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Journal Abstract Search

217 related items for PubMed ID: 11935341

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  • 7. A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.
    Saijo H, Nakayama H, Ezoe T, Araki K, Sone S, Hamaguchi H, Suzuki H, Shiroma N, Kanazawa N, Tsujino S, Hirayama Y, Arima M.
    Brain Dev; 2003 Aug; 25(5):362-6. PubMed ID: 12850517
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  • 8. Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.
    Yiş U, Scheper GC, Uran N, Unalp A, Cakmakçi H, Hiz-Kurul S, Dirik E, van der Knaap MS.
    Turk J Pediatr; 2010 Aug; 52(2):179-83. PubMed ID: 20560255
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  • 10. Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy.
    Tinsa F, Farid O, Douira W, Rodriguez D, Burglen L, Boussetta K, Bousnina S.
    J Child Neurol; 2009 Jan; 24(1):87-9. PubMed ID: 19168821
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  • 12. Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
    Kariminejad A, Rajaee A, Ashrafi MR, Alizadeh H, Tonekaboni SH, Malamiri RA, Ghofrani M, Karimzadeh P, Mohammadi MM, Baghalshooshtari A, Bozorgmehr B, Kariminejad MH, Postma N, Abbink TE, van der Knaap MS.
    Eur J Med Genet; 2015 Feb; 58(2):71-4. PubMed ID: 25497041
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  • 15. Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.
    Teijido O, Martínez A, Pusch M, Zorzano A, Soriano E, Del Río JA, Palacín M, Estévez R.
    Hum Mol Genet; 2004 Nov 01; 13(21):2581-94. PubMed ID: 15367490
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  • 17. [Genetic analysis and prenatal diagnosis for a family with megalencephalic leukoencephalopathy and subcortical cysts].
    Wu WQ, Xie JS, Han CX, Xu ZY, Geng Q, Yuan H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec 01; 28(6):616-9. PubMed ID: 22161090
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  • 19. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
    Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.
    Am J Hum Genet; 2001 Apr 01; 68(4):831-8. PubMed ID: 11254442
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