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Year Number of Results
2017 1
2018 3
2019 2
2020 3
2021 3
2022 1
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Page 1
Timing of cognitive decline in CLN3 disease.
Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM. Kuper WFE, et al. J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1. J Inherit Metab Dis. 2018. PMID: 29392585 Free PMC article.
Motor function impairment is an early sign of CLN3 disease.
Kuper WFE, van Alfen C, van Eck L, Huijgen BCH, Nieuwenhuis EES, van Brussel M, van Hasselt PM. Kuper WFE, et al. Neurology. 2019 Jul 16;93(3):e293-e297. doi: 10.1212/WNL.0000000000007773. Epub 2019 Jun 10. Neurology. 2019. PMID: 31182507
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.
Kuper WFE, Oostendorp M, van den Broek BTA, van Veghel K, Nonkes LJP, Nieuwenhuis EES, Fuchs SA, Veenendaal T, Klumperman J, Huisman A, Nierkens S, van Hasselt PM. Kuper WFE, et al. JIMD Rep. 2020 Jun 2;54(1):87-97. doi: 10.1002/jmd2.12128. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685355 Free PMC article.
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
Veldman BCF, Kuper WFE, Lilien M, Schuurs-Hoeijmakers JHM, Marcelis C, Phan M, Hettinga Y, Talsma HE, van Hasselt PM, Haijes HA. Veldman BCF, et al. Among authors: kuper wfe. Am J Med Genet A. 2021 Jul;185(7):2204-2210. doi: 10.1002/ajmg.a.62225. Epub 2021 May 3. Am J Med Genet A. 2021. PMID: 33938610 Free PMC article.
Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.
Gomez-Giro G, Arias-Fuenzalida J, Jarazo J, Zeuschner D, Ali M, Possemis N, Bolognin S, Halder R, Jäger C, Kuper WFE, van Hasselt PM, Zaehres H, Del Sol A, van der Putten H, Schöler HR, Schwamborn JC. Gomez-Giro G, et al. Among authors: kuper wfe. Acta Neuropathol Commun. 2019 Dec 30;7(1):222. doi: 10.1186/s40478-019-0871-7. Acta Neuropathol Commun. 2019. PMID: 31888773 Free PMC article.
12 results