Zobrazeno 1 - 10
of 412
pro vyhledávání: '"Marjo S, van der Knaap"'
Autor:
Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxychol
Externí odkaz:
https://doaj.org/article/06bcf3f754ad448a8d1311bfc4c466de
Autor:
Bonnie C. Plug, Ilma M. Revers, Marjolein Breur, Gema Muñoz González, Jaap A. Timmerman, Niels R.C. Meijns, Daniek Hamberg, Jikke Wagendorp, Erik Nutma, Nicole I. Wolf, Antonio Luchicchi, Huibert D. Mansvelder, Niek P. van Til, Marjo S. van der Knaap, Marianna Bugiani
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-17 (2024)
Abstract Human brain experimental models recapitulating age- and disease-related characteristics are lacking. There is urgent need for human-specific tools that model the complex molecular and cellular interplay between different cell types to assess
Externí odkaz:
https://doaj.org/article/95f2002b28a24aafa6da02213860ae53
Autor:
Fleur Cordier, Pieter Wesseling, Bastiaan B.J. Tops, Lennart Kester, Pim J. French, Martin van den Bent, Felix Hinz, Eleonora Aronica, K. Mariam Slot, Floor Abbink, Marjo S. van der Knaap, Mariette Kranendonk
Publikováno v:
Free Neuropathology, Vol 5 (2024)
L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare neurometabolic disorder characterized by accumulation of L2-hydroxyglutarate (L-2-HG) due to mutations in the L2HGDH gene. L-2-HGA patients have a significantly increased lifetime risk of central nervo
Externí odkaz:
https://doaj.org/article/76131753349b40da859805ae52ca1d42
Autor:
Daphne H. Schoenmakers, Prisca S. Leferink, Adeline Vanderver, Joshua L. Bonkowsky, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Brent L. Fogel, Nicole I. Wolf, Donna Skwirut, Allyson Buck, Brett Holberg, Elise F. Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Menno D. Stellingwerff, Johannes Berkhof, Marjo S. van der Knaap
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-15 (2023)
Abstract Background The leukodystrophy “Vanishing White Matter” (VWM) is an orphan disease with neurological decline and high mortality. Currently, VWM has no approved treatments, but advances in understanding pathophysiology have led to identifi
Externí odkaz:
https://doaj.org/article/8f4af726592c4d9fb60b72f567204c44
Autor:
Jodie H.K. Man, Charlotte A.G.H. van Gelder, Marjolein Breur, Douwe Molenaar, Truus Abbink, Maarten Altelaar, Marianna Bugiani, Marjo S. van der Knaap
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-14 (2023)
Abstract Vanishing white matter (VWM) is a leukodystrophy that primarily manifests in young children. In this disease, the brain white matter is differentially affected in a predictable pattern with telencephalic brain areas being most severely affec
Externí odkaz:
https://doaj.org/article/20b934769db84a50b07754739ab32d42
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:
Ellen Oudejans, Gemma van Rooijen-van Leeuwen, Asako Takanohashi, Sophie van der Sluis, Truus E.M. Abbink, Adeline L. Vanderver, Marjo S. van der Knaap
Publikováno v:
Brain Disorders, Vol 12, Iss , Pp 100101- (2023)
Vanishing white matter (VWM) is a leukodystrophy caused by bi-allelic pathogenic variants in the eukaryotic initiation factor 2B (eIF2B). eIF2B orchestrates the integrated stress response (ISR), a physiological response to cellular stress. In VWM bra
Externí odkaz:
https://doaj.org/article/bb54e559d9cd48c3a499f7b716c7a40a
Autor:
Anne E.J. Hillen, Martina Hruzova, Tanja Rothgangl, Marjolein Breur, Marianna Bugiani, Marjo S. van der Knaap, Gerald Schwank, Vivi M. Heine
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 17-25 (2022)
Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in subunits of eIF2B. At present, no curative treatment is available and patients often die at young age. Due to its monogenic nature, VWM is a promising candidate for the
Externí odkaz:
https://doaj.org/article/d51fbd1fddf8449885eaa46a547d3024
Autor:
Menno D. Stellingwerff, Petra J.W. Pouwels, Stefan D. Roosendaal, Frederik Barkhof, Marjo S. van der Knaap
Publikováno v:
NeuroImage: Clinical, Vol 38, Iss , Pp 103427- (2023)
Leukodystrophies constitute a large and heterogeneous group of genetic diseases primarily affecting the white matter of the central nervous system. Different disorders target different white matter structural components. Leukodystrophies are most oft
Externí odkaz:
https://doaj.org/article/ba943e402c6f45a5b26c86e2ccd3c664