Zobrazeno 1 - 3
of 3
pro vyhledávání: '"P. K. Ilja Boor"'
Autor:
P. K. Ilja Boor, Gert C. Scheper, Marjo S. van der Knaap, Christiana Brenner, Vlatka Mejaški-Bošnjak, Koen de Groot, Jan C. Pronk
Publikováno v:
Boor, P K I, De Groot, K, Mejaski-Bosnjak, V, Brenner, C, Van Der Knaap, M S, Scheper, G C & Pronk, J C 2006, ' Megalencephalic leukoencephalopathy with subcortical cysts : An update and extended mutation analysis of MLC1 ', Human Mutation, vol. 27, no. 6, pp. 505-512 . https://doi.org/10.1002/humu.20332
Human mutation, 27(6), 505-512. Wiley-Liss Inc.
Human mutation, 27(6), 505-512. Wiley-Liss Inc.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive cerebral white matter disorder in children. This disease is histopathologically characterized by myelin splitting and intramyelinic vacuole formation. MLC is c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eae67003c36bb5359bbd494f8b3d642
https://doi.org/10.1002/humu.20332
https://doi.org/10.1002/humu.20332
Autor:
Marjo S. van der Knaap, Cees B.M. Oudejans, Gert C. Scheper, Wouter Kamphorst, Koen de Groot, Quinten Waisfisz, James M. Powers, P. K. Ilja Boor, Jan C. Pronk
Publikováno v:
Journal of Neuropathology and Experimental Neurology, 64(5), 412-419. OUP
Boor, PKI, de Groot, K, Waisfisz, Q, Kamphorst, W, Oudejans, CBM, Powers, JM, Pronk, JC, Scheper, GC & van der Knaap, MS 2005, ' MLC1: A novel protein in distal astroglial processes ', Journal of Neuropathology and Experimental Neurology, vol. 64, no. 5, pp. 412-419 .
Journal of Neuropathology and Experimental Neurology, 64(5), 412-419. Lippincott Williams and Wilkins
Boor, P K I, de Groot, K, Waisfisz, Q, Kamphorst, W, Oudejans, C B M, Powers, J M, Pronk, J C, Scheper, G C & van der Knaap, M S 2005, ' MLC1: a novel protein in distal astroglial processes ', Journal of Neuropathology and Experimental Neurology, vol. 64, no. 5, pp. 412-419 .
Boor, PKI, de Groot, K, Waisfisz, Q, Kamphorst, W, Oudejans, CBM, Powers, JM, Pronk, JC, Scheper, GC & van der Knaap, MS 2005, ' MLC1: A novel protein in distal astroglial processes ', Journal of Neuropathology and Experimental Neurology, vol. 64, no. 5, pp. 412-419 .
Journal of Neuropathology and Experimental Neurology, 64(5), 412-419. Lippincott Williams and Wilkins
Boor, P K I, de Groot, K, Waisfisz, Q, Kamphorst, W, Oudejans, C B M, Powers, J M, Pronk, J C, Scheper, G C & van der Knaap, M S 2005, ' MLC1: a novel protein in distal astroglial processes ', Journal of Neuropathology and Experimental Neurology, vol. 64, no. 5, pp. 412-419 .
Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive cerebral white matter disease in children caused by mutations in the MLC1 gene. This disease is histopathologically characterized by myelin splitting and intramyelinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e37cbcb8165d2453eb1c268e192b2c4
https://hdl.handle.net/1871.1/6ddc0d6a-30ac-4095-960c-d179310d6f3c
https://hdl.handle.net/1871.1/6ddc0d6a-30ac-4095-960c-d179310d6f3c
Autor:
P. K. Ilja Boor, Bao Qiang Yuan, Vlatka Mejaški-Bošnjak, Joyce Mulders, Silvère M. van der Maarel, Peter A. J. Leegwater, Rune R. Frants, Ruud B.H. Schutgens, Jan C. Pronk, Jeffrey van der Steen, Andrea A.M. Könst, Marjo S. van der Knaap, Cees B.M. Oudejans
Publikováno v:
American journal of human genetics, 68(4), 831-838. Cell Press
Leegwater, P A J, Yuan, B Q, Van der Steen, J, Mulders, J, Könst, A A M, Boor, P K I, Mejaski-Bosnjak, V, Van der Maarel, S M, Frants, R R, Oudejans, C B M, Schutgens, R B H, Pronk, J C & Van der Knaap, M S 2001, ' Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts ', American journal of human genetics, vol. 68, no. 4, pp. 831-838 . https://doi.org/10.1086/319519
Leegwater, P A J, Yuan, B Q, Van der Steen, J, Mulders, J, Könst, A A M, Boor, P K I, Mejaski-Bosnjak, V, Van der Maarel, S M, Frants, R R, Oudejans, C B M, Schutgens, R B H, Pronk, J C & Van der Knaap, M S 2001, ' Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts ', American journal of human genetics, vol. 68, no. 4, pp. 831-838 . https://doi.org/10.1086/319519
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor functions with ataxia, and spasticity, eventuating in mental decline. The brain appears swollen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cb7699dd9c28d690e88b220b1041ff7
https://pubmed.ncbi.nlm.nih.gov/11254442
https://pubmed.ncbi.nlm.nih.gov/11254442