White matter disorders in children: from magnetic resonance to basic defect and treatment
Focus van het onderzoek betreft ziekten van de witte stof van de hersenen bij kinderen. Ca 1:1000-2000 kinderen heeft wittestofafwijkingen. Vaak kan de oorzaak niet worden gevonden. De meeste ziekten zijn erfelijk en progressief.
Wij richten ons op ongeclassificeerde wittestofziekten, definiëren daaronder “nieuwe” ziekten obv kenmerkende patronen van afwijkingen op hersenscans. Wij hebben veel kleine groepjes patiënten met dezelfde nieuwe ziekte en gaan met een nieuwe techniek, “totale genoom analyse”, de verantwoordelijke genen zoeken. “Vanishing white matter” (VWM) is een eerder ontdekte nieuwe wittestofziekte. Wij hebben in 2001 5 genen gevonden die met VWM geassocieerd zijn. Zij coderen voor de onderdelen van “eIF2B”, onmisbaar voor eiwitsynthese in het lichaam en die bepaalt hoeveel eiwit gemaakt wordt. Wij begrijpen niet waarom bij VWM specifiek de hersenen zijn getroffen en binnen de hersenen specifieke celtypes. Wij gaan onderzoeken welke eiwitten bij VWM minder of juist meer gevormd worden en gebruiken daarvoor nieuwe technieken: “pulsed SILAC” en “ribosomale profilering”. Met de informatie kbegrijpen we beter hoe VWM werkt.
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Titel: Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Auteur: Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS.
Magazine: Brain
Auteur: Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS.
Magazine: Brain
Titel: Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Auteur: Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI.
Magazine: Annals of Clinical and Translational Neurology
Auteur: Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI.
Magazine: Annals of Clinical and Translational Neurology
Titel: Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency.
Auteur: Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M.
Magazine: American Journal of Human Genetics
Auteur: Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M.
Magazine: American Journal of Human Genetics
Titel: Update on Leukodystrophies: A Historical Perspective and Adapted Definition
Auteur: Kevelam, Sietske, Steenweg, Marjan, Srivastava, Siddharth, Helman, Guy, Naidu, Sakkubai, Schiffmann, Raphael, Blaser, Susan, Vanderver, Adeline, Wolf, Nicole, van der Knaap, Marjo
Magazine: Neuropediatrics
Auteur: Kevelam, Sietske, Steenweg, Marjan, Srivastava, Siddharth, Helman, Guy, Naidu, Sakkubai, Schiffmann, Raphael, Blaser, Susan, Vanderver, Adeline, Wolf, Nicole, van der Knaap, Marjo
Magazine: Neuropediatrics
Titel: Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Auteur: Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M.
Magazine: Brain
Auteur: Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M.
Magazine: Brain
Titel: LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy.
Auteur: Kevelam SH, van Engelen BG, van Berkel CG, Küsters B, van der Knaap MS.
Magazine: Muscle and Nerve
Auteur: Kevelam SH, van Engelen BG, van Berkel CG, Küsters B, van der Knaap MS.
