Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia
Schon, Katherine, van Os, Nienke J.H., Oscroft, Nicholas, Baxendale, Helen, Scoffings, Daniel, Ray, Julian, Suri, Mohnish, Whitehouse, William P., Mehta, Puja R., Everett, Natasha, Bottolo, Leonardo, Warrenburg, Bart P., Byrd, Philip J., Weemaes, Corry, Willemsen, Michel A., Tischkowitz, Marc, Taylor, A. Malcolm, Hensiek, Anke E.
Published in Annals of neurology (01.02.2019)
Published in Annals of neurology (01.02.2019)
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Journal Article
Ataxia-telangiectasia: Immunodeficiency and survival
van Os, Nienke J.H, Jansen, Anne F.M, van Deuren, Marcel, Haraldsson, Asgeir, van Driel, Nieke T.M, Etzioni, Amos, van der Flier, Michiel, Haaxma, Charlotte A, Morio, Tomohiro, Rawat, Amit, Schoenaker, Michiel H.D, Soresina, Annarosa, Taylor, Alexander M.R, van de Warrenburg, Bart P.C, Weemaes, Corry M.R, Roeleveld, Nel, Willemsen, Michèl A.A.P
Published in Clinical immunology (Orlando, Fla.) (01.05.2017)
Published in Clinical immunology (Orlando, Fla.) (01.05.2017)
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Journal Article
Preferences for genetic interventions for SCA and Huntington's disease: results of a discrete choice experiment among patients
van Os, Nienke J H, Oosterloo, Mayke, Grutters, Janneke P C, Essers, Brigitte A B, van de Warrenburg, Bart P C
Published in Orphanet journal of rare diseases (28.10.2024)
Published in Orphanet journal of rare diseases (28.10.2024)
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Journal Article
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
van Os, Nienke J H, Chessa, Luciana, Weemaes, Corry M R, van Deuren, Marcel, Fiévet, Alice, van Gaalen, Judith, Mahlaoui, Nizar, Roeleveld, Nel, Schrader, Christoph, Schindler, Detlev, Taylor, Alexander M R, Van de Warrenburg, Bart P C, Dörk, Thilo, Willemsen, Michèl A A P
Published in Journal of medical genetics (01.05.2019)
Published in Journal of medical genetics (01.05.2019)
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Journal Article
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia
Takada, Sanami, Weitering, Thomas J., van Os, Nienke J.H., Du, Likun, Pico-Knijnenburg, Ingrid, Kuipers, Thomas B., Mei, Hailiang, Salzer, Elisabeth, Willemsen, Michèl A.A.P., Weemaes, Corry M.R., Pan-Hammarstrom, Qiang, van der Burg, Mirjam
Published in Journal of allergy and clinical immunology (01.05.2024)
Published in Journal of allergy and clinical immunology (01.05.2024)
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Journal Article
Classic ataxia-telangiectasia: the phenotype of long-term survivors
van Os, Nienke J. H., van Deuren, Marcel, Weemaes, Corry M. R., van Gaalen, Judith, Hijdra, Helma, Taylor, Alexander M. R., van de Warrenburg, Bart P. C., Willemsen, Michèl A. A. P.
Published in Journal of neurology (01.03.2020)
Published in Journal of neurology (01.03.2020)
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Journal Article
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia
Veenhuis, Stefanie J.G., Os, Nienke J.H., Janssen, Anjo J.W.M., Gerven, Marjo H.J.C., Coene, Karlien L.M., Engelke, Udo. F.H., Wevers, Ron A., Tinnevelt, Gerjen H., Heine, Rob, Warrenburg, Bart P.C., Weemaes, Corry M.R., Roeleveld, Nel, Willemsen, Michèl A.A.P.
