220 related articles for article (PubMed ID: 11935341)
1. 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
[TBL] [Abstract][Full Text] [Related]
2. 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; 12(3):180-6. PubMed ID: 18821826
[TBL] [Abstract][Full Text] [Related]
3. Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.
Ben-Zeev B; Levy-Nissenbaum E; Lahat H; Anikster Y; Shinar Y; Brand N; Gross-Tzur V; MacGregor D; Sidi R; Kleta R; Frydman M; Pras E
Hum Genet; 2002 Aug; 111(2):214-8. PubMed ID: 12189496
[TBL] [Abstract][Full Text] [Related]
4. 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
[TBL] [Abstract][Full Text] [Related]
5. The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain.
Schmitt A; Gofferje V; Weber M; Meyer J; Mössner R; Lesch KP
Glia; 2003 Dec; 44(3):283-95. PubMed ID: 14603469
[TBL] [Abstract][Full Text] [Related]
6. 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
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
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; 52(2):179-83. PubMed ID: 20560255
[TBL] [Abstract][Full Text] [Related]
9. Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
van der Knaap MS; Lai V; Köhler W; Salih MA; Fonseca MJ; Benke TA; Wilson C; Jayakar P; Aine MR; Dom L; Lynch B; Kálmánchey R; Pietsch P; Errami A; Scheper GC
Ann Neurol; 2010 Jun; 67(6):834-7. PubMed ID: 20517947
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 21487377
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
13. 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; 21(10):2166-80. PubMed ID: 22328087
[TBL] [Abstract][Full Text] [Related]
14. Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Blattner R; Von Moers A; Leegwater PA; Hanefeld FA; Van Der Knaap MS; Köhler W
Neuropediatrics; 2003 Aug; 34(4):215-8. PubMed ID: 12973664
[TBL] [Abstract][Full Text] [Related]
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; 13(21):2581-94. PubMed ID: 15367490
[TBL] [Abstract][Full Text] [Related]
16. 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
[TBL] [Abstract][Full Text] [Related]
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; 28(6):616-9. PubMed ID: 22161090
[TBL] [Abstract][Full Text] [Related]
18. Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.
Petrini S; Minnone G; Coccetti M; Frank C; Aiello C; Cutarelli A; Ambrosini E; Lanciotti A; Brignone MS; D'Oria V; Strippoli R; De Benedetti F; Bertini E; Bracci-Laudiero L
Mol Cell Neurosci; 2013 Sep; 56():307-21. PubMed ID: 23851226
[TBL] [Abstract][Full Text] [Related]
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; 68(4):831-8. PubMed ID: 11254442
[TBL] [Abstract][Full Text] [Related]
20. Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.
Riel-Romero RM; Smith CD; Pettigrew AL
J Child Neurol; 2005 Mar; 20(3):230-4. PubMed ID: 15832614
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]