Magazine: Muscle and Nerve
Titel: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance
Auteur: Peeters-Scholte, Cacha M P C D, Adama van Scheltema, Phebe N, Klumper, Frans J C M, Everwijn, Sheila M P, Koopmans, Marije, Hoffer, Mariette J V, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Steggerda, Sylke J, van der Knaap, Marjo S, Santen, Gijs W E
Magazine: Brain
Auteur: Peeters-Scholte, Cacha M P C D, Adama van Scheltema, Phebe N, Klumper, Frans J C M, Everwijn, Sheila M P, Koopmans, Marije, Hoffer, Mariette J V, Koopmann, Tamara T, Ruivenkamp, Claudia A L, Steggerda, Sylke J, van der Knaap, Marjo S, Santen, Gijs W E
Magazine: Brain
Titel: LYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
Auteur: Dallabona, Cristina, Abbink, Truus E. M., Carrozzo, Rosalba, Torraco, Alessandra, Legati, Andrea, van Berkel, Carola G. M., Niceta, Marcello, Langella, Tiziana, Verrigni, Daniela, Rizza, Teresa, Diodato, Daria, Piemonte, Fiorella, Lamantea, Eleonora, Fang, Mingyan, Zhang, Jianguo, Martinelli, Diego, Bevivino, Elsa, Dionisi-Vici, Carlo, Vanderver, Adeline, Philip, Sunny G., Kurian, Manju A., Verma, Ishwar C., Bijarnia-Mahay, Sunita, Jacinto, Sandra, Furtado, Fatima, Accorsi, Patrizia, Ardissone,
Magazine: Brain
Auteur: Dallabona, Cristina, Abbink, Truus E. M., Carrozzo, Rosalba, Torraco, Alessandra, Legati, Andrea, van Berkel, Carola G. M., Niceta, Marcello, Langella, Tiziana, Verrigni, Daniela, Rizza, Teresa, Diodato, Daria, Piemonte, Fiorella, Lamantea, Eleonora, Fang, Mingyan, Zhang, Jianguo, Martinelli, Diego, Bevivino, Elsa, Dionisi-Vici, Carlo, Vanderver, Adeline, Philip, Sunny G., Kurian, Manju A., Verma, Ishwar C., Bijarnia-Mahay, Sunita, Jacinto, Sandra, Furtado, Fatima, Accorsi, Patrizia, Ardissone,
Magazine: Brain
Titel: Recessive ITPA mutations cause an early infantile encephalopathy.
Auteur: Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS.
Magazine: Annals of Neurology
Auteur: Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS.
Magazine: Annals of Neurology
Titel: Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study
Auteur: Stellitano, Lesley A, Winstone, Anne Marie, van der Knaap, Marjo S, Verity, Christopher M
Magazine: Developmental Medicine and Child Neurology
Auteur: Stellitano, Lesley A, Winstone, Anne Marie, van der Knaap, Marjo S, Verity, Christopher M
Magazine: Developmental Medicine and Child Neurology
Titel: A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Auteur: Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. 2013; 2;92: 767-773
Magazine: American Journal of Human Genetics
Auteur: Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. 2013; 2;92: 767-773
Magazine: American Journal of Human Genetics
Titel: Novel (ovario) leukodystrophy related to AARS2 mutations.
Auteur: Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS.
Magazine: Neurology
Auteur: Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS.
Magazine: Neurology
Titel: Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings
Auteur: Song, Hannah, Haeri, Sina, Vogel, Hannes, van der Knaap, Marjo, Van Haren, Keith
Magazine: Journal of Child Neurology
Auteur: Song, Hannah, Haeri, Sina, Vogel, Hannes, van der Knaap, Marjo, Van Haren, Keith
Magazine: Journal of Child Neurology
Titel: Whole exome sequencing in patients with white matter abnormalities
Auteur: Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Geneviève, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani, Ramos, Erica, Chowdhury, Shimul, Hambuch, Tina, Ru, Kelin, Baillie, Gregory J., Grimmond, Sean M., Caldovic, Ljubica, Devaney, Joseph, Bloom, Miriam, Evans, Sarah H., Murphy, Jennifer L. P., McNeill, Nathan, Fogel, Brent L., Schiffmann, Raphael, van der Knaap, Marjo S., Taft, Ryan J.
Magazine: Annals of Neurology
Auteur: Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Geneviève, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani, Ramos, Erica, Chowdhury, Shimul, Hambuch, Tina, Ru, Kelin, Baillie, Gregory J., Grimmond, Sean M., Caldovic, Ljubica, Devaney, Joseph, Bloom, Miriam, Evans, Sarah H., Murphy, Jennifer L. P., McNeill, Nathan, Fogel, Brent L., Schiffmann, Raphael, van der Knaap, Marjo S., Taft, Ryan J.
