Riboflavin transporter deficiency in young adults unmasked by dietary changes
Jaeger, Bregje, Langeveld, Mirjam, Brunkhorst, Robert, Distelmaier, Felix, Pop, Ana, Wolf, Nicole I., Bosch, Annet M.
Published in JIMD reports (01.07.2024)
Published in JIMD reports (01.07.2024)
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Journal Article
Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire
Lionarons, Judith M., de Groot, Imelda J. M., Fock, Johanna M., Klinkenberg, Sylvia, Vrijens, Desiree M. J., Vreugdenhil, Anita C. E., Medici-van den Herik, Evita G., Cuppen, Inge, Jaeger, Bregje, Niks, Erik H., Hoogerhuis, Rinske, Platte-van Attekum, Nicky, Feron, Frans J. M., Faber, Catharina G., Hendriksen, Jos G. M., Vles, Johan S. H.
Published in Life (Basel, Switzerland) (30.07.2021)
Published in Life (Basel, Switzerland) (30.07.2021)
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Journal Article
Is the Frontal Assessment Battery reliable in ALS patients?
Raaphorst, Joost, Beeldman, Emma, Jaeger, Bregje, Schmand, Ben, van den Berg, Leonard H, Weikamp, Janneke G, Schelhaas, H Jurgen, de Visser, Marianne, de Haan, Rob J
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.01.2013)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.01.2013)
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Journal Article
Riboflavin transporter deficiency unmasked by dietary changes
Bosch, Annet, Jaeger, Bregje, Langeveld, Mirjam, Brunkhorst, Robert, Disterlmaier, Felix, Wolf, Nicole
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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Journal Article
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry
Published in Nature communications (12.07.2019)
Published in Nature communications (12.07.2019)
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Journal Article
Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy
Jaeger, Bregje, Corpeleijn, Willemijn, Dijsselhof, Monique, Goorden, Susan, Haverkamp, Jorien, Langeveld, Mirjam, Waterham, Hans, Westerbeek, Elisabeth, Bosch, Annet M.
Published in Neonatology (Basel, Switzerland) (01.12.2022)
Published in Neonatology (Basel, Switzerland) (01.12.2022)
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Journal Article
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant
Vansenne, Fleur, Fock, Johanna M., Stolte-Dijkstra, Irene, Meiners, Linda C., van den Boogaard, Marie-Jose H., Jaeger, Bregje, Boven, Ludolf, Vos, Yvonne J., Sinke, Richard J., Verbeek, Dineke S.
Published in European journal of paediatric neurology (01.11.2022)
Published in European journal of paediatric neurology (01.11.2022)
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Journal Article
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands
Reumers, Stacha F. I., Erasmus, Corrie E., Bouman, Karlijn, Pennings, Maartje, Schouten, Meyke, Kusters, Benno, Duijkers, Floor A. M., Kooi, Anneke, Jaeger, Bregje, Verschuuren‐Bemelmans, Corien C., Faber, Catharina G., Engelen, Baziel G., Kamsteeg, Erik‐Jan, Jungbluth, Heinz, Voermans, Nicol C.
Published in Clinical genetics (01.12.2021)
Published in Clinical genetics (01.12.2021)
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Journal Article
Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid
Lubout, Charlotte M.A., Goorden, Susanna M.I., van den Hurk, Karin, Jaeger, Bregje, Jager, Nynke G.L., van Koningsbruggen, Silvana, Chegary, Malika, van Karnebeek, Clara D.M.
Published in Pediatric neurology (01.01.2020)
Published in Pediatric neurology (01.01.2020)
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Journal Article
Respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies
Jaeger, Bregje, de Visser, Marianne, Aronica, Eleonora, van der Kooi, Anneke J
Published in Neuromuscular disorders : NMD (01.06.2015)
Published in Neuromuscular disorders : NMD (01.06.2015)
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Journal Article
The verbal fluency index: Dutch normative data for cognitive testing in ALS
Beeldman, Emma, Jaeger, Bregje, Raaphorst, Joost, Seelen, Meinie, Veldink, Jan, van den Berg, Leonard, de Visser, Marianne, Schmand, Ben
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.09.2014)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.09.2014)
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Journal Article
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
van Dijk, Tessa, van Ruissen, Fred, Jaeger, Bregje, Rodenburg, Richard J., Tamminga, Saskia, van Maarle, Merel, Baas, Frank, Wolf, Nicole I., Poll-The, Bwee Tien
Published in JIMD Reports, Volume 33 (01.01.2017)
Published in JIMD Reports, Volume 33 (01.01.2017)
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