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A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E. Barøy T, et al. Among authors: stadskleiv k. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28. Hum Mol Genet. 2015. PMID: 26220973
Neuropsychological profiles of children with cerebral palsy.
Stadskleiv K, Jahnsen R, Andersen GL, von Tetzchner S. Stadskleiv K, et al. Dev Neurorehabil. 2018 Feb;21(2):108-120. doi: 10.1080/17518423.2017.1282054. Epub 2017 Feb 21. Dev Neurorehabil. 2018. PMID: 28632466
Systematic Monitoring of Cognition for Adults With Cerebral Palsy-The Rationale Behind the Development of the CPCog-Adult Follow-Up Protocol.
Stadskleiv K, van Walsem MR, Andersen GL, Bergqvist L, Bøttcher L, Christensen K, Heyerdahl D, Hollung SJ, Høye H, Jahnsen R, Klevberg GL, Lindquist B, Passmark H, Rike PO, Rodby-Bousquet E, Alriksson-Schmidt AI. Stadskleiv K, et al. Front Neurol. 2021 Sep 22;12:710440. doi: 10.3389/fneur.2021.710440. eCollection 2021. Front Neurol. 2021. PMID: 34630285 Free PMC article.
34 results