The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
Nijmeijer, Stephanie C M, van den Born, L Ingeborg, Kievit, Anneke J A, Stepien, Karolina M, Langendonk, Janneke, Marchal, Jan Pieter, Roosing, Susanne, Wijburg, Frits A, Wagenmakers, Margreet A E M
Published in Orphanet journal of rare diseases (12.11.2019)
Published in Orphanet journal of rare diseases (12.11.2019)
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Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
de Muijnck, Cansu, Haer-Wigman, Lonneke, van Everdingen, Judith A. M., Lushchyk, Tanya, Heutinck, Pam A. T., van Dooren, Marieke F., Kievit, Anneke J. A., Verhoeven, Virginie J. M., Simon, Marleen E. H., Wasmann, Rosemarie A., Notting, Irene C., De Baere, Elfride, Walraedt, Sophie, De Zaeytijd, Julie, Van den Broeck, Filip, Leroy, Bart P., Boon, Camiel J. F., van Genderen, Maria M.
Published in Scientific reports (03.10.2024)
Published in Scientific reports (03.10.2024)
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Whole exome sequencing of known eye genes reveals genetic causes for high myopia
Haarman, Annechien E G, Thiadens, Alberta A H J, van Tienhoven, Marianne, Loudon, Sjoukje E, de Klein, J E M M Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J A, Hoefsloot, Lies H, Klaver, Caroline C W, Verhoeven, Virginie J M
Published in Human molecular genetics (29.09.2022)
Published in Human molecular genetics (29.09.2022)
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Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations
Nellist, Mark, Brouwer, Rutger W W, Kockx, Christel E M, van Veghel-Plandsoen, Monique, Withagen-Hermans, Caroline, Prins-Bakker, Lida, Hoogeveen-Westerveld, Marianne, Mrsic, Alan, van den Berg, Mike M P, Koopmans, Anna E, de Wit, Marie-Claire, Jansen, Floor E, Maat-Kievit, Anneke J A, van den Ouweland, Ans, Halley, Dicky, de Klein, Annelies, van IJcken, Wilfred F J
Published in BMC medical genetics (25.02.2015)
Published in BMC medical genetics (25.02.2015)
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LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson’s disease and dementia with Lewy bodies
Grochowska, Martyna M., Carreras Mascaro, Ana, Boumeester, Valerie, Natale, Domenico, Breedveld, Guido J., Geut, Hanneke, van Cappellen, Wiggert A., Boon, Agnita J. W., Kievit, Anneke J. A., Sammler, Esther, Parchi, Piero, Cortelli, Pietro, Alessi, Dario R., van de Berg, Wilma D. J., Bonifati, Vincenzo, Mandemakers, Wim
Published in Acta neuropathologica (01.07.2021)
Published in Acta neuropathologica (01.07.2021)
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Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene
Mazijk, Ralph, Haarman, Annechien E.G., Hoefsloot, Lies H., Polling, Jan R., Tienhoven, Marianne, Klaver, Caroline C.W., Verhoeven, Virginie J.M., Loudon, Sjoukje E., Thiadens, Alberta A.H.J., Kievit, Anneke J.A.
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Dingemans, Alexander J. M., Truijen, Kim M. G., van de Ven, Sam, Bernier, Raphael, Bongers, Ernie M. H. F., Bouman, Arjan, de Graaff – Herder, Laura, Eichler, Evan E., Gerkes, Erica H., De Geus, Christa M., van Hagen, Johanna M., Jansen, Philip R., Kerkhof, Jennifer, Kievit, Anneke J. A., Kleefstra, Tjitske, Maas, Saskia M., de Man, Stella A., McConkey, Haley, Patterson, Wesley G., Dobson, Amy T., Prijoles, Eloise J., Sadikovic, Bekim, Relator, Raissa, Stevenson, Roger E., Stumpel, Connie T. R. M., Heijligers, Malou, Stuurman, Kyra E., Löhner, Katharina, Zeidler, Shimriet, Lee, Jennifer A., Lindy, Amanda, Zou, Fanggeng, Tedder, Matthew L., Vissers, Lisenka E. L. M., de Vries, Bert B. A.
Published in Translational psychiatry (01.10.2022)
Published in Translational psychiatry (01.10.2022)
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Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)
Sun, Yu, Almomani, Rowida, Breedveld, Guido J., Santen, Gijs W.E., Aten, Emmelien, Lefeber, Dirk J., Hoff, Jorrit I., Brusse, Esther, Verheijen, Frans W., Verdijk, Rob M., Kriek, Marjolein, Oostra, Ben, Breuning, Martijn H., Losekoot, Monique, den Dunnen, Johan T., van de Warrenburg, Bart P., Maat-Kievit, Anneke J.A.
