المؤلفون: Godfrey, C, Desviat, LR, Smedsrod, B, Pietri-Rouxel, F, Denti, MA, Disterer, P, Lorain, S, Nogales-Gadea, G, Sardone, V, Anwar, R, El Andaloussi, S, Lehto, T, Khoo, B, Brolin, C, van Roon-Mom, WMC, Goyenvalle, A, Aartsma-Rus, A, Arechavala-Gomeza, V

المصدر: EMBO molecular medicine. 9(5):545-557

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:135708327Test

المؤلفون: Milanese, Chiara, Payan Gomez, Cesar, Galvani, M, Gonzalez, NM, Tresini, Maria, Naït Abdellah, Soraya, van Roon-Mom, WMC, Figini, S, Marinus, J, van Hilten, JJ, Mastroberardino, Pier

المصدر: Milanese , C , Payan Gomez , C , Galvani , M , Gonzalez , NM , Tresini , M , Naït Abdellah , S , van Roon-Mom , WMC , Figini , S , Marinus , J , van Hilten , JJ & Mastroberardino , P 2019 , ' Peripheral mitochondrial function correlates with clinical severity in idiopathic Parkinson's disease ' , Movement Disorders , vol. 34 , no. 8 , pp. 1192-1202 . https://doi.org/10.1002/mds.27723Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/mds.27723Test
https://pure.eur.nl/en/publications/6be20025-a2f0-4715-a89e-28c80a172887Test
https://pure.eur.nl/ws/files/48243935/Repub_119182_O-A.pdfTest
http://hdl.handle.net/1765/119182Test

المؤلفون: Graaf, LM, Gardiner, SL, Tok, M, Brands, Tom, Boogaard, MW, Pepers, BA, Eussen, HJFMM (Bert), de Klein, Annelies, Aziz, NA, Freund, C, Buijsen, RAM, van Roon-Mom, WMC

المصدر: Graaf , LM , Gardiner , SL , Tok , M , Brands , T , Boogaard , MW , Pepers , BA , Eussen , HJFMM , de Klein , A , Aziz , NA , Freund , C , Buijsen , RAM & van Roon-Mom , WMC 2019 , ' Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease ' , Stem Cell Research , vol. 39 , Unsp 101498 . https://doi.org/10.1016/j.scr.2019.101498Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.scr.2019.101498Test
https://pure.eur.nl/en/publications/13470b91-f8d9-49b3-a5d5-cf606ad05569Test
https://pure.eur.nl/ws/files/48239928/REPUB_118427-OA.pdfTest
http://hdl.handle.net/1765/118427Test

المؤلفون: van der Wal, Estella, Hamer, B, van der Vliet, PJ, Tok, M, Brands, Tom, Eussen, HJFMM (Bert), Lemmers, R, Freund, C, de Klein, Annelies, Buijsen, RAM, van Roon-Mom, WMC, Tawil, R, van der Maarel, SM, de Greef, JC

المصدر: van der Wal , E , Hamer , B , van der Vliet , PJ , Tok , M , Brands , T , Eussen , HJFMM , Lemmers , R , Freund , C , de Klein , A , Buijsen , RAM , van Roon-Mom , WMC , Tawil , R , van der Maarel , SM & de Greef , JC 2019 , ' Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients ' , Stem Cell Research , vol. 40 , Unsp 101560 . https://doi.org/10.1016/j.scr.2019.101560Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.scr.2019.101560Test
https://pure.eur.nl/en/publications/a3cc818f-f8d1-4921-934a-1146df91921eTest
https://pure.eur.nl/ws/files/48240025/Repub_119548_O-A.pdfTest
http://hdl.handle.net/1765/119548Test

المؤلفون: Daoutsali, E, Buijsen, RAM, Pas, S, Jong, AC, Mikkers, H, Brands, Tom, Eussen, HJFMM (Bert), de Klein, Annelies, Graaf, LM, Pepers, BA, Freund, C, Terwindt, GM, Orlova, VV, van Roon-Mom, WMC

المصدر: Daoutsali , E , Buijsen , RAM , Pas , S , Jong , AC , Mikkers , H , Brands , T , Eussen , HJFMM , de Klein , A , Graaf , LM , Pepers , BA , Freund , C , Terwindt , GM , Orlova , VV & van Roon-Mom , WMC 2019 , ' Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient ' , Stem Cell Research , vol. 34 , Unsp 101359 . https://doi.org/10.1016/j.scr.2018.101359Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.scr.2018.101359Test
https://pure.eur.nl/en/publications/8b11a7b5-82ef-4982-8053-b4d3c9d933deTest
https://pure.eur.nl/ws/files/48171199/REPUB_113801-OA.pdfTest
http://hdl.handle.net/1765/113801Test

