Willemijn F E Kuper
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Explore the profile of Willemijn F E Kuper including associated specialties, affiliations and a list of published articles.
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12
Citations
114
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Recent Articles
1.
Honingh A, Kruithof Y, Kuper W, van Hasselt P, Sterkenburg P
Int J Environ Res Public Health
. 2022 May;
19(10).
PMID: 35627432
The juvenile variant of Neuronal Ceroid Lipofuscinosis (CLN3 disease/Batten disease) is a rare progressive brain disease in children and young adults, characterized by vision loss, decline in cognitive and motor...
2.
Veldman B, Kuper W, Lilien M, Schuurs-Hoeijmakers J, Marcelis C, Phan M, et al.
Am J Med Genet A
. 2021 May;
185(7):2204-2210.
PMID: 33938610
The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83...
3.
Nonkes L, Kuper W, Berrens-Hogenbirk K, Musson R, van Hasselt P, Huisman A
JIMD Rep
. 2021 Mar;
58(1):100-103.
PMID: 33728252
Quantifying lymphocyte vacuolization in peripheral blood smears (PBSs) serves as a measure for disease severity in CLN3 disease-a lysosomal storage disorder of childhood-onset. However, thus far quantification methods are based...
4.
Kuper W, Talsma H, van Schooneveld M, Pott J, Huijgen B, de Wit G, et al.
Acta Ophthalmol
. 2020 Oct;
99(4):397-404.
PMID: 33073538
Purpose: To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early-onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential...
5.
Kuper W, Oostendorp M, van den Broek B, van Veghel K, Nonkes L, Nieuwenhuis E, et al.
JIMD Rep
. 2020 Jul;
54(1):87-97.
PMID: 32685355
Background: The CLN3 disease spectrum ranges from a childhood-onset neurodegenerative disorder to a retina-only disease. Given the lack of metabolic disease severity markers, it may be difficult to provide adequate...
6.
Kuper W, van Alfen C, van Eck L, de Man S, Willemsen M, van Gassen K, et al.
JIMD Rep
. 2020 Mar;
52(1):23-27.
PMID: 32154056
Background: CLN3 disease is a disorder of lysosomal homeostasis predominantly affecting the retina and the brain. The severity of the underlying mutations in particularly determines onset and course of neurological...
7.
Gomez-Giro G, Arias-Fuenzalida J, Jarazo J, Zeuschner D, Ali M, Possemis N, et al.
Acta Neuropathol Commun
. 2020 Jan;
7(1):222.
PMID: 31888773
The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing pediatric neurodegeneration. The genetic disorder, which is caused...
8.
Kuper W, van Alfen C, van Eck L, Huijgen B, Nieuwenhuis E, van Brussel M, et al.
Neurology
. 2019 Jun;
93(3):e293-e297.
PMID: 31182507
Objective: To delineate timing of motor decline in CLN3 disease. Methods: Motor function, assessed by the 6-Minute Walk Test (6MWT), was evaluated repeatedly in 15 patients with CLN3 disease, resulting...
9.
Milev M, Graziano C, Karall D, Kuper W, Al-Deri N, Cordelli D, et al.
J Med Genet
. 2018 Aug;
55(11):753-764.
PMID: 30120216
Background: The combination of febrile illness-induced encephalopathy and rhabdomyolysis has thus far only been described in disorders that affect cellular energy status. In the absence of specific metabolic abnormalities, diagnosis...
10.
Kuper W, van Alfen C, Rigterink R, Fuchs S, van Genderen M, van Hasselt P
J Inherit Metab Dis
. 2018 Feb;
41(2):257-261.
PMID: 29392585
Background: CLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but...