Rare Diseases|March 19, 2013
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrumMatthis Synofzik, Anne S Soehn, Janina Gburek-Augustat, et al.The Journal of Clinical Investigation|September 21, 2013
A spastic paraplegia mouse model reveals REEP1-dependent ER shapingChristian Beetz, Nicole Koch, Mukhran Khundadze, et al.Annals of Neurology|February 10, 2016
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patientsRebecca Schüle, Sarah Wiethoff, Peter Martus, et al.Annals of Neurology|August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxiaKatherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.Pageof 2