Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
Hamanaka, Kohei, Miyatake, Satoko, Zerem, Ayelet, Lev, Dorit, Blumkin, Luba, Yokochi, Kenji, Fujita, Atsushi, Imagawa, Eri, Iwama, Kazuhiro, Nakashima, Mitsuko, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Saitsu, Hirotomo, van der Knaap, Marjo S, Lerman-Sagie, Tally, Matsumoto, Naomichi
Published in Journal of human genetics (01.12.2018)
Published in Journal of human genetics (01.12.2018)
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Journal Article
Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease
BUGIANI, Marianna, POSTMA, Nienke, POLDER, Emiel, DIELEMAN, Nikki, SCHEFFER, Peter G, SIM, Fraser J, DER KNAAP, Marjo S. Van, BOOR, Ilja
Published in Brain (London, England : 1878) (2013)
Published in Brain (London, England : 1878) (2013)
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Journal Article
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
Depienne, Christel, Dr, Bugiani, Marianna, MD, Dupuits, Céline, MSc, Galanaud, Damien, Prof, Touitou, Valérie, Postma, Nienke, van Berkel, Carola, Polder, Emiel, Tollard, Eleonore, MD, Darios, Frédéric, PhD, Brice, Alexis, Prof, de Die-Smulders, Christine E, Prof, Vles, Johannes S, Prof, Vanderver, Adeline, MD, Uziel, Graziella, MD, Yalcinkaya, Cengiz, Prof, Frints, Suzanna G, MD, Kalscheuer, Vera M, PhD, Klooster, Jan, MSc, Kamermans, Maarten, Prof, Abbink, Truus EM, PhD, Wolf, Nicole I, MD, Sedel, Frédéric, MD, van der Knaap, Marjo S, Prof
Published in Lancet neurology (01.07.2013)
Published in Lancet neurology (01.07.2013)
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Journal Article
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy
Helman, Guy, Zarekiani, Parand, Tromp, Samantha A.M., Andrews, Ashley, Botto, Lorenzo D., Bonkowsky, Joshua L., Chassevent, Anna, Giorgio, Elisa, Pippucci, Tommaso, Wei, Shen, Smith‐Hicks, Constance, Vaula, Giovanna, Willemsen, Michèl A.A.P, Schimmel, Mareike, Vollert, Kurt, Shimizu, Fumitaka, Kanda, Takashi, Lynch, Matthew, Roscioli, Tony, Taft, Ryan J., Simons, Cas, Bugiani, Marianna, Kuijpers, Taco W., Knaap, Marjo S.
Published in Annals of neurology (01.11.2022)
Published in Annals of neurology (01.11.2022)
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Journal Article
Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series
van Geest, Ferdy S, Meima, Marcel E, Stuurman, Kyra E, Wolf, Nicole I, van der Knaap, Marjo S, Lorea, Cláudia F, Poswar, Fabiano O, Vairo, Filippo, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Bakhtiani, Priyanka, de Munnik, Sonja A, Peeters, Robin P, Visser, W Edward, Groeneweg, Stefan
Published in The journal of clinical endocrinology and metabolism (01.02.2021)
Published in The journal of clinical endocrinology and metabolism (01.02.2021)
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Journal Article
Diagnosis, prognosis, and treatment of leukodystrophies
van der Knaap, Marjo S, Schiffmann, Raphael, Mochel, Fanny, Wolf, Nicole I
Published in Lancet neurology (01.10.2019)
Published in Lancet neurology (01.10.2019)
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Journal Article
Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article
Hypomyelinating leukodystrophies - unravelling myelin biology
Wolf, Nicole I, Ffrench-Constant, Charles, van der Knaap, Marjo S
Published in Nature reviews. Neurology (01.02.2021)
Published in Nature reviews. Neurology (01.02.2021)
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Journal Article
Cortical Pathology in Vanishing White Matter
Man, Jodie H K, van Gelder, Charlotte A G H, Breur, Marjolein, Okkes, Daniel, Molenaar, Douwe, van der Sluis, Sophie, Abbink, Truus, Altelaar, Maarten, van der Knaap, Marjo S, Bugiani, Marianna
Published in Cells (Basel, Switzerland) (01.11.2022)
Published in Cells (Basel, Switzerland) (01.11.2022)
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Journal Article
Vanishing white matter: a leukodystrophy due to astrocytic dysfunction
Bugiani, Marianna, Vuong, Caroline, Breur, Marjolein, van der Knaap, Marjo S.
Published in Brain pathology (Zurich, Switzerland) (01.05.2018)
Published in Brain pathology (Zurich, Switzerland) (01.05.2018)
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Journal Article
Genetic defects disrupting glial ion and water homeostasis in the brain
Min, Rogier, van der Knaap, Marjo S.
Published in Brain pathology (Zurich, Switzerland) (01.05.2018)
Published in Brain pathology (Zurich, Switzerland) (01.05.2018)
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Journal Article
Ubiquitous L1 Mosaicism in Hippocampal Neurons
Upton, Kyle R., Gerhardt, Daniel J., Jesuadian, J. Samuel, Richardson, Sandra R., Sánchez-Luque, Francisco J., Bodea, Gabriela O., Ewing, Adam D., Salvador-Palomeque, Carmen, van der Knaap, Marjo S., Brennan, Paul M., Vanderver, Adeline, Faulkner, Geoffrey J.
Published in Cell (09.04.2015)
Published in Cell (09.04.2015)
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Journal Article
Progress in understanding 2-hydroxyglutaric acidurias
Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis
Published in Journal of inherited metabolic disease (01.07.2012)
Published in Journal of inherited metabolic disease (01.07.2012)
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Journal Article
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
Meuwissen, Marije E C, Halley, Dicky J J, Smit, Liesbeth S, Lequin, Maarten H, Cobben, Jan M, de Coo, René, van Harssel, Jeske, Sallevelt, Suzanne, Woldringh, Gwendolyn, van der Knaap, Marjo S, de Vries, Linda S, Mancini, Grazia M S
Published in Genetics in medicine (01.11.2015)
Published in Genetics in medicine (01.11.2015)
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Journal Article