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380 related items for PubMed ID: 19168821
1. 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 [Abstract] [Full Text] [Related]
2. 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 Jan; 52(2):179-83. PubMed ID: 20560255 [Abstract] [Full Text] [Related]
5. Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review. Miles L, DeGrauw TJ, Dinopoulos A, Cecil KM, van der Knaap MS, Bove KE. Pediatr Dev Pathol; 2009 Sep; 12(3):180-6. PubMed ID: 18821826 [Abstract] [Full Text] [Related]
6. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, Pronk JC. Hum Mutat; 2006 Jun; 27(6):505-12. PubMed ID: 16652334 [Abstract] [Full Text] [Related]
7. Megalencephalic leukoencephalopathy with subcortical cysts. Hari Krishnan K, Leema Pauline C, Kumaresan G, Vasantha Mallika TK. Indian Pediatr; 2005 Jan; 42(1):60-3. PubMed ID: 15695862 [Abstract] [Full Text] [Related]
8. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Leegwater PA, Boor PK, Yuan BQ, van der Steen J, Visser A, Könst AA, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Hum Genet; 2002 Mar; 110(3):279-83. PubMed ID: 11935341 [Abstract] [Full Text] [Related]
9. An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI. Itoh N, Maeda M, Naito Y, Narita Y, Kuzuhara S. Eur Neurol; 2006 Mar; 56(4):243-5. PubMed ID: 17077634 [No Abstract] [Full Text] [Related]
11. Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients. Mahmoud IG, Mahmoud M, Refaat M, Girgis M, Waked N, El Badawy A, Selim L, Hassan S, Abdel Aleem AK. Pediatr Neurol; 2014 Feb; 50(2):140-8. PubMed ID: 24315536 [Abstract] [Full Text] [Related]
16. 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 [Abstract] [Full Text] [Related]
17. Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Rubie C, Lichtner P, Gärtner J, Siekiera M, Uziel G, Kohlmann B, Kohlschütter A, Meitinger T, Stöber G, Bettecken T. Hum Mutat; 2003 Jan; 21(1):45-52. PubMed ID: 12497630 [Abstract] [Full Text] [Related]