المؤلفون: 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.

المصدر: Wisse , L E , Ter Braak , T J , Van De Beek , M C , Van Berkel , C G M , Wortel , J , Heine , V M , Proud , C G , Van Der Knaap , M S & Abbink , T E M 2018 , ' Adult mouse eIF2Bϵ Arg191His astrocytes display a normal integrated stress response in vitro ' , Scientific Reports , vol. 8 , no. 1 , 3773 , pp. 1-9 . https://doi.org/10.1038/s41598-018-21885-x

Relation: https://research.vu.nl/en/publications/5842123c-692e-469a-a268-dfddd3a40aca

الاتاحة: https://research.vu.nl/en/publications/5842123c-692e-469a-a268-dfddd3a40aca
https://doi.org/10.1038/s41598-018-21885-x
https://hdl.handle.net/1871.1/5842123c-692e-469a-a268-dfddd3a40aca
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المؤلفون: 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.

المصدر: Wisse , L E , Penning , R , Zaal , E A , van Berkel , C G M , ter Braak , T J , Polder , E , Kenney , J W , Proud , C G , Berkers , C R , Altelaar , M A F , Speijer , D , van der Knaap , M S & Abbink , T E M 2017 , ' Proteomic and metabolomic analyses of vanishing white matter mouse astrocytes reveal deregulation of ER functions ' , Frontiers in Cellular Neuroscience , vol. 11 , 411 . https://doi.org/10.3389/fncel.2017.00411

الاتاحة: https://research.vumc.nl/en/publications/56f375a6-dc15-4903-9a3e-d2c62b9b69b0
https://doi.org/10.3389/fncel.2017.00411
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المؤلفون: Steenweg, Marjan E., Ghezzi, Daniele, Haack, Tobias, Abbink, Truus E.M., Martinelli, Diego, van Berkel, Carola G.M., Bley, Annette, Diogo, Luisa, Grillo, Eugenio, Te Water Naudé, Johann, Strom, Tim M., Bertini, Enrico, Prokisch, Holger, van der Knaap, Marjo S., Zeviani, Massimo

مصطلحات موضوعية: Original Article

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/aws070v1; http://dx.doi.org/10.1093/brain/aws070

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/aws070v1
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المؤلفون: 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.

المصدر: Van Der Knaap , M S , Van Berkel , C G M , Herms , J , Van Coster , R , Baethmann , M , Naidu , S , Boltshauser , E , Willemsen , M A A P , Plecko , B , Hoffmann , G F , Proud , C G , Scheper , G C & Pronk , J C 2003 , ' elF2B-Related Disorders : Antenatal Onset and Involvement of Multiple Organs ' , American journal of human genetics , vol. 73 , no. 5 , pp. 1199-1207 . https://doi.org/10.1086/379524

الاتاحة: https://research.vumc.nl/en/publications/638ac002-fd37-457d-a1fd-08b75821b0be
https://doi.org/10.1086/379524
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المؤلفون: 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

المصدر: De Winter , J P , Léveillé , F , Van Berkel , C G M , Rooimans , M A , Van Der Weel , L , Steltenpool , J , Demuth , I , Morgan , N V , Alon , N , Bosnoyan-Collins , L , Lightfoot , J , Leegwater , P A , Waisfisz , Q , Komatsu , K , Arwert , F , Pronk , J C , Mathew , C G , Digweed , M , Buchwald , M & Joenje , H 2000 , ' Isolation of a cDNA representing ....

الاتاحة: https://research.vumc.nl/en/publications/1c1bfca9-1c16-45b7-a03e-67824378f838
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المؤلفون: Joenje, Hans, Levitus, Marieke, Waisfisz, Quinten, D'Andrea, Alan, Garcia-Higuera, Irene, Pearson, Tommy, van Berkel, Carola G.M., Rooimans, Martin A., Morgan, Neil, Mathew, Christopher G., Arwert, Fré

المصدر: The American Journal of Human Genetics ; volume 67, issue 3, page 759-762 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/303067
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المؤلفون: Joenje, Hans, Oostra, Anneke B., Wijker, Mario, di Summa, Franca M., van Berkel, Carola G.M., Rooimans, Martin A., Ebell, Wolfram, van Weel, Margreet, Pronk, Jan C., Buchwald, Manuel, Arwert, Fré

المصدر: The American Journal of Human Genetics ; volume 61, issue 4, page 940-944 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1086/514881
https://api.elsevier.com/content/article/PII:S0002929707642049?httpAccept=text/xml
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المؤلفون: Joenje, Hans, Lo Ten Foe, Jerome R., Oostra, Anneke B., Van Berkel, Carola G.M., Rooimans, Martin A., Schroeder-Kurth, Traute, Wegner, Rolf Dieter, Gille, Johan J.P., Buchwald, Manuel, Arwert, Fré

المصدر: Joenje , H , Lo Ten Foe , J R , Oostra , A B , Van Berkel , C G M , Rooimans , M A , Schroeder-Kurth , T , Wegner , R D , Gille , J J P , Buchwald , M & Arwert , F 1995 , ' Classification of Fanconi anemia patients by complementation analysis : Evidence for a fifth genetic subtype ' , Blood , vol. 86 , no. 6 , pp. 2156-2160 . https://doi.org/10.1182/blood.v86.6.2156.bloodjournal8662156

الاتاحة: https://research.vumc.nl/en/publications/9f728ccc-aff2-4c8b-9ddf-d4b51889c332
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المؤلفون: Kevelam, Sietske H., van Engelen, Baziel G.M., van Berkel, Carola G.M., Küsters, Benno, van der Knaap, Marjo S.

المصدر: Muscle & Nerve ; volume 49, issue 4, page 616-617 ; ISSN 0148-639X

الاتاحة: http://dx.doi.org/10.1002/mus.24147
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المؤلفون: Klok, Melanie D., Dooves, Stephanie, van Berkel, Carola G.M., Baron, Wia, Thomson, Christine E., Heine, Vivi M., Abbink, Truus E.M., van der Knaap, Marjo S.

المصدر: Tijdschrift voor Kindergeneeskunde ; volume 81, issue S1, page 66-66 ; ISSN 0376-7442 1875-6840

الاتاحة: http://dx.doi.org/10.1007/s12456-013-0065-3
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المؤلفون: 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.

المصدر: Neurology ; volume 80, issue 17, page 1577-1583 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0b013e31828f1914
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المؤلفون: 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.

Relation: 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. and Proud, Christopher G. (2011) Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. Human Mutation, 32 (9), 1036-1045. (doi:10.1002/humu.21535 ). (PMID:21560189 )

الاتاحة: https://eprints.soton.ac.uk/350235/

المؤلفون: Scheper, Gert C., van Berkel, Carola G.M., Leisle, Lilia, de Groot, Koen E., Errami, Ab, Jentsch, Thomas J., Van der Knaap, Marjo S.

المصدر: Genetic Testing and Molecular Biomarkers ; volume 14, issue 2, page 255-257 ; ISSN 1945-0265 1945-0257

الاتاحة: http://dx.doi.org/10.1089/gtmb.2009.0148
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المؤلفون: Scheper, Gert C., Van Der Klok, Thom, Van Andel, Rob J., Van Berkel, Carola G.M., Sissler, Marie, Smet, Joél, Muravina, Tatjana I., Serkov, Sergey V., Uziel, Graziella, Bugiani, Marianna, Schiffmann, Raphael, Krägeloh-Mann, Ingeborg, Smeitink, Jan A.M., Florentz, Catherine, Van Coster, Rudy, Pronk, Jan C., Van Der Knaap, Marjo S.

المصدر: Scheper , G C , Van Der Klok , T , Van Andel , R J , Van Berkel , C G M , Sissler , M , Smet , J , Muravina , T I , Serkov , S V , Uziel , G , Bugiani , M , Schiffmann , R , Krägeloh-Mann , I , Smeitink , J A M , Florentz , C , Van Coster , R , Pronk , J C & Van Der Knaap , M S 2007 , ' Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord ....

الاتاحة: https://research.vumc.nl/en/publications/0e20af63-c9f5-45e0-9d91-8b371d46653e
https://doi.org/10.1038/ng2013
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المؤلفون: 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.