المؤلفون: Gardiner, SL, Milanese, Chiara, Boogaard, MW, Buijsen, RAM, Hogenboom, M, Roos, RAC, Mastroberardino, Pier, van Roon-Mom, WMC, Aziz, NA

المصدر: Gardiner , SL , Milanese , C , Boogaard , MW , Buijsen , RAM , Hogenboom , M , Roos , RAC , Mastroberardino , P , van Roon-Mom , WMC & Aziz , NA 2018 , ' Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset ' , Neurology. Genetics , vol. 4 , no. 6 , UNSP e275 . https://doi.org/10.1212/nxg.0000000000000275Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1212/nxg.0000000000000275Test
https://pure.eur.nl/en/publications/d607e3aa-61e1-4264-a601-51e0ae5825f2Test
https://pure.eur.nl/ws/files/48001482/REPUB_111380-OA.pdfTest
http://hdl.handle.net/1765/111380Test

المؤلفون: Buijsen, RAM, Gardiner, SL, Bouma, MJ, Graaf, LM, Boogaard, MW, Pepers, BA, Eussen, HJFMM (Bert), de Klein, Annelies, Freund, C, van Roon-Mom, WMC

المصدر: Buijsen , RAM , Gardiner , SL , Bouma , MJ , Graaf , LM , Boogaard , MW , Pepers , BA , Eussen , HJFMM , de Klein , A , Freund , C & van Roon-Mom , WMC 2018 , ' Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B ' , Stem Cell Research , vol. 29 , pp. 125-128 . https://doi.org/10.1016/j.scr.2018.03.018Test

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

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/30575caf-33e4-4cbb-9dd1-d1c640f37362Test

الإتاحة: https://doi.org/10.1016/j.scr.2018.03.018Test
https://pure.eur.nl/en/publications/30575caf-33e4-4cbb-9dd1-d1c640f37362Test
https://pure.eur.nl/ws/files/47921338/REPUB_105858-OA.pdfTest
http://hdl.handle.net/1765/105858Test

المؤلفون: Gardiner, SL, van Belzen, MJ, Boogaard, MW, van Roon-Mom, WMC, Rozing, MP, van Hemert, AM, Smit, JH, Beekman, ATF, van Grootheest, G, Schoevers, RA, Voshaar, RCO, Roos, RAC, Comijs, HC, Penninx, BWJH, van der Mast, RC, Aziz, NA

المصدر: Translational Psychiatry , 7 , Article 1277. (2017)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Psychiatry, PITUITARY-ADRENAL AXIS, TRINUCLEOTIDE REPEAT, OLDER PERSONS, MOUSE MODEL, CAG LENGTH, DISEASE, SYMPTOMS, DISORDER, BEHAVIOR, POLYGLUTAMINE

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10041694/1/Gardiner_Huntingtin%20gene.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10041694Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10041694/1/Gardiner_Huntingtin%20gene.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10041694Test/

المؤلفون: Stuitje, G, van Belzen, MJ, Gardiner, SL, van Roon-Mom, WMC, Boogaard, MW, Tabrizi, SJ, Roos, RAC, Aziz, NA

المصدر: Brain , 140 (7) , Article e42. (2017)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, SPINOCEREBELLAR ATAXIA TYPE-3, HOMOGENEOUS COHORTS AID, MODIFIERS

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1555571/1/Tabrizi_2017.03.31_AgeofonsetinHDinfluecedbyotherPDAGs_FINAL.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1555571/6/Tabrizi_Supplementary%20Table%20and%20Figures.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1555571Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1555571/1/Tabrizi_2017.03.31_AgeofonsetinHDinfluecedbyotherPDAGs_FINAL.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1555571/6/Tabrizi_Supplementary%20Table%20and%20Figures.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1555571Test/

المؤلفون: Hensman Moss, DJ, Flower, MD, Lo, KK, Miller, JRC, van Ommen, G-JB, 't Hoen, PAC, Stone, TC, Guinee, A, Langbehn, DR, Jones, L, Plagnol, V, van Roon-Mom, WMC, Holmans, P, Tabrizi, SJ

المصدر: Sci Rep , 7 , Article 44849. (2017)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1546278/7/Tabrizi_srep44849.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1546278Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1546278/7/Tabrizi_srep44849.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1546278Test/