Magazine: Annals of Neurology
Titel: Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Auteur: Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G.
Magazine: Nature Communications
Auteur: Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G.
Magazine: Nature Communications
Titel: Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)
Auteur: Bugiani, Marianna, Kevelam, Sietske H., Bakels, Hannah S., Waisfisz, Quinten, Ceuterick-de Groote, Chantal, Niessen, Hans W.M., Abbink, Truus E.M., Lesnik Oberstein, Saskia A.M.J., van der Knaap, Marjo S.
Magazine: Neurology
Auteur: Bugiani, Marianna, Kevelam, Sietske H., Bakels, Hannah S., Waisfisz, Quinten, Ceuterick-de Groote, Chantal, Niessen, Hans W.M., Abbink, Truus E.M., Lesnik Oberstein, Saskia A.M.J., van der Knaap, Marjo S.
Magazine: Neurology
Titel: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Auteur: Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Li
Magazine: Nature Genetics
Auteur: Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Li
Magazine: Nature Genetics
Titel: Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL
Auteur: Fock, Johanna, Salomons, Gajja, Bugiani, Marianna, Kevelam, Sietske, Klouwer, Femke, van der Knaap, Marjo
Magazine: Neuropediatrics
Auteur: Fock, Johanna, Salomons, Gajja, Bugiani, Marianna, Kevelam, Sietske, Klouwer, Femke, van der Knaap, Marjo
Magazine: Neuropediatrics
Titel: UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
Auteur: Hamilton, Eline M.C., Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojcáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M., Diodato, Daria, Pinelli, Lorenzo, van der Meij, Nathalie L., Plecko, Barbara, Blaser, Susan, Wolf, Nicole I., Waisfisz, Quinten, Abbink, Truus E.M., van der Knaap, Marjo S.
Magazine: Neurology
Auteur: Hamilton, Eline M.C., Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojcáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M., Diodato, Daria, Pinelli, Lorenzo, van der Meij, Nathalie L., Plecko, Barbara, Blaser, Susan, Wolf, Nicole I., Waisfisz, Quinten, Abbink, Truus E.M., van der Knaap, Marjo S.
Magazine: Neurology
Titel: TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
Auteur: Curiel, Julian, Rodríguez Bey, Guillermo, Takanohashi, Asako, Bugiani, Marianna, Fu, Xiaoqin, Wolf, Nicole I, Nmezi, Bruce, Schiffmann, Raphael, Bugaighis, Mona, Pierson, Tyler, Helman, Guy, Simons, Cas, van der Knaap, Marjo S, Liu, Judy, Padiath, Quasar, Vanderver, Adeline
Magazine: Human Molecular Genetics
Auteur: Curiel, Julian, Rodríguez Bey, Guillermo, Takanohashi, Asako, Bugiani, Marianna, Fu, Xiaoqin, Wolf, Nicole I, Nmezi, Bruce, Schiffmann, Raphael, Bugaighis, Mona, Pierson, Tyler, Helman, Guy, Simons, Cas, van der Knaap, Marjo S, Liu, Judy, Padiath, Quasar, Vanderver, Adeline
Magazine: Human Molecular Genetics
Titel: Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy
Auteur: Naik, Neeta, Shah, Ami, Wamelink, Mirjam M.C., van der Knaap, Marjo S., Hingwala, Divyata
Magazine: Neurology
Auteur: Naik, Neeta, Shah, Ami, Wamelink, Mirjam M.C., van der Knaap, Marjo S., Hingwala, Divyata
Magazine: Neurology
Titel: Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
Auteur: Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS.
Magazine: American Journal of Human Genetics
Auteur: Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS.
