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Page 1
Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.
Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, Abbink TE, Scheper GC, Boor I, Lodder JC, Mansvelder HD, van der Knaap MS. Dubey M, et al. Among authors: bugiani m. Ann Neurol. 2015 Jan;77(1):114-31. doi: 10.1002/ana.24307. Epub 2014 Dec 4. Ann Neurol. 2015. PMID: 25382142
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS. Scheper GC, et al. Among authors: bugiani m. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 Mar 25. Nat Genet. 2007. PMID: 17384640
Phenotypic characterization of hypomyelination and congenital cataract.
Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Biancheri R, et al. Among authors: bugiani m. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Ann Neurol. 2007. PMID: 17683097
Leukoencephalopathy with vanishing white matter: a review.
Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS. Bugiani M, et al. J Neuropathol Exp Neurol. 2010 Oct;69(10):987-96. doi: 10.1097/NEN.0b013e3181f2eafa. J Neuropathol Exp Neurol. 2010. PMID: 20838246 Review.
Defective glial maturation in vanishing white matter disease.
Bugiani M, Boor I, van Kollenburg B, Postma N, Polder E, van Berkel C, van Kesteren RE, Windrem MS, Hol EM, Scheper GC, Goldman SA, van der Knaap MS. Bugiani M, et al. J Neuropathol Exp Neurol. 2011 Jan;70(1):69-82. doi: 10.1097/NEN.0b013e318203ae74. J Neuropathol Exp Neurol. 2011. PMID: 21157376 Free PMC article.
Hypomyelination and congenital cataract: broadening the clinical phenotype.
Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, Wolf NI. Biancheri R, et al. Among authors: bugiani m. Arch Neurol. 2011 Sep;68(9):1191-4. doi: 10.1001/archneurol.2011.201. Arch Neurol. 2011. PMID: 21911699 Review.
Restricted diffusion in vanishing white matter.
van der Lei HD, Steenweg ME, Bugiani M, Pouwels PJ, Vent IM, Barkhof F, van Wieringen WN, van der Knaap MS. van der Lei HD, et al. Among authors: bugiani m. Arch Neurol. 2012 Jun;69(6):723-7. doi: 10.1001/archneurol.2011.1658. Arch Neurol. 2012. PMID: 22312162
304 results