Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis von 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

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A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration von 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

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Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity von 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.

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Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease) von Nonkes, Lourens J. P., Kuper, Willemijn F. E., Berrens‐Hogenbirk, Karin, Musson, Ruben E. A., Hasselt, Peter M., Huisman, Albert

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The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course von Kuper, Willemijn F. E., Alfen, Claudia, Eck, Linda, Man, Stella A., Willemsen, Marjolein H., Gassen, Koen L. I., Losekoot, Monique, Hasselt, Peter M.

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Motor function impairment is an early sign of CLN3 disease von 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

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Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation von 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.

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Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency von 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.

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Timing of cognitive decline in CLN3 disease von Kuper, Willemijn F. E., van Alfen, Claudia, Rigterink, Roeliene H., Fuchs, Sabine A., van Genderen, Maria M., van Hasselt, Peter M.

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Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family von Honingh, Aline K, Kruithof, Yvonne L, Kuper, Willemijn F E, van Hasselt, Peter M, Sterkenburg, Paula S

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Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12 von 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.

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Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family von Honingh, Aline K, Kruithof, Yvonne L, Kuper, Willemijn F E, van Hasselt, Peter M, Sterkenburg, Paula S

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Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation von Kuper, Willemijn F E, Talsma, Herman E, van Schooneveld, Mary J, Pott, Jan Willem R, Huijgen, Barbara C H, de Wit, Gerard C, van Hasselt, Peter M, van Genderen, Maria M

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Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease) von Nonkes, Lourens J P, Kuper, Willemijn F E, Berrens-Hogenbirk, Karin, Musson, Ruben E A, van Hasselt, Peter M, Huisman, Albert

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The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course von 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

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Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity von 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

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Beneficial Effect of BH 4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12 von 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

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Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency von 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

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The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course von 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

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