Search Results - "Van Der Knaap, Marjo S."

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic by 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

“…Biallelic mutations in IBA57 cause a mitochondrial disorder with a broad phenotypic spectrum that ranges from severe intellectual disability to…”
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Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms by van der Knaap, Marjo S., Bugiani, Marianna

“…Leukodystrophies are genetically determined disorders characterized by the selective involvement of the central nervous system white matter. Onset may be at…”
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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study by 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

“…Summary Background Mutant mouse models suggest that the chloride channel ClC-2 has functions in ion and water homoeostasis, but this has not been confirmed in…”
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Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease by BUGIANI, Marianna, POSTMA, Nienke, POLDER, Emiel, DIELEMAN, Nikki, SCHEFFER, Peter G, SIM, Fraser J, DER KNAAP, Marjo S. Van, BOOR, Ilja

“…Vanishing white matter disease is a genetic leukoencephalopathy caused by mutations in eukaryotic translation initiation factor 2B. Patients experience a…”
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Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency by Klouwer, Femke C C, Roosendaal, Stefan D, Hollak, Carla E M, Langeveld, Mirjam, Poll-The, Bwee Tien, Sorge, Arlette J van, Wolf, Nicole I, Knaap, Marjo S van der, Engelen, Marc

“…Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads…”
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Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy by 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.

“…NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in…”
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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria by 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.

“…The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers…”
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Diagnosis, prognosis, and treatment of leukodystrophies by van der Knaap, Marjo S, Schiffmann, Raphael, Mochel, Fanny, Wolf, Nicole I

“…Leukodystrophies comprise a large group of rare genetic disorders primarily affecting CNS white matter. Historically, the diagnostic process was slow and…”
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Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series by 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

“…Abstract Context Genetic variants in SLC16A2, encoding the thyroid hormone transporter MCT8, can cause intellectual and motor disability and abnormal serum…”
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Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency by 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

“…Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases remains genetically…”
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Hypomyelinating leukodystrophies — unravelling myelin biology by Wolf, Nicole I., ffrench-Constant, Charles, van der Knaap, Marjo S.

“…Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders characterized by a primary lack of myelin deposition. Most patients with…”
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Invited Article : An MRI-based approach to the diagnosis of white matter disorders by SCHIFFMANN, Raphael, VAN DER KNAAP, Marjo S

“…There are many different white matter disorders, both inherited and acquired, and consequently the diagnostic process is difficult. Establishing a specific…”
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Vanishing white matter: a leukodystrophy due to astrocytic dysfunction by Bugiani, Marianna, Vuong, Caroline, Breur, Marjolein, van der Knaap, Marjo S.

“…VWM is one of the most prevalent leukodystrophies with unique clinical, pathological and molecular features. It mostly affects children, but may develop at all…”
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Cortical Pathology in Vanishing White Matter by 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

“…Vanishing white matter (VWM) is classified as a leukodystrophy with astrocytes as primary drivers in its pathogenesis. Magnetic resonance imaging has…”
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Genetic defects disrupting glial ion and water homeostasis in the brain by Min, Rogier, van der Knaap, Marjo S.

“…Electrical activity of neurons in the brain, caused by the movement of ions between intracellular and extracellular compartments, is the basis of all our…”
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Ubiquitous L1 Mosaicism in Hippocampal Neurons by 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.

“…Somatic LINE-1 (L1) retrotransposition during neurogenesis is a potential source of genotypic variation among neurons. As a neurogenic niche, the hippocampus…”
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Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis by van der Knaap, Marjo S, Prof, Boor, Ilja, PhD, Estévez, Raúl, Prof

“…Summary Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterised by chronic white matter oedema. The disease has an infantile onset…”
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Progress in understanding 2-hydroxyglutaric acidurias by Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis

“…The organic acidurias d -2-hydroxyglutaric aciduria (D-2-HGA), l -2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l -2-hydroxyglutaric aciduria…”
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Berardinelli-Seip syndrome and achalasia: a shared pathomechanism? by van der Pol, Rachel J., Benninga, Marc A., Magré, Jocelyne, Van Maldergem, Lionel, Rotteveel, Joost, van der Knaap, Marjo S., de Meij, Tim G.

“…Berardinelli-Seip congenital lipodystrophy (BSCL) is an uncommon autosomal recessive disorder. Patients with BSCL present with a distinct phenotype since…”
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The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature by 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.

“…Two proα1(IV) chains, encoded by COL4A1 , form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the…”
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