Zobrazeno 1 - 10
of 41
pro vyhledávání: '"M Abbink"'
Autor:
Emma M. J. Passchier, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Rogier Min
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilep
Externí odkaz:
https://doaj.org/article/5d8759cb088045a8823df2ec24ddd0cb
Autor:
Diede Witkamp, Ellen Oudejans, Leoni Hoogterp, Gino V. Hu-A-Ng, Kathryn A. Glaittli, Tamara J. Stevenson, Marleen Huijsmans, Truus E. M. Abbink, Marjo S. van der Knaap, Joshua L. Bonkowsky
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Vanishing white matter (VWM) is a devastating autosomal recessive leukodystrophy, resulting in neurological deterioration and premature death, and without curative treatment. Pathogenic hypomorphic variants in subunits of the eukaryotic initiation fa
Externí odkaz:
https://doaj.org/article/4fb950a2d5154f3bac0ae37e6d893ed1
Autor:
Marianna Bugiani, Truus E. M. Abbink, Arthur W. D. Edridge, Lia van derHoek, Anne E. J. Hillen, Niek P. vanTil, Gino V. Hu‐A‐Ng, Marjolein Breur, Karen Aiach, Philippe Drevot, Michaël Hocquemiller, Ralph Laufer, Frits A. Wijburg, Marjo S. van derKnaap
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 6, Pp 904-917 (2023)
Abstract Objective Mucopolysaccharidosis type IIIA (MPSIIIA) caused by recessive SGSH variants results in sulfamidase deficiency, leading to neurocognitive decline and death. No disease‐modifying therapy is available. The AAVance gene therapy trial
Externí odkaz:
https://doaj.org/article/7b120ba2fed845d38eb844ce2a9e52f1
Autor:
Diede Witkamp, Ellen Oudejans, Gino V. Hu‐A‐Ng, Leoni Hoogterp, Aleksandra M. Krzywańska, Milo Žnidaršič, Kevin Marinus, Christina F. deVeij Mestdagh, Imke Bartelink, Marianna Bugiani, Marjo S. van derKnaap, Truus E. M. Abbink
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1147-1162 (2022)
Abstract Objective Vanishing white matter (VWM) is a leukodystrophy, characterized by stress‐sensitive neurological deterioration and premature death. It is currently without curative treatment. It is caused by bi‐allelic pathogenic variants in t
Externí odkaz:
https://doaj.org/article/c5e06aa30a734f0dbbe6d14d942036f7
Publikováno v:
Retrovirology, Vol 17, Iss 1, Pp 1-16 (2020)
Abstract Background HIV-1 does not encode a helicase and hijacks those of the cell for efficient replication. We and others previously showed that the DEAD box helicase, DDX5, is an essential HIV dependency factor. DDX5 was recently shown to be assoc
Externí odkaz:
https://doaj.org/article/dcfa21ebe39049fb93163139deb473ef
Autor:
Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina M. Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L. Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S. van derKnaap, Cas Simons, Ryan J. Taft, Adeline Vanderver
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 144-152 (2020)
Abstract Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an addition
Externí odkaz:
https://doaj.org/article/b313ae0552894ab4b545c7fc6b8eee71
Autor:
Truus E. M. Abbink, Lisanne E. Wisse, Ermelinda Jaku, Michiel J. Thiecke, Daniel Voltolini‐González, Hein Fritsen, Sander Bobeldijk, Timo J. terBraak, Emiel Polder, Nienke L. Postma, Marianna Bugiani, Eduard A. Struijs, Mark Verheijen, Nina Straat, Sophie van derSluis, Adri A. M. Thomas, Douwe Molenaar, Marjo S. van derKnaap
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1407-1422 (2019)
Abstract Objective Vanishing white matter (VWM) is a fatal, stress‐sensitive leukodystrophy that mainly affects children and is currently without treatment. VWM is caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B) that is cru
Externí odkaz:
https://doaj.org/article/bc70e13747d84b12b5b25ba59f4dcbfe
Autor:
Inna Slynko, Stephanie Nguyen, Eline M. C. Hamilton, Lisanne E. Wisse, Iwan J. P. deEsch, Chris deGraaf, John B. Bruning, Christopher G. Proud, Truus E. M. Abbink, Marjo S. van derKnaap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Abstract Background Vanishing white matter (VWM) is a leukodystrophy, caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B)‐subunit genes (EIF2B1–EIF2B5); 80% are missense mutations. Clinical severity is highly variable, with a
Externí odkaz:
https://doaj.org/article/c5d9110157154fc9adce3ee143db795c
Autor:
Emma M J Passchier, Sven Kerst, Eelke Brouwers, Eline M C Hamilton, Quinty Bisseling, Marianna Bugiani, Quinten Waisfisz, Philip Kitchen, Lucas Unger, Marjolein Breur, Leoni Hoogterp, Sharon I de Vries, Truus E M Abbink, Maarten H P Kole, Rob Leurs, Henry F Vischer, Maria S Brignone, Elena Ambrosini, François Feillet, Alfred P Born, Leon G Epstein, Huibert D Mansvelder, Rogier Min, Marjo S van der Knaap
Publikováno v:
Brain. Oxford University Press
Brain oedema is a life-threatening complication of various neurological conditions. Understanding molecular mechanisms of brain volume regulation is critical for therapy development. Unique insight comes from monogenic diseases characterized by chron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4ab8f0d13111ae7eb9457056d03141c
https://doi.org/10.1093/brain/awad146
https://doi.org/10.1093/brain/awad146
Autor:
Lisanne E. Wisse, Renske Penning, Esther A. Zaal, Carola G. M. van Berkel, Timo J. ter Braak, Emiel Polder, Justin W. Kenney, Christopher G. Proud, Celia R. Berkers, Maarten A. F. Altelaar, Dave Speijer, Marjo S. van der Knaap, Truus E. M. Abbink
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 11 (2017)
Vanishing white matter (VWM) is a leukodystrophy with predominantly early-childhood onset. Affected children display various neurological signs, including ataxia and spasticity, and die early. VWM patients have bi-allelic mutations in any of the five
Externí odkaz:
https://doaj.org/article/a9b90c5610104ba2a6d226daf4f5408c