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis
Bouwkamp, Christian G., Kievit, Anneke J. A., Olgiati, Simone, Breedveld, Guido J., Coesmans, Michiel, Bonifati, Vincenzo, Kushner, Steven A.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.04.2017)
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Mutations in TMEM230 are not a common cause of Parkinson's disease
Quadri, Marialuisa, Breedveld, Guido J., Chang, Hsiu‐Chen, Yeh, Tu‐Hsueh, Guedes, Leonor Correia, Toni, Vincenzo, Fabrizio, Edito, De Mari, Michele, Thomas, Astrid, Tassorelli, Cristina, Rood, Janneke P.M.A., Saddi, Valeria, Chien, Hsin Fen, Kievit, Anneke J.A., Boon, Agnita J.W., Stocchi, Fabrizio, Lopiano, Leonardo, Abbruzzese, Giovanni, Cortelli, Pietro, Meco, Giuseppe, Cossu, Giovanni, Barbosa, Egberto Reis, Ferreira, Joaquim J., Lu, Chin‐Song, Bonifati, Vincenzo
Published in Movement disorders (01.02.2017)
Published in Movement disorders (01.02.2017)
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Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects
Seong, Eunju, Insolera, Ryan, Dulovic, Marija, Kamsteeg, Erik‐Jan, Trinh, Joanne, Brüggemann, Norbert, Sandford, Erin, Li, Sheng, Ozel, Ayse Bilge, Li, Jun Z., Jewett, Tamison, Kievit, Anneke J. A., Münchau, Alexander, Shakkottai, Vikram, Klein, Christine, Collins, Catherine A., Lohmann, Katja, Warrenburg, Bart P., Burmeister, Margit
Published in Annals of neurology (01.06.2018)
Published in Annals of neurology (01.06.2018)
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Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study
Panman, Jessica L., Jiskoot, Lize C., Bouts, Mark J.R.J., Meeter, Lieke H.H., van der Ende, Emma L., Poos, Jackie M., Feis, Rogier A., Kievit, Anneke J.A., van Minkelen, Rick, Dopper, Elise G.P., Rombouts, Serge A.R.B., van Swieten, John C., Papma, Janne M.
Published in Neurobiology of aging (01.04.2019)
Published in Neurobiology of aging (01.04.2019)
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DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease
Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P.M.A., Saute, Jonas A., Chien, Hsin Fen, Bouwkamp, Christian G., Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J., Zhang, Jianguo, Verheijen, Frans W., Boon, Agnita J.W., Kievit, Anneke J.A., Jardim, Laura Bannach, Mandemakers, Wim, Barbosa, Egberto Reis, Rieder, Carlos R.M., Leenders, Klaus L., Wang, Jun, Bonifati, Vincenzo
Published in Annals of neurology (01.02.2016)
Published in Annals of neurology (01.02.2016)
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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Usmani, Muhammad A., Ahmed, Zubair M., Magini, Pamela, Pienkowski, Victor Murcia, Rasmussen, Kristen J., Hernan, Rebecca, Rasheed, Faiza, Hussain, Mureed, Shahzad, Mohsin, Lanpher, Brendan C., Niu, Zhiyv, Lim, Foong-Yen, Pippucci, Tommaso, Ploski, Rafal, Kraus, Verena, Matuszewska, Karolina, Palombo, Flavia, Kianmahd, Jessica, Martinez-Agosto, Julian A., Lee, Hane, Colao, Emma, Motazacker, M. Mahdi, Brigatti, Karlla W., Puffenberger, Erik G., Riazuddin, S. Amer, Gonzaga-Jauregui, Claudia, Chung, Wendy K., Wagner, Matias, Schultz, Matthew J., Seri, Marco, Kievit, Anneke J.A., Perrotti, Nicola, Klein Wassink-Ruiter, J.S., van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G., van Veghel-Plandsoen, Monique M., Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M.A., Geeven, Geert, Saris, Jasper J., van Ierland, Yvette, Verheijen, Frans W., van der Sterre, Marianne L.T., Sadeghi Niaraki, Farah, Smits, Daphne J., Huidekoper, Hidde H., Williams, Monique, Wilke, Martina, Verhoeven, Virginie J.M., Joosten, Marieke, Kievit, Anneke J.A., van de Laar, Ingrid M.B.H., Hoefsloot, Lies H., Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M.S., van Ham, Tjakko J.
Published in American journal of human genetics (02.02.2023)
Published in American journal of human genetics (02.02.2023)
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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients
Mol, Merel O., van Rooij, Jeroen G.J., Wong, Tsz H., Melhem, Shamiram, Verkerk, Annemieke J.M.H., Kievit, Anneke J.A., van Minkelen, Rick, Rademakers, Rosa, Pottier, Cyril, Kaat, Laura Donker, Seelaar, Harro, van Swieten, John C., Dopper, Elise G.P.
Published in Neurobiology of aging (01.01.2021)
Published in Neurobiology of aging (01.01.2021)
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