Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Linda M, van der Graaf"'
Autor:
Linde F. Bouwman, Milou E.M. Joosen, Ronald A.M. Buijsen, Linda M. van der Graaf, Barry A. Pepers, Bas J.B. Voesenek, Erwin Brosens, Bart P.C. van de Warrenburg, Willeke M.C. van Roon-Mom
Publikováno v:
Stem Cell Research, Vol 78, Iss , Pp 103462- (2024)
Spinocerebellar Ataxia Type 7 (SCA7) is an autosomal dominantly inherited disorder, primarily characterized by cerebellar ataxia and visual loss. SCA7 is caused by a CAG repeat expansion in exon 3 of the ATXN7 gene. We generated human induced pluripo
Externí odkaz:
https://doaj.org/article/86fe66bc57d249828c2aae4cc8264041
Autor:
Ronald A. M. Buijsen, Linda M. van der Graaf, Elsa C. Kuijper, Barry A. Pepers, Elena Daoutsali, Lotte Weel, Vered Raz, David A. Parfitt, Willeke M. C. van Roon-Mom
Publikováno v:
Biomedicines, Vol 12, Iss 9, p 1933 (2024)
Antisense technology demonstrates significant potential for addressing inherited brain diseases, with over a dozen products already available and numerous others in the development pipeline. The versatility of differentiating induced pluripotent stem
Externí odkaz:
https://doaj.org/article/327ffa18f86647849ab4e8f6806628e2
Autor:
Elena Daoutsali, Barry A. Pepers, Stavros Stamatakis, Linda M. van der Graaf, Gisela M. Terwindt, David A. Parfitt, Ronald A. M. Buijsen, Willeke M. C. van Roon-Mom
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2023)
IntroductionADutch-type cerebral amyloid angiopathy (D-CAA) is a hereditary brain disorder caused by a point mutation in the amyloid precursor protein (APP) gene. The mutation is located within the amyloid beta (Aβ) domain of APP and leads to Aβ pe
Externí odkaz:
https://doaj.org/article/4a429a12a5844e2bbef696b3f8bd5abb
Autor:
Ronald A.M. Buijsen, Sarah L. Gardiner, Marga J. Bouma, Linda M. van der Graaf, Merel W. Boogaard, Barry A. Pepers, Bert Eussen, Annelies de Klein, Christian Freund, Willeke M.C. van Roon-Mom
Publikováno v:
Stem Cell Research, Vol 29, Iss , Pp 125-128 (2018)
Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by a CAG repeat expansion in exon 8 of the ATXN1 gene. We generated induced pluripotent stem cells (hiPSCs) from a SCA1 patient and his non-affected sister by using
Externí odkaz:
https://doaj.org/article/0f02888d0aa44a1ca13441a7103af8da
Autor:
Linda M. van der Graaf, Sarah L. Gardiner, Merve Tok, Tom Brands, Merel W. Boogaard, Barry A. Pepers, Bert Eussen, Annelies de Klein, N. Ahmad Aziz, Christian Freund, Ronald A.M. Buijsen, Willeke M.C. van Roon-Mom
Publikováno v:
Stem Cell Research, Vol 39, Iss , Pp - (2019)
Huntington disease (HD) is an autosomal dominant, neurodegenerative disease caused by a CAG repeat expansion within the coding sequence of the HTT gene, resulting in a highly toxic protein with an expanded polyglutamine stretch that forms typical pro
Externí odkaz:
https://doaj.org/article/3b35dbf51048451798c1c99a33881c96
Autor:
Elena Daoutsali, Ronald A.M. Buijsen, Simone van de Pas, Anke 't Jong, Harald Mikkers, Tom Brands, Bert Eussen, Annelies de Klein, Linda M. van der Graaf, Barry A. Pepers, Christian Freund, Gisela M. Terwindt, Valeria V. Orlova, Willeke M.C. van Roon-Mom
Publikováno v:
Stem Cell Research, Vol 34, Iss , Pp - (2019)
Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant hereditary disease caused by a point mutation in exon 17 of the APP gene. We generated human induced pluripotent stem cells (hiPSCs) from a symptomatic HCHW
Externí odkaz:
https://doaj.org/article/95930d38c64a4aaba11dcfaceede4516
Autor:
Laure Grand Moursel, Willeke M. C. van Roon-Mom, Szymon M. Kiełbasa, Hailiang Mei, Henk P. J. Buermans, Linda M. van der Graaf, Kristina M. Hettne, Emile J. de Meijer, Sjoerd G. van Duinen, Jeroen F. J. Laros, Mark A. van Buchem, Peter A. C. ‘t Hoen, Silvère M. van der Maarel, Louise van der Weerd
Publikováno v:
Frontiers in Aging Neuroscience, Vol 10 (2018)
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is an early onset hereditary form of cerebral amyloid angiopathy (CAA) caused by a point mutation resulting in an amino acid change (NP_000475.1:p.Glu693Gln) in the amyloid precurso
Externí odkaz:
https://doaj.org/article/bb384dd1bf644b69bf85798bd6d2e5e9
Autor:
Barry A. Pepers, Linda M. van der Graaf, Ronald A.M. Buijsen, Tsinatkeab Tadesse Hailu, Elena Daoutsali, Daniel Curtis, Willeke M. C. van Roon-Mom, Thomas Petrus Gerardus De Vlaam, Marcel M. Verbeek
Publikováno v:
Nucleic Acid Therapeutics, 31(5), 351-363. MARY ANN LIEBERT, INC
Nucleic Acid Therapeutics, 31, 351-363
Nucleic Acid Therapeutics, 31, 5, pp. 351-363
Nucleic Acid Therapeutics, 31, 351-363
Nucleic Acid Therapeutics, 31, 5, pp. 351-363
Contains fulltext : 244200.pdf (Publisher’s version ) (Open Access) Dutch-type cerebral amyloid angiopathy (D-CAA) is a monogenic form of cerebral amyloid angiopathy and is inherited in an autosomal dominant manner. The disease is caused by a point
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c4fb9ff282d43ccfb5741edf497975
https://hdl.handle.net/1887/3212997
https://hdl.handle.net/1887/3212997
Autor:
Marjolein Bulk, Willeke M. C. van Roon-Mom, Laure Grand Moursel, Louise van der Weerd, Linda M. van der Graaf
Publikováno v:
Brain Pathology, 29(6), 793-802. WILEY
Brain Pathology, 29(6), 793-802
Brain Pathology (Zurich, Switzerland)
Brain Pathology, 29(6), 793-802
Brain Pathology (Zurich, Switzerland)
In severe forms of cerebral amyloid angiopathy (CAA) pathology, vascular calcification has been observed in the cerebral cortex, both in vivo on MRI and CT, and post‐mortem using histopathology. However, the pathomechanisms leading to calcification
Autor:
Brigit den Adel, Linda M van der Graaf, Gustav J Strijkers, Hildo J Lamb, Robert E Poelmann, Louise van der Weerd
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e57299 (2013)
BACKGROUND: High-resolution contrast-enhanced imaging of the murine atherosclerotic vessel wall is difficult due to unpredictable flow artifacts, motion of the thin artery wall and problems with flow suppression in the presence of a circulating contr
Externí odkaz:
https://doaj.org/article/287216d35b9e411886d16baa4eac3f34