Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis
Gomez-Giro, Gemma, Arias-Fuenzalida, Jonathan, Jarazo, Javier, Zeuschner, Dagmar, Ali, Muhammad, Possemis, Nina, Bolognin, Silvia, Halder, Rashi, Jäger, Christian, Kuper, Willemijn F E, van Hasselt, Peter M, Zaehres, Holm, Del Sol, Antonio, van der Putten, Herman, Schöler, Hans R, Schwamborn, Jens C
Published in Acta neuropathologica communications (30.12.2019)
Published in Acta neuropathologica communications (30.12.2019)
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Journal Article
A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration
Kuper, Willemijn F E, van Alfen, Claudia, van Eck, Linda, van den Broek, Brigitte T A, Huisman, Albert, van Genderen, Maria M, van Hasselt, Peter M
Published in JAMA ophthalmology (01.12.2017)
Published in JAMA ophthalmology (01.12.2017)
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Journal Article
The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course
Kuper, Willemijn F. E., Alfen, Claudia, Eck, Linda, Man, Stella A., Willemsen, Marjolein H., Gassen, Koen L. I., Losekoot, Monique, Hasselt, Peter M.
Published in JIMD reports (01.03.2020)
Published in JIMD reports (01.03.2020)
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Journal Article
Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity
Kuper, Willemijn F. E., Oostendorp, Marlies, van den Broek, Brigitte T. A., van Veghel, Karin, Nonkes, Lourens J. P., Nieuwenhuis, Edward E. S., Fuchs, Sabine A., Veenendaal, Tineke, Klumperman, Judith, Huisman, Albert, Nierkens, Stefan, van Hasselt, Peter M.
Published in JIMD reports (01.07.2020)
Published in JIMD reports (01.07.2020)
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Journal Article
Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease)
Nonkes, Lourens J. P., Kuper, Willemijn F. E., Berrens‐Hogenbirk, Karin, Musson, Ruben E. A., Hasselt, Peter M., Huisman, Albert
Published in JIMD reports (01.03.2021)
Published in JIMD reports (01.03.2021)
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Journal Article
Motor function impairment is an early sign of CLN3 disease
Kuper, Willemijn F E, van Alfen, Claudia, van Eck, Linda, Huijgen, Barbara C H, Nieuwenhuis, Edward E S, van Brussel, Marco, van Hasselt, Peter M
Published in Neurology (16.07.2019)
Published in Neurology (16.07.2019)
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Journal Article
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
Milev, Miroslav P, Graziano, Claudio, Karall, Daniela, Kuper, Willemijn F E, Al-Deri, Noraldin, Cordelli, Duccio Maria, Haack, Tobias B, Danhauser, Katharina, Iuso, Arcangela, Palombo, Flavia, Pippucci, Tommaso, Prokisch, Holger, Saint-Dic, Djenann, Seri, Marco, Stanga, Daniela, Cenacchi, Giovanna, van Gassen, Koen L I, Zschocke, Johannes, Fauth, Christine, Mayr, Johannes A, Sacher, Michael, van Hasselt, Peter M
Published in Journal of medical genetics (01.11.2018)
Published in Journal of medical genetics (01.11.2018)
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Journal Article
Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family
Honingh, Aline K, Kruithof, Yvonne L, Kuper, Willemijn F E, van Hasselt, Peter M, Sterkenburg, Paula S
Published in International journal of environmental research and public health (12.05.2022)
Published in International journal of environmental research and public health (12.05.2022)
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Journal Article
Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation
Kuper, Willemijn F. E., Talsma, Herman E., Schooneveld, Mary J., Pott, Jan Willem R., Huijgen, Barbara C. H., Wit, Gerard C., Hasselt, Peter M., Genderen, Maria M.
Published in Acta ophthalmologica (Oxford, England) (01.06.2021)
Published in Acta ophthalmologica (Oxford, England) (01.06.2021)
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Journal Article
Timing of cognitive decline in CLN3 disease
Kuper, Willemijn F. E., van Alfen, Claudia, Rigterink, Roeliene H., Fuchs, Sabine A., van Genderen, Maria M., van Hasselt, Peter M.
Published in Journal of inherited metabolic disease (01.03.2018)
Published in Journal of inherited metabolic disease (01.03.2018)
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Journal Article
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency
Veldman, Bram C. F., Kuper, Willemijn F. E., Lilien, Marc, Schuurs‐Hoeijmakers, Janneke H. M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., Hasselt, Peter M., Haijes, Hanneke A.
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Journal Article
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
de Sain-van der Velden, Monique G. M., Kuper, Willemijn F. E., Kuijper, Marie-Anne, van Kats, Lenneke A. T., Prinsen, Hubertus C. M. T., Balemans, Astrid C. J., Visser, Gepke, van Gassen, Koen L. I., van Hasselt, Peter M.
Published in JIMD Reports, Volume 42 (2018)
Published in JIMD Reports, Volume 42 (2018)
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Book Chapter
Journal Article
Beneficial Effect of BH 4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
de Sain-van der Velden, Monique G M, Kuper, Willemijn F E, Kuijper, Marie-Anne, van Kats, Lenneke A T, Prinsen, Hubertus C M T, Balemans, Astrid C J, Visser, Gepke, van Gassen, Koen L I, van Hasselt, Peter M
Published in JIMD reports (2018)
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Published in JIMD reports (2018)
Journal Article
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency
Veldman, Bram C F, Kuper, Willemijn F E, Lilien, Marc, Schuurs-Hoeijmakers, Janneke H M, Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E, van Hasselt, Peter M, Haijes, Hanneke A
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Report
The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course
Kuper, Willemijn F E, van Alfen, Claudia, van Eck, Linda, de Man, Stella A, Willemsen, Marjolein H, van Gassen, Koen L I, Losekoot, Monique, van Hasselt, Peter M
Published in JIMD reports (01.03.2020)
Published in JIMD reports (01.03.2020)
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Report