Magazine: American Journal of Human Genetics
Titel: A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination
Auteur: Duncan, Ian D., Bugiani, Marianna, Radcliff, Abigail B., Moran, John J., Lopez-Anido, Camila, Duong, Phu, August, Benjamin K., Wolf, Nicole I., van der Knaap, Marjo S., Svaren, John
Magazine: Annals of Neurology
Auteur: Duncan, Ian D., Bugiani, Marianna, Radcliff, Abigail B., Moran, John J., Lopez-Anido, Camila, Duong, Phu, August, Benjamin K., Wolf, Nicole I., van der Knaap, Marjo S., Svaren, John
Magazine: Annals of Neurology
Titel: Stem cell therapy for white matter disorders: don’t forget the microenvironment!
Auteur: Dooves, Stephanie, van der Knaap, Marjo S., Heine, Vivi M.
Magazine: Journal of Inherited Metabolic Disease
Auteur: Dooves, Stephanie, van der Knaap, Marjo S., Heine, Vivi M.
Magazine: Journal of Inherited Metabolic Disease
Titel: Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations
Auteur: Zeydan, Burcu, Uygunoglu, Ugur, Altintas, Ayse, Saip, Sabahattin, Siva, Aksel, Abbink, Truus E.M. , van der Knaap, Marjo S. , Yalcinkaya, Cengiz
Magazine: European Neurology
Auteur: Zeydan, Burcu, Uygunoglu, Ugur, Altintas, Ayse, Saip, Sabahattin, Siva, Aksel, Abbink, Truus E.M. , van der Knaap, Marjo S. , Yalcinkaya, Cengiz
Magazine: European Neurology
Titel: Diffuse hypomyelination is not obligate for POLR3-related disorders
Auteur: La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T., Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkinay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Geneviève
Magazine: Neurology
Auteur: La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T., Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkinay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Geneviève
Magazine: Neurology
Titel: Astrocytes are central in the pathomechanisms of vanishing white matter
Auteur: Dooves, Stephanie, Bugiani, Marianna, Postma, Nienke L., Polder, Emiel, Land, Niels, Horan, Stephen T., van Deijk, Anne-Lieke F., van de Kreeke, Aleid, Jacobs, Gerbren, Vuong, Caroline, Klooster, Jan, Kamermans, Maarten, Wortel, Joke, Loos, Maarten, Wisse, Lisanne E., Scheper, Gert C., Abbink, Truus E.M., Heine, Vivi M., van der Knaap, Marjo S.
Magazine: Journal of Clinical Investigation
Auteur: Dooves, Stephanie, Bugiani, Marianna, Postma, Nienke L., Polder, Emiel, Land, Niels, Horan, Stephen T., van Deijk, Anne-Lieke F., van de Kreeke, Aleid, Jacobs, Gerbren, Vuong, Caroline, Klooster, Jan, Kamermans, Maarten, Wortel, Joke, Loos, Maarten, Wisse, Lisanne E., Scheper, Gert C., Abbink, Truus E.M., Heine, Vivi M., van der Knaap, Marjo S.
Magazine: Journal of Clinical Investigation
Titel: NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Auteur: Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS.
Magazine: Neurology
Auteur: Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS.
Magazine: Neurology
Titel: DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder
Auteur: Wolf, N. I., Toro, C., Kister, I., Latif, K. A., Leventer, R., Pizzino, A., Simons, C., Abbink, T. E. M., Taft, R. J., van der Knaap, M. S., Vanderver, A.
Magazine: Neurology
Auteur: Wolf, N. I., Toro, C., Kister, I., Latif, K. A., Leventer, R., Pizzino, A., Simons, C., Abbink, T. E. M., Taft, R. J., van der Knaap, M. S., Vanderver, A.
Magazine: Neurology
Titel: Acute intermittent porphyria-related leukoencephalopathy
Auteur: Kevelam, Sietske H., Neeleman, Rochus A., Waisfisz, Quinten, Friesema, Edith C.H., Langendonk, Janneke G., van der Knaap, Marjo S.
