Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
Könst, Andrea A.M, Lemmers, Richard J.L.F, Oudejans, Cees B.M, Fonds, Dafna, Leegwater, Peter A.J, Vermeulen, Gerre, Pronk, Jan C, van Berkel, Carola G.M, Visser, Allerdien, Mobach, Dragosh, van der Knaap, Marjo S, Schutgens, Ruud B.H, Naidu, Sakkubai, Mulders, Joyce, Kersbergen, Paula, Frants, Rune R
Published in Nature genetics (01.12.2001)
Published in Nature genetics (01.12.2001)
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The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
Scheper, Rik J, de Winter, Johan P, van der Weel, Laura, Alon, Noa, Waisfisz, Quinten, Pronk, Jan C, Mathew, Christopher G, Buchwald, Manuel, Rooimans, Martin A, Hoatlin, Maureen E, Arwert, Fré, Joenje, Hans, de Groot, Jan, van Berkel, Carola G.M, Bosnoyan-Collins, Lucine, Zhi, Yu
Published in Nature genetics (01.01.2000)
Published in Nature genetics (01.01.2000)
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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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The Fanconi anaemia group G gene FANCG is identical with XRCC9
Carreau, Madeleine, Alon, Noa, Hoehn, Holger, Arwert, Fré, Digweed, Martin, Rooimans, Martin A, Buchwald, Manuel, Demuth, Ilja, Schindler, Detlev, Bender, Olaf, van Berkel, Carola G.M, Joenje, Hans, Waisfisz, Quinten, Pronk, Jan C, de Winter, Johan P, Bosnoyan-Collins, Lucine
Published in Nature genetics (01.11.1998)
Published in Nature genetics (01.11.1998)
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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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Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
Joenje, Hans, Waisfisz, Quinten, Morgan, Neil V, Savino, Maria, de Winter, Johan P, van Berkel, Carola G.M, Hoatlin, Maureen E, Ianzano, Leonarda, Gibson, Rachel A, Arwert, Fre, Savoia, Anna, Mathew, Christopher G, Pronk, Jan C
Published in Nature genetics (01.08.1999)
Published in Nature genetics (01.08.1999)
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Regulation of protein synthesis in lymphoblasts from vanishing white matter patients
van Kollenburg, Barbara, Thomas, Adri A.M., Vermeulen, Gerre, Bertrand, Gesina A.M., van Berkel, Carola G.M., Pronk, Jan C., Proud, Christopher G., van der Knaap, Marjo S., Scheper, Gert C.
Published in Neurobiology of disease (01.03.2006)
Published in Neurobiology of disease (01.03.2006)
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Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
Kruyt, Frank A.E, Buchwald, Manuel, Lightfoot, Jeff, Joenje, Hans, Strunk, Mark H.P, Cheng, Ngan C, Pronk, Jan C, Gille, Johan J.P, Pals, Gerard, Arwert, Fré, Alon, Noa, Savoia, Anna, Parker, Linda, Carreau, Madeleine, van Berkel, Carola G.M, Rooimans, Martin A, Wijker, Mario, Lo Ten Foe, Jerome R, Bosnoyan-Collins, Lucine, Callen, David F
Published in Nature genetics (01.11.1996)
Published in Nature genetics (01.11.1996)
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Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts
Scheper, Gert C, van Berkel, Carola G M, Leisle, Lilia, de Groot, Koen E, Errami, Ab, Jentsch, Thomas J, Van der Knaap, Marjo S
Published in Genetic testing and molecular biomarkers (01.04.2010)
Published in Genetic testing and molecular biomarkers (01.04.2010)
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Classification of Fanconi Anemia Patients by Complementation Analysis: Evidence for a Fifth Genetic Subtype
Joenje, Hans, Foe, Jerome R.Lo Ten, Oostra, Anneke B., Berkel, Carola G.M. van, Rooimans, Martin A., Schroeder-Kurth, Traute, Wegner, Rolf-Dieter, Gille, Johan J.P., Buchwald, Manuel, Arwert, Fre
Published in Blood (15.09.1995)
Published in Blood (15.09.1995)
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Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
STEENWEG, Marjan E, GHEZZI, Daniele, STROM, Tim M, BERTINI, Enrico, PROKISCH, Holger, VAN DER KNAAP, Marjo S, ZEVIANI, Massimo, HAACK, Tobias, ABBINK, Truus E. M, MARTINELLI, Diego, BERKEL, Carola G. M. Van, BLEY, Annette, DIOGO, Luisa, GRILLO, Eugenio, WATER NAUDE, Johann Te
Published in Brain (London, England : 1878) (01.05.2012)
Published in Brain (London, England : 1878) (01.05.2012)
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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype―phenotype correlation
HAMILTON, Eline M, POLDER, Emiel, SIMONS, Cas, TAFT, Ryan J, ABBINK, Truus E. M, WOLF, Nicole I, VAN DER KNAAP, Marjo S, VANDERVER, Adeline, NAIDU, Sakkubai, SCHIFFMANN, Raphael, FISHER, Kate, RAGUZ, Ana Boban, BLUMKIN, Luba, VAN BERKEL, Carola G. M, WAISFISZ, Quinten
Published in Brain (London, England : 1878) (01.07.2014)
Published in Brain (London, England : 1878) (01.07.2014)
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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Scheper, Gert C, Bugiani, Marianna, Florentz, Catherine, Van Coster, Rudy, Smet, Joél, Schiffmann, Raphael, van Berkel, Carola G M, Muravina, Tatjana I, van der Klok, Thom, Smeitink, Jan A M, Pronk, Jan C, van Andel, Rob J, Uziel, Graziella, Krägeloh-Mann, Ingeborg, Sissler, Marie, Serkov, Sergey V, van der Knaap, Marjo S
Published in Nature genetics (01.04.2007)
Published in Nature genetics (01.04.2007)
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NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
Kevelam, Sietske H, Rodenburg, Richard J, Wolf, Nicole I, Ferreira, Patrick, Lunsing, Roelineke J, Nijtmans, Leo G, Mitchell, Anne, Arroyo, Hugo A, Rating, Dietz, Vanderver, Adeline, van Berkel, Carola G M, Abbink, Truus E M, Heutink, Peter, van der Knaap, Marjo S
Published in Neurology (23.04.2013)
Published in Neurology (23.04.2013)
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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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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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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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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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Subunits of the translation initiation factor eLF2B are mutant in leukoencephalopathy with vanishing white matter
LEEGWATER, Peter A. J, VERMEULEN, Gerre, LEMMERS, Richard J. L. F, FRANTS, Rune R, OUDEJANS, Cees B. M, SCHUTGENS, Ruud B. H, PRONK, Jan C, VAN DER KNAAP, Marjo S, JULIER, Cecile, KÖNST, Andrea A. M, NAIDU, Sakkubai, MULDERS, Joyce, VISSER, Allerdien, KERSBERGEN, Paula, MOBACH, Dragosh, FONDS, Dafna, VAN BERKEL, Carola G. M
Published in Nature genetics (01.12.2001)
Published in Nature genetics (01.12.2001)
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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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