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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: eriksson u. 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
Recurrence of Susac Syndrome following 23 Years of Remission.
Feresiadou A, Eriksson U, Larsen HC, Raininko R, Nygren I, Melberg A. Feresiadou A, et al. Among authors: eriksson u. Case Rep Neurol. 2014 May 21;6(2):171-5. doi: 10.1159/000362868. eCollection 2014 May. Case Rep Neurol. 2014. PMID: 24987361 Free PMC article.
'Congenital' nystagmus may hide various ophthalmic diagnoses.
Holmström G, Bondeson ML, Eriksson U, Åkerblom H, Larsson E. Holmström G, et al. Among authors: eriksson u. Acta Ophthalmol. 2014 Aug;92(5):412-6. doi: 10.1111/aos.12250. Epub 2013 Jul 29. Acta Ophthalmol. 2014. PMID: 23889849 Free article.
689 results