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    Results: 1 to 20 of 56

    1.

    Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis.

    van der Knaap MS, Boor I, Estévez R.

    Lancet Neurol. 2012 Nov;11(11):973-85. doi: 10.1016/S1474-4422(12)70192-8. Review.

    PMID:
    23079554
    [PubMed - indexed for MEDLINE]
    2.

    Clinical and radiological characteristics in multiple sclerosis patients with large cavitary lesions.

    Renard D, Brochet B, Vukusic S, Edan G, Deburghgraeve V, Goizet C, Dupuy D, Touze E, Deschamps R, Zephyr H, Creange A, Castelnovo G, Boespflug-Tanguy O, Labauge P.

    Eur Neurol. 2012;68(3):156-61. Epub 2012 Aug 14.

    PMID:
    22907640
    [PubMed - indexed for MEDLINE]
    3.

    Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.

    Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A.

    Neurogenetics. 2012 Aug;13(3):205-14. doi: 10.1007/s10048-012-0331-z. Epub 2012 May 3.

    PMID:
    22552818
    [PubMed - indexed for MEDLINE]
    4.

    Clinico-radiological spectrum of bilateral temporal lobe hyperintensity: a retrospective review.

    Sureka J, Jakkani RK.

    Br J Radiol. 2012 Sep;85(1017):e782-92. doi: 10.1259/bjr/30039090. Epub 2012 Mar 14. Review.

    PMID:
    22422381
    [PubMed - indexed for MEDLINE]
    5.

    Leukoencephalopathies associated with macrocephaly.

    Renaud DL.

    Semin Neurol. 2012 Feb;32(1):34-41. doi: 10.1055/s-0032-1306384. Epub 2012 Mar 15. Review.

    PMID:
    22422204
    [PubMed - indexed for MEDLINE]
    6.

    Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.

    Xie H, Wang J, Dhaunchak AS, Shang J, Kou L, Guo M, Wu Y, Gu Q, Colman D, Wu X, Jiang Y.

    PLoS One. 2012;7(3):e33087. doi: 10.1371/journal.pone.0033087. Epub 2012 Mar 5.

    PMID:
    22416245
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Leukodystrophies.

    Perlman SJ, Mar S.

    Adv Exp Med Biol. 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. Review.

    PMID:
    22411242
    [PubMed - indexed for MEDLINE]
    8.

    GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.

    Jeworutzki E, López-Hernández T, Capdevila-Nortes X, Sirisi S, Bengtsson L, Montolio M, Zifarelli G, Arnedo T, Müller CS, Schulte U, Nunes V, Martínez A, Jentsch TJ, Gasull X, Pusch M, Estévez R.

    Neuron. 2012 Mar 8;73(5):951-61. doi: 10.1016/j.neuron.2011.12.039.

    PMID:
    22405205
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    A Japanese adult case of megalencephalic leukoencephalopathy with subcortical cysts with a good long-term prognosis.

    Koyama S, Kawanami T, Arawaka S, Wada M, Kato T.

    Intern Med. 2012;51(5):503-6. Epub 2012 Mar 1.

    PMID:
    22382567
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.

    Lanciotti A, Brignone MS, Molinari P, Visentin S, De Nuccio C, Macchia G, Aiello C, Bertini E, Aloisi F, Petrucci TC, Ambrosini E.

    Hum Mol Genet. 2012 May 15;21(10):2166-80. doi: 10.1093/hmg/dds032. Epub 2012 Feb 9.

    PMID:
    22328087
    [PubMed - indexed for MEDLINE]
    Free Article
    11.

    Management of status dystonicus in children. Cases report and review.

    Grosso S, Verrotti A, Messina M, Sacchini M, Balestri P.

    Eur J Paediatr Neurol. 2012 Jul;16(4):390-5. doi: 10.1016/j.ejpn.2011.12.007. Epub 2012 Jan 12.

    PMID:
    22244366
    [PubMed - indexed for MEDLINE]
    12.

    Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.

    Ridder MC, Boor I, Lodder JC, Postma NL, Capdevila-Nortes X, Duarri A, Brussaard AB, Estévez R, Scheper GC, Mansvelder HD, van der Knaap MS.

    Brain. 2011 Nov;134(Pt 11):3342-54. doi: 10.1093/brain/awr255. Epub 2011 Oct 17.

    PMID:
    22006981
    [PubMed - indexed for MEDLINE]
    Free Article
    13.

    Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.

    López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, van der Knaap MS, Casquero P, Ciruela F, Ferrer I, Nunes V, Estévez R.

    Hum Mol Genet. 2011 Aug 15;20(16):3266-77. doi: 10.1093/hmg/ddr238. Epub 2011 May 30.

    PMID:
    21624973
    [PubMed - indexed for MEDLINE]
    Free Article
    14.

    Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.

    Shukla P, Gupta N, Ghosh M, Vasisht S, Gulati S, Balakrishnan P, Sharma R, Gupta AK, Kamate M, Kalra V, Kabra M.

    Pediatr Neurol. 2011 Jun;44(6):450-8. doi: 10.1016/j.pediatrneurol.2011.01.003.

    PMID:
    21555057
    [PubMed - indexed for MEDLINE]
    15.

    A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.

    Delmonaco AG, Gaidolfi E, Scheper GC, Girardo E, Molinatto C, Belligni E, Ferrero GB, Cirillo Silengo M, Van Der Knaap M.

    Minerva Pediatr. 2011 Apr;63(2):125-9.

    PMID:
    21487377
    [PubMed - indexed for MEDLINE]
    16.

    Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.

    Duarri A, Lopez de Heredia M, Capdevila-Nortes X, Ridder MC, Montolio M, López-Hernández T, Boor I, Lien CF, Hagemann T, Messing A, Gorecki DC, Scheper GC, Martínez A, Nunes V, van der Knaap MS, Estévez R.

    Neurobiol Dis. 2011 Jul;43(1):228-38. doi: 10.1016/j.nbd.2011.03.015. Epub 2011 Apr 3.

    PMID:
    21440627
    [PubMed - indexed for MEDLINE]
    17.

    Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.

    López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS.

    Am J Hum Genet. 2011 Apr 8;88(4):422-32. doi: 10.1016/j.ajhg.2011.02.009. Epub 2011 Mar 17.

    PMID:
    21419380
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Teaching NeuroImages: megaloencephalic leukoencephalopathy with subcortical cysts (Van der Knaap disease).

    Singh P, Saggar K, Ahluwalia A, Sandhu P.

    Neurology. 2011 Feb 22;76(8):e34. doi: 10.1212/WNL.0b013e31820d8b2f. No abstract available.

    PMID:
    21339493
    [PubMed - indexed for MEDLINE]
    19.

    A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

    Boor I.

    J Hum Genet. 2011 Mar;56(3):173. doi: 10.1038/jhg.2011.5. Epub 2011 Feb 10. No abstract available.

    PMID:
    21307857
    [PubMed - indexed for MEDLINE]
    20.

    Late onset of leucoencephalopathy with cerebral calcifications and cysts.

    Coeytaux A, Lobrinus JA, Horvath J, Kurian M, Vargas MI.

    J Neuroradiol. 2011 Dec;38(5):319-20. doi: 10.1016/j.neurad.2010.08.004. Epub 2011 Jan 20. No abstract available.

    PMID:
    21255840
    [PubMed - indexed for MEDLINE]
    Free Article

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