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208 results

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Page 1
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M. Dewulf JP, et al. Ann Neurol. 2019 Mar;85(3):385-395. doi: 10.1002/ana.25412. Epub 2019 Jan 29. Ann Neurol. 2019. PMID: 30635937
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli FM, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E. Patrono C, et al. Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca. Neurology. 2003. PMID: 12939431
Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings.
Auvin S, Bellavoine V, Merdariu D, Delanoë C, Elmaleh-Bergés M, Gressens P, Boespflug-Tanguy O. Auvin S, et al. Eur J Paediatr Neurol. 2012 Sep;16(5):413-21. doi: 10.1016/j.ejpn.2012.01.007. Epub 2012 Feb 14. Eur J Paediatr Neurol. 2012. PMID: 22341151 Review.
Inborn errors of brain myelin formation.
Boespflug-Tanguy O. Boespflug-Tanguy O. Handb Clin Neurol. 2013;113:1581-92. doi: 10.1016/B978-0-444-59565-2.00027-7. Handb Clin Neurol. 2013. PMID: 23622380 Review.
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI. Crow YJ, et al. Neuropediatrics. 2014 Dec;45(6):386-93. doi: 10.1055/s-0034-1389161. Epub 2014 Sep 22. Neuropediatrics. 2014. PMID: 25243380
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P. Ayrignac X, et al. Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19. Brain. 2015. PMID: 25527826
208 results