Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ingeborg Nieuwenhuizen"'
Autor:
Josien Levenga, Shigemi Hayashi, Femke M.S. de Vrij, Sebastiaan K. Koekkoek, Herma C. van der Linde, Ingeborg Nieuwenhuizen, Cheng Song, Ronald A.M. Buijsen, Andreea S. Pop, Baltazar GomezMancilla, David L. Nelson, Rob Willemsen, Fabrizio Gasparini, Ben A. Oostra
Publikováno v:
Neurobiology of Disease, Vol 42, Iss 3, Pp 311-317 (2011)
Fragile X syndrome, the most common form of inherited intellectual disability, is caused by a lack of FMRP, which is the product of the Fmr1 gene. FMRP is an RNA-binding protein and a component of RNA-granules found in the dendrites of neurons. At th
Externí odkaz:
https://doaj.org/article/2805dc9459cd4a9eb1549444b3d8d9c4
Autor:
Celine de Esch, Andreea S. Pop, Renate K. Hukema, Israa A. Jaafar, Ronald A.M. Buijsen, Shimriet Zeidler, Helen de Boer, Rob Willemsen, Ingeborg Nieuwenhuizen-Bakker
Publikováno v:
Brain and Behavior, 8(6):e00991. John Wiley & Sons Inc.
textabstractIntroduction: Fragile X syndrome (FXS) is a common monogenetic cause of intellectual disability, autism spectrum features, and a broad range of other psychiatric and medical problems. FXS is caused by the lack of the fragile X mental reta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c9c6e86c211b79c39c6927d271e7a30
https://pure.eur.nl/en/publications/59fe90bc-de2c-4d78-a62f-883aae668c3b
https://pure.eur.nl/en/publications/59fe90bc-de2c-4d78-a62f-883aae668c3b
Autor:
Ronald A.M. Buijsen, C.E.F. de Esch, W.E. van den Berg, Rob Willemsen, Fabrizio Gasparini, I.A. Jaafar, Steven A. Kushner, Ingeborg Nieuwenhuizen-Bakker
Publikováno v:
Neurobiology of Disease, Vol 75, Iss, Pp 31-39 (2015)
Neurobiology of Disease, 75, 31-39. Academic Press
Neurobiology of Disease, 75, 31-39. Academic Press
Fragile X syndrome is the most common monogenetic form of intellectual disability and autism. Although the Fmr1 knockout mouse model recapitulates many aspects of the human FXS condition, the establishment of robust social behavioural phenotypes suit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33e4c14e0db751e766e07004315a22fa
http://www.sciencedirect.com/science/article/pii/S0969996114003921
http://www.sciencedirect.com/science/article/pii/S0969996114003921
Autor:
Robert F. Berman, Nicolas Charlet-Berguerand, Rob F M Verhagen, Chris Raske, Lies Anne Severijnen, Lisanne van Dessel, Alex Maas, Rob Willemsen, Ronald A.M. Buijsen, Paul J. Hagerman, Renate K. Hukema, Ingeborg Nieuwenhuizen-Bakker, Martijn Schonewille, Chris I. De Zeeuw
Publikováno v:
Human Molecular Genetics, 24(17), 4948-4957. Oxford University Press
Human Molecular Genetics, 24(17), 4948-57. Oxford University Press
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (17), pp.4948-4957. ⟨10.1093/hmg/ddv216⟩
Human molecular genetics, vol 24, iss 17
Human Molecular Genetics, 24(17), 4948-57. Oxford University Press
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (17), pp.4948-4957. ⟨10.1093/hmg/ddv216⟩
Human molecular genetics, vol 24, iss 17
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of the fragile X-premutation, who have an expanded CGG repeat in the 5'-UTR of the FMR1 gene. FXTAS is characterized by progressive deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e37c0e3e100d03494d8cb8dfa523b8ec
https://pure.eur.nl/en/publications/345c9968-a30b-439d-8a3c-b17bb7df7b38
https://pure.eur.nl/en/publications/345c9968-a30b-439d-8a3c-b17bb7df7b38
Autor:
Rini de Crom, Chris Raske, Alex Maas, Robert F. Berman, Ingeborg Nieuwenhuizen-Bakker, Renate K. Hukema, Lies Anne Severijnen, Michelle Minneboo, Rob Willemsen, Johan M. Kros, Paul J. Hagerman, Ronald A.M. Buijsen
Publikováno v:
Cell Cycle, 13, 2600-2608. Landes Bioscience
Cell cycle (Georgetown, Tex.), vol 13, iss 16
Cell cycle (Georgetown, Tex.), vol 13, iss 16
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of premutation forms of the FMR1 gene, resulting in a progressive development of tremor, ataxia and neuropsychological problems. The dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8953af8156ed4c051b86b167fd8adfc6
https://pure.eur.nl/en/publications/10475de8-ed1f-4a86-ad44-c2f954eba893
https://pure.eur.nl/en/publications/10475de8-ed1f-4a86-ad44-c2f954eba893