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SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, Påhlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N. Orlén H, et al. Among authors: kumlien e. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 19194956
Incomplete hippocampal inversion-is there a relation to epilepsy?
Bajic D, Kumlien E, Mattsson P, Lundberg S, Wang C, Raininko R. Bajic D, et al. Among authors: kumlien e. Eur Radiol. 2009 Oct;19(10):2544-50. doi: 10.1007/s00330-009-1438-y. Epub 2009 May 14. Eur Radiol. 2009. PMID: 19440714
85 results