These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
163 related articles for article (PubMed ID: 34918859)
1. A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration. Ain Ul Batool S; Almatrafi A; Fadhli F; Alluqmani M; Sadia ; Ali G; Basit S Am J Med Genet A; 2022 Apr; 188(4):1075-1082. PubMed ID: 34918859 [TBL] [Abstract][Full Text] [Related]
2. 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; 88(4):422-32. PubMed ID: 21419380 [TBL] [Abstract][Full Text] [Related]
3. Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families. Khalaf-Nazzal R; Dweikat I; Maree M; Alawneh M; Barahmeh M; Doulani RT; Qrareya M; Qadi M; Dudin A Brain Dev; 2022 Aug; 44(7):454-461. PubMed ID: 35440380 [TBL] [Abstract][Full Text] [Related]
4. Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts. Zha J; Chen Y; Cao F; Xu Y; Yang Z; Wen S; Liang M; Wu H; Zhong J Mol Genet Genomic Med; 2024 Feb; 12(2):e2394. PubMed ID: 38337154 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect. Abdel-Salam GM; Abdel-Hamid MS; Ismail SI; Hosny H; Omar T; Effat L; Aglan MS; Temtamy SA; Zaki MS Metab Brain Dis; 2016 Oct; 31(5):1171-9. PubMed ID: 27389245 [TBL] [Abstract][Full Text] [Related]
7. A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22. Choi SA; Kim SY; Yoon J; Choi J; Park SS; Seong MW; Kim H; Hwang H; Choi JE; Chae JH; Kim KJ; Kim S; Lee YJ; Nam SO; Lim BC Ann Lab Med; 2017 Nov; 37(6):516-521. PubMed ID: 28840990 [TBL] [Abstract][Full Text] [Related]
8. Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models. Shi Z; Yan HF; Cao BB; Guo MM; Xie H; Gao K; Xiao JX; Yang YL; Xiong H; Gu Q; Li M; Wu Y; Jiang YW; Wang JM World J Pediatr; 2019 Oct; 15(5):454-464. PubMed ID: 31372844 [TBL] [Abstract][Full Text] [Related]
9. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Gorospe JR; Singhal BS; Kainu T; Wu F; Stephan D; Trent J; Hoffman EP; Naidu S Neurology; 2004 Mar; 62(6):878-82. PubMed ID: 15037685 [TBL] [Abstract][Full Text] [Related]
10. Novel variants causing megalencephalic leukodystrophy in Sudanese families. Amin M; Vignal C; Hamed AAA; Mohammed IN; Elseed MA; Drunat S; Babai A; Eltaraifee E; Elbadi I; Abubaker R; Mustafa D; Yahia A; Koko M; Osman M; Bakhit Y; Elshafea A; Alsiddig M; Haroun S; Lelay G; Elsayed LEO; Ahmed AE; Boespflug-Tanguy O; Dorboz I J Hum Genet; 2022 Mar; 67(3):127-132. PubMed ID: 34504271 [TBL] [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 [TBL] [Abstract][Full Text] [Related]
12. Megalencephalic leukoencephalopathy with subcortical cysts: the importance of early diagnosis. Bravo-Oro A; Reyes-Vaca JG; Noriega-Reyes MF; Esmer C Bol Med Hosp Infant Mex; 2022; 79(2):129-134. PubMed ID: 35468122 [TBL] [Abstract][Full Text] [Related]
13. Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research. Cao B; Yan H; Guo M; Xie H; Wu Y; Gu Q; Xiao J; Shang J; Yang Y; Xiong H; Niu Z; Wu X; Jiang Y; Wang J PLoS One; 2016; 11(6):e0157258. PubMed ID: 27322623 [TBL] [Abstract][Full Text] [Related]
14. Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants. Hamilton EMC; Tekturk P; Cialdella F; van Rappard DF; Wolf NI; Yalcinkaya C; Çