المؤلفون: Stroobants, S. (Stijn), Van Acker, N.G.G. (Nathalie G.G.), Verheijen, F.W. (Frans), Goris, I. (Ilse), Daneels, R.F., Schot, R. (Rachel), Verbeek, E. (Elly), Knaapen, M.W. (Michiel), Bondt, A. (An) de, Göhlmann, H.W.H. (Hinrich W. H.), Crauwels, M.L.A. (Marion L.A.), Mancini, G.M.S. (Grazia), Andries, L.J. (Luc J.), Moechars, D. (Dieder), D'Hooge, R. (Rudi)

المصدر: Experimental Neurology vol. 291, pp. 106-119

مصطلحات موضوعية: Behavior, Development, Mouse model, Myelination, Oligodendrocyte lineage, Sialic acid storage disease, Sialin

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/98085; urn:hdl:1765/98085

الاتاحة: http://repub.eur.nl/pub/98085
https://doi.org/10.1016/j.expneurol.2017.02.009

المؤلفون: Stroobants, S, Van Acker, NGG, Verheijen, Frans, Goris, I, Daneels, GFT, Schot, Rachel, Verbeek, E (Elly), Knaapen, MWM, de Bondt, A, Gohlmann, HW, Crauwels, MLA, Verheijen - Mancini, Grazia, Andries, LJ, Moechars, DWE, D'Hooge, R

المصدر: Stroobants , S , Van Acker , NGG , Verheijen , F , Goris , I , Daneels , GFT , Schot , R , Verbeek , E , Knaapen , MWM , de Bondt , A , Gohlmann , HW , Crauwels , MLA , Verheijen - Mancini , G , Andries , LJ , Moechars , DWE & D'Hooge , R 2017 , ' Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice ' , Experimental Neurology , vol. 291 , pp. 106-119 . https://doi.org/10.1016/j.expneuro1.2017.02.009

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/68ae9c0c-283b-4799-9c0f-b13ccc594094
https://doi.org/10.1016/j.expneuro1.2017.02.009
https://pure.eur.nl/ws/files/47810467/REPUB_98085_OA.pdf
http://hdl.handle.net/1765/98085

المؤلفون: Kia, S.K., Verbeek, E. (Elly), Engelen, M.P. (Erik), Schot, R. (Rachel), Poot, R.A. (Raymond), Coo, I.F.M. (René) de, Leguin, M. (Maarten), Poulton, C.J. (Cathryn), Pourfarzad, F. (Farzin), Grosveld, F.G. (Frank), Brehm, A. (António), Wit, M.C.Y. (Marie Claire) de, Oegema, R. (Renske), Dobyns, W.B. (William), Verheijen, F.W. (Frans), Mancini, G.M.S. (Grazia)

المصدر: American Journal of Human Genetics vol. 91 no. 3, pp. 533-540

Relation: http://repub.eur.nl/pub/37716; urn:hdl:1765/37716

الاتاحة: http://repub.eur.nl/pub/37716
https://doi.org/10.1016/j.ajhg.2012.07.008

المؤلفون: Verbeek, E. (Elly), Meuwissen, M.E.C. (Marije), Verheijen, F.W. (Frans), Govaert, P. (Paul), Licht, D.J. (Daniel), Kuo, D.S. (Debbie), Poulton, C.J. (Cathryn), Schot, R. (Rachel), Lequin, M.H. (Maarten), Dudink, J. (Jeroen), Halley, D.J.J. (Dicky), Coo, I.F.M. (René) de, Hollander, J.C. (Jan) den, Oegema, R. (Renske), Gould, D.B. (Douglas ), Mancini, G.M.S. (Grazia)

المصدر: European Journal of Human Genetics vol. 20 no. 8, pp. 844-851

مصطلحات موضوعية: COL4A2, collagen-IV, porencephaly, small-vessel disease

Relation: http://repub.eur.nl/pub/64931; urn:hdl:1765/64931

الاتاحة: http://repub.eur.nl/pub/64931
https://doi.org/10.1038/ejhg.2012.20

المؤلفون: de Vries, LS (Linda), Koopman, C, Groenendaal, F, Van Schooneveld, M, Verheijen, Frans, Verbeek, E (Elly), Witkamp, TD, van der Worp, B, Verheijen - Mancini, Grazia

المصدر: de Vries , LS , Koopman , C , Groenendaal , F , Van Schooneveld , M , Verheijen , F , Verbeek , E , Witkamp , TD , van der Worp , B & Verheijen - Mancini , G 2009 , ' COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage ' , Annals of Neurology , vol. 65 , no. 1 , pp. 12-18 . https://doi.org/10.1002/ana.21525

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

Relation: https://pure.eur.nl/en/publications/c95aaf11-2d0f-4fb2-80a4-289e38c7ba09

الاتاحة: https://pure.eur.nl/en/publications/c95aaf11-2d0f-4fb2-80a4-289e38c7ba09
https://doi.org/10.1002/ana.21525
http://hdl.handle.net/1765/25006

المؤلفون: de Wit, Marie Claire, Coo, IFM, Verbeek, E (Elly), Schot, Rachel, Schoonderwoerd, Kees, Duran, M (Mercedes), Klerk, Hans, Huijmans, Jan, Lequin, MH, Verheijen, Frans, Verheijen - Mancini, Grazia

المصدر: de Wit , M C , Coo , IFM , Verbeek , E , Schot , R , Schoonderwoerd , K , Duran , M , Klerk , H , Huijmans , J , Lequin , MH , Verheijen , F & Verheijen - Mancini , G 2006 , ' Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency ' , Molecular Genetics and Metabolism , vol. 87 , no. 2 , pp. 102-106 . https://doi.org/10.1016/j.ymgme.2005.09.009

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES033001, name=EMC NIHES-03-30-01

الاتاحة: https://pure.eur.nl/en/publications/806a5d46-9981-4a3d-bac1-a60a1c7984a4
https://doi.org/10.1016/j.ymgme.2005.09.009
http://hdl.handle.net/1765/73002

المؤلفون: Yarovaya, N, Schot, R (Rachel), Fodero, L, McMahon, M, Mahoney, A, Williams, R, Verbeek, E (Elly), de Bondt, A, Hampson, M, van der Spek, Peter, Stubbs, A, Masters, CL, Verheijen, Frans, Verheijen - Mancini, Grazia, Venter, DJ

المصدر: Yarovaya , N , Schot , R , Fodero , L , McMahon , M , Mahoney , A , Williams , R , Verbeek , E , de Bondt , A , Hampson , M , van der Spek , P , Stubbs , A , Masters , CL , Verheijen , F , Verheijen - Mancini , G & Venter , DJ 2005 , ' Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated ' , Neurobiology of Disease , vol. 19 , no. ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC020201, name=EMC MGC-02-02-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

الاتاحة: https://pure.eur.nl/en/publications/9e177154-7ae0-46e4-a1e0-46c71c254ab2
https://doi.org/10.1016/j.nbd.2004.12.020
http://hdl.handle.net/1765/73079

المؤلفون: Melis, D (D.), Havelaar, AC (Adrie), Verbeek, E (Elly), Smit, GPA, Benedetti, A, Verheijen - Mancini, Grazia, Verheijen, Frans

المصدر: Melis , D , Havelaar , AC , Verbeek , E , Smit , GPA , Benedetti , A , Verheijen - Mancini , G & Verheijen , F 2004 , ' NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic ' , Journal of Inherited Metabolic Disease , vol. 27 , no. 6 , pp. 725-733 . https://doi.org/10.1023/B:BOLI.0000045755.89308.2f

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

Relation: https://pure.eur.nl/en/publications/d31dd646-e6bc-48d5-bbff-6704b842ab51

الاتاحة: https://pure.eur.nl/en/publications/d31dd646-e6bc-48d5-bbff-6704b842ab51
https://doi.org/10.1023/B:BOLI.0000045755.89308.2f
http://hdl.handle.net/1765/54717

المؤلفون: Biancheri, R, Verbeek, E (Elly), de Rossi, A, Gaggero, R, Roccatagliate, L, Gatti, R, Diggelen, Otto, Verheijen, Frans, Verheijen - Mancini, Grazia

المصدر: Biancheri , R , Verbeek , E , de Rossi , A , Gaggero , R , Roccatagliate , L , Gatti , R , Diggelen , O , Verheijen , F & Verheijen - Mancini , G 2002 , ' An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease ' , Clinical Genetics , vol. 61 , pp. 443-447 . https://doi.org/10.1034/j.1399-0004.2002.610608.x

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

الاتاحة: https://pure.eur.nl/en/publications/2d12e851-c012-4f56-9141-e448bae1c502
https://doi.org/10.1034/j.1399-0004.2002.610608.x
http://hdl.handle.net/1765/68487

المؤلفون: Verheijen, Frans, Verbeek, E (Elly), Aula, N, Beerens, Cecile, Havelaar, AC (Adrie), Joosse, M, Peltonen, L, Aula, P, Galjaard, H, van der Spek, Peter, Verheijen - Mancini, Grazia

المصدر: Verheijen , F , Verbeek , E , Aula , N , Beerens , C , Havelaar , AC , Joosse , M , Peltonen , L , Aula , P , Galjaard , H , van der Spek , P & Verheijen - Mancini , G 1999 , ' A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases ' , Nature Genetics , vol. 23 , pp. 462-465 . https://doi.org/10.1038/70585

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

الاتاحة: https://pure.eur.nl/en/publications/d7cb53a2-ae96-4581-9802-b7a0c1444295
https://doi.org/10.1038/70585
http://hdl.handle.net/1765/58707