Published in Movement disorders (01.12.2021)
Published in Movement disorders (01.12.2021)
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Journal Article
Ataxia‐telangiectasia: recommendations for multidisciplinary treatment
Os, Nienke J H, Haaxma, Charlotte A, Flier, Michiel, Merkus, Peter J F M, Deuren, Marcel, Groot, Imelda J M, Loeffen, Jan, Warrenburg, Bart P C, Willemsen, Michèl A A P
Published in Developmental medicine and child neurology (01.07.2017)
Published in Developmental medicine and child neurology (01.07.2017)
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Journal Article
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia
van Os, Nienke J H, Hensiek, Anke, van Gaalen, Judith, Taylor, Alexander M R, van Deuren, Marcel, Weemaes, Corry M R, Willemsen, Michèl A A P, van de Warrenburg, Bart P C
Published in Neurology (01.01.2019)
Published in Neurology (01.01.2019)
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Journal Article
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Park, Joohyun, Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Velic, Ana, Lam, Tanya, Galanaki, Evangelia, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J.H., Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Downes, Susan M., Németh, Andrea H., Tofaris, George K., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger
Published in Genetics in medicine (01.10.2023)
Published in Genetics in medicine (01.10.2023)
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Journal Article
Genetic Interventions for Spinocerebellar Ataxia and Huntington’s Disease: A Qualitative Study of the Patient Perspective
van Os, Nienke J.H., Oosterloo, Mayke, Essers, Brigitte A.B., Grutters, Janneke P.C., van de Warrenburg, Bart P.C.
Published in Journal of Huntington's disease (10.09.2024)
Published in Journal of Huntington's disease (10.09.2024)
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Journal Article
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
Demidov, German, Laurie, Steven, Torella, Annalaura, Piluso, Giulio, Scala, Marcello, Morleo, Manuela, Nigro, Vincenzo, Graessner, Holm, Banka, Siddharth, Lohmann, Katja, Ossowski, Stephan
Published in European journal of human genetics : EJHG (01.08.2024)
Published in European journal of human genetics : EJHG (01.08.2024)
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Journal Article
Dysarthria in children and adults with ataxia telangiectasia
Veenhuis, Stefanie J G, OS, Nienke J H, Gerven, Marjo H J C, Haaften, Leenke, Mulder, Elisabeth H, Weemaes, Corry M R, Willemsen, Michèl A A P
Published in Developmental medicine and child neurology (01.04.2021)
Published in Developmental medicine and child neurology (01.04.2021)
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Journal Article
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Tucci, Arianna, Cipriani, Valentina, Demidov, German, Rocca, Clarissa, Senderek, Jan, Butryn, Michaela, Lam, Tanya, Cali, Elisa, Vestito, Letizia, Maroofian, Reza, Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Bartels, Claudius, Horvath, Rita, Chinnery, Patrick F., Tiet, May Yung, Hewamadduma, Channa, Tofaris, George K., Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Brittain, H., Caulfield, M.J., Craig, C.E.H., Daugherty, L.C., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Odhams, C.A., Patch, C., Perez-Gil, D., Pullinger, J., Rahim, T., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Tucci, A., Watters, S.A., Welland, M.J., Williams, E., Zarowiecki, M., Wood, Nicholas W., Hayer, Stefanie N., Bender, Friedemann, Menden, Benita, Cordts, Isabell, Klein, Katrin, Krauss, Joachim K., Blahak, Christian, Strom, Tim M., Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E., Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B., Hengel, Holger
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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Journal Article
An interconnected data infrastructure to support large-scale rare disease research
Johansson, Lennart F, Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, de Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marcos, Freeberg, Mallory, van de Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephan, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloes, van der Velde, K Joeri, Veal, Colin, van der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thomas, Graessner, Holm, Beltran, Sergi, Swertz, Morris A, Brookes, Anthony J
Published in Gigascience (02.01.2024)
Published in Gigascience (02.01.2024)
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Journal Article
Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings
Van Os, Nienke J.H., Van Aerde, Koen J, Van Gaalen, Judith, Merkus, Peter J, Silveira-Moriyama, Laura, Tajudin, Tajul A, Van de Warrenburg, Bart P.C., Weemaes, Corry M.R., Dekker, Marieke C, Willemsen, Michèl A.A.P.
Published in Journal of the International Child Neurology Association (02.06.2020)
Published in Journal of the International Child Neurology Association (02.06.2020)
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Journal Article
Myelitis transversa caused by neuroschistosomiasis
Machiels, Julian D, Cobussen, Maarten, Bosboom, Ron W, van Os, Nienke J H, Hageman, Albertus T M, Hassing, R
Published in Nederlands tijdschrift voor geneeskunde (03.05.2018)
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Published in Nederlands tijdschrift voor geneeskunde (03.05.2018)
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