Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
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Published in Nature genetics (01.04.2007)
Published in Nature genetics (01.04.2007)
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Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
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Published in Brain (London, England : 1878) (01.05.2012)
Published in Brain (London, England : 1878) (01.05.2012)
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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
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Published in Neurology (23.04.2013)
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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype―phenotype correlation
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Published in Brain (London, England : 1878) (01.07.2014)
Published in Brain (London, England : 1878) (01.07.2014)
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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy
VAN BERGE, Laura, HAMILTON, Eline M, DE JONG, Brigit A, MALAK AL GHAMDI, VAN WIERINGEN, Wessel N, TANNOUS, Bakhos A, HULLEMAN, Esther, WÜRDINGER, Thomas, VAN BERKEL, Carola G. M, POLDER, Emiel, ABBINK, Truus E. M, STRUYS, Eduard A, LINNANKIVI, Tarja, SCHEPER, Gert C, VAN DER KNAAP, Marjo S, UZIEL, Graziella, STEENWEG, Marjan E, ISOHANNI, Pirjo, WOLF, Nicole I, KRÄGELOH-MANN, Ingeborg, BRAUTASET, Nils J, ANDREWS, P. Ian
Published in Brain (London, England : 1878) (01.04.2014)
Published in Brain (London, England : 1878) (01.04.2014)
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Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro
Wisse, Lisanne E., ter Braak, Timo J., van de Beek, Malu-Clair, van Berkel, Carola G. M., Wortel, Joke, Heine, Vivi M., Proud, Chris G., van der Knaap, Marjo S., Abbink, Truus E. M.
Published in Scientific reports (28.02.2018)
Published in Scientific reports (28.02.2018)
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Genotype-phenotype correlation in vanishing white matter disease
van der Lei, H D W, van Berkel, C G M, van Wieringen, W N, Brenner, C, Feigenbaum, A, Mercimek-Mahmutoglu, S, Philippart, M, Tatli, B, Wassmer, E, Scheper, G C, van der Knaap, M S
Published in Neurology (26.10.2010)
Published in Neurology (26.10.2010)
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Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes
Liu, Rui, van der Lei, Hannemieke D.W., Wang, Xuemin, Wortham, Noel C., Tang, Hua, van Berkel, Carola G.M., Mufunde, Tsitsi Arikana, Huang, Weida, van der Knaap, Marjo S., Scheper, Gert C., Proud, Christopher G.
Published in Human mutation (01.09.2011)
Published in Human mutation (01.09.2011)
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Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects
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
Published in Frontiers in neurology (16.11.2016)
Published in Frontiers in neurology (16.11.2016)
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Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions
Wisse, Lisanne E, Penning, Renske, Zaal, Esther A, van Berkel, Carola G M, Ter Braak, Timo J, Polder, Emiel, Kenney, Justin W, Proud, Christopher G, Berkers, Celia R, Altelaar, Maarten A F, Speijer, Dave, van der Knaap, Marjo S, Abbink, Truus E M
Published in Frontiers in cellular neuroscience (20.12.2017)
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Early-onset LBSL: how severe does it get?
Steenweg, M E, van Berge, L, van Berkel, C G M, de Coo, I F M, Temple, I K, Brockmann, K, Mendonça, C I P, Vojta, S, Kolk, A, Peck, D, Carr, L, Uziel, G, Feigenbaum, A, Blaser, S, Scheper, G C, van der Knaap, M S
Published in Neuropediatrics (01.12.2012)
Published in Neuropediatrics (01.12.2012)
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Altered PLP1 splicing causes hypomyelination of early myelinating structures
Kevelam, Sietske H., Taube, Jennifer R., Spaendonk, Rosalina M. L., Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A., Bernard, Geneviève, Catsman‐Berrevoets, Coriene E., Karnebeek, Clara D. M., Østergaard, John R., Friederich, Richard L., Fawzi Elsaid, Mahmoud, Schieving, Jolanda H., Tarailo‐Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E., Berkel, Carola G. M., Waisfisz, Quinten, Abbink, Truus E. M., Knaap, Marjo S., Hobson, Grace M., Wolf, Nicole I.
Published in Annals of clinical and translational neurology (01.06.2015)
Published in Annals of clinical and translational neurology (01.06.2015)
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LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy
Kevelam, Sietske H., van Engelen, Baziel G.M., van Berkel, Carola G.M., Küsters, Benno, van der Knaap, Marjo S.
Published in Muscle & nerve (01.04.2014)
Published in Muscle & nerve (01.04.2014)
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LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
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, Anna, Moroni, Isabella, Ferrero, Ileana, Tartaglia, Marco, Goffrini, Paola, Ghezzi, Daniele, van der Knaap, Marjo S, Bertini, Enrico
Published in Brain (London, England : 1878) (01.03.2016)
Published in Brain (London, England : 1878) (01.03.2016)
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eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
van der Knaap, Marjo S., van Berkel, Carola G.M., Herms, Jochen, van Coster, Rudy, Baethmann, Martina, Naidu, Sakkubai, Boltshauser, Eugen, Willemsen, Michèl A.A.P., Plecko, Barbara, Hoffmann, Georg F., Proud, Christopher G., Scheper, Gert C., Pronk, Jan C.
Published in American journal of human genetics (01.11.2003)
Published in American journal of human genetics (01.11.2003)
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Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA
van Berge, Laura, Dooves, Stephanie, van Berkel, Carola G M, Polder, Emiel, van der Knaap, Marjo S, Scheper, Gert C
Published in Biochemical journal (01.02.2012)
Published in Biochemical journal (01.02.2012)
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Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene
de Winter, Johan P., Léveillé, France, van Berkel, Carola G.M., Rooimans, Martin A., van der Weel, Laura, Steltenpool, Jurgen, Demuth, Ilja, Morgan, Neil V., Alon, Noa, Bosnoyan-Collins, Lucine, Lightfoot, Jeff, Leegwater, Peter A., Waisfisz, Quinten, Komatsu, Kenshi, Arwert, Fré, Pronk, Jan C., Mathew, Christopher G., Digweed, Martin, Buchwald, Manuel, Joenje, Hans
Published in American journal of human genetics (01.11.2000)
Published in American journal of human genetics (01.11.2000)
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