Magazine: Neurology
Auteur: Kevelam, Sietske H., Neeleman, Rochus A., Waisfisz, Quinten, Friesema, Edith C.H., Langendonk, Janneke G., van der Knaap, Marjo S.
Magazine: Neurology
Titel: Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms
Auteur: van der Knaap, Marjo S., Bugiani, Marianna
Magazine: Acta Neuropathologica
Auteur: van der Knaap, Marjo S., Bugiani, Marianna
Magazine: Acta Neuropathologica
Titel: Mutations in RARS cause hypomyelination.
Auteur: Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q.
Magazine: Annals of Neurology
Auteur: Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q.
Magazine: Annals of Neurology
Titel: Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Auteur: Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI.
Magazine: American Journal of Human Genetics
Auteur: Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI.
Magazine: American Journal of Human Genetics
Titel: Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease.
Auteur: Bugiani M, Postma N, Polder E, Dieleman N, Scheffer PG, Sim FJ, van der Knaap MS, Boor I.
Magazine: Brain
Auteur: Bugiani M, Postma N, Polder E, Dieleman N, Scheffer PG, Sim FJ, van der Knaap MS, Boor I.
Magazine: Brain
Titel: Childhood white matter disorders: much more than just diseases of myelin
Auteur: Bugiani, Marianna, van der Knaap, Marjo S.
Magazine: Acta Neuropathologica
Auteur: Bugiani, Marianna, van der Knaap, Marjo S.
Magazine: Acta Neuropathologica
Titel: Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment
Auteur: Dooves, S., Bugiani, M., Wisse, L. E., Abbink, T. E. M., van der Knaap, M. S., Heine, V. M.
Magazine: Neuropathology and Applied Neurobiology
Auteur: Dooves, S., Bugiani, M., Wisse, L. E., Abbink, T. E. M., van der Knaap, M. S., Heine, V. M.
Magazine: Neuropathology and Applied Neurobiology
Titel: 4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System
Auteur: Vrij-van den Bos, Suzanne, Hol, Janna, La Piana, Roberta, Harting, Inga, Vanderver, Adeline, Barkhof, Frederik, Cayami, Ferdy, van Wieringen, Wessel, Pouwels, Petra, van der Knaap, Marjo, Bernard, Geneviève, Wolf, Nicole
Magazine: Neuropediatrics
Auteur: Vrij-van den Bos, Suzanne, Hol, Janna, La Piana, Roberta, Harting, Inga, Vanderver, Adeline, Barkhof, Frederik, Cayami, Ferdy, van Wieringen, Wessel, Pouwels, Petra, van der Knaap, Marjo, Bernard, Geneviève, Wolf, Nicole
Magazine: Neuropediatrics
Titel: Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects
Auteur: Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.
Magazine: Frontiers in neurology
Auteur: Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.
Magazine: Frontiers in neurology
Titel: Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
Auteur: Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS.
Magazine: Lancet Neurology
Auteur: Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS.
Magazine: Lancet Neurology
Titel: Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle.
Auteur: Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, Abbink TE, Scheper GC, Boor I, Lodder JC, Mansvelder HD, van der Knaap MS.
Magazine: Annals of Neurology
Auteur: Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, Abbink TE, Scheper GC, Boor I, Lodder JC, Mansvelder HD, van der Knaap MS.
Magazine: Annals of Neurology
Titel: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Auteur: Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K,
Magazine: Nature Genetics
Auteur: Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K,
Magazine: Nature Genetics
Titel: Novel brain white matter disorders and their genetic causes
Auteur: S.H.G. Kevelam
Link: http://www.publicatie-online.nl/publicaties/s-kevelam
Auteur: S.H.G. Kevelam
Link: http://www.publicatie-online.nl/publicaties/s-kevelam
Titel: Comparing and contrasting white matter disorders
Auteur: M. Bugiani
Auteur: M. Bugiani