المصدر: Van Kollenburg , B , Thomas , A A M , Vermeulen , G , Bertrand , G A M , Van Berkel , C G M , Pronk , J C , Proud , C G , Van Der Knaap , M S & Scheper , G C 2006 , ' Regulation of protein synthesis in lymphoblasts from vanishing white matter patients ' , Neurobiology of Disease , vol. 21 , no. 3 , pp. 496-504 . https://doi.org/10.1016/j.nbd.2005.08.009

Relation: https://research.vumc.nl/en/publications/5f7fd18f-054b-4472-8368-1b7920e62898

الاتاحة: https://research.vumc.nl/en/publications/5f7fd18f-054b-4472-8368-1b7920e62898
https://doi.org/10.1016/j.nbd.2005.08.009
http://www.scopus.com/inward/record.url?scp=33244482231&partnerID=8YFLogxK

المؤلفون: Leegwater, Peter A.J., Vermeulen, Gerre, Könst, Andrea A.M., Naidu, Sakkubai, Mulders, Joyce, Visser, Allerdien, Kersbergen, Paula, Mobach, Dragosh, Fonds, Dafna, Van Berkel, Carola G.M., Lemmers, Richard J.L.F., Frants, Rune R., Oudejans, Cees B.M., Schutgens, Ruud B.H., Pronk, Jan C., Van der Knaap, Marjo S.

المصدر: Leegwater , P A J , Vermeulen , G , Könst , A A M , Naidu , S , Mulders , J , Visser , A , Kersbergen , P , Mobach , D , Fonds , D , Van Berkel , C G M , Lemmers , R J L F , Frants , R R , Oudejans , C B M , Schutgens , R B H , Pronk , J C & Van der Knaap , M S 2001 , ' Subunits of the translation initiation factor elF2B are mutant in leukoencephalopathy with vanishing white ....

الاتاحة: https://research.vumc.nl/en/publications/a6211b2f-9175-4d2e-99c0-00954bcfd226
https://doi.org/10.1038/ng764
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المؤلفون: de Winter, Johan P., Rooimans, Martin A., van der Weel, Laura, van Berkel, Carola G.M., Alon, Noa, Bosnoyan-Collins, Lucine, de Groot, Jan, Zhi, Yu, Waisfisz, Quinten, Pronk, Jan C., Arwert, Fré, Mathew, Christopher G., Scheper, Rik J., Hoatlin, Maureen E., Buchwald, Manuel, Joenje, Hans

المصدر: Nature Genetics ; volume 24, issue 1, page 15-16 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/71626
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المؤلفون: 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., Joenje, Hans

المصدر: Waisfisz , Q , Morgan , N V , Savino , M , De Winter , J P , Van Berkel , C G M , Hoatlin , M E , Ianzano , L , Gibson , R A , Arwert , F , Savoia , A , Mathew , C G , Pronk , J C & Joenje , H 1999 , ' Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism ' , Nature Genetics , vol. 22 , no. 4 , pp. 379-383 . https://doi.org/10.1038/11956

الاتاحة: https://research.vumc.nl/en/publications/8bf247ad-5acc-4b70-810c-74aac972052e
https://doi.org/10.1038/11956
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المؤلفون: de Winter, Johan P., Waisfisz, Quinten, Rooimans, Martin A., van Berkel, Carola G.M., Bosnoyan-Collins, Lucine, Alon, Noa, Carreau, Madeleine, Bender, Olaf, Demuth, Ilja, Schindler, Detlev, Pronk, Jan C., Arwert, Fré, Hoehn, Holger, Digweed, Martin, Buchwald, Manuel, Joenje, Hans

المصدر: Nature Genetics ; volume 20, issue 3, page 281-283 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/3093
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المؤلفون: Lo Ten Foe, Jerome R., Rooimans, Martin A., Bosnoyan-Collins, Lucine, Alon, Noa, Wijker, Mario, Parker, Linda, Lightfoot, Jeff, Carreau, Madeleine, Callen, David F., Savoia, Anna, Cheng, Ngan C., van Berkel, Carola G.M., Strunk, Mark H.P., Gille, Johan J.P., Pals, Gerard, Kruyt, Frank A.E., Pronk, Jan C., Arwert, Fré, Buchwald, Manuel, Joenje, Hans

المصدر: Nature Genetics ; volume 14, issue 3, page 320-323 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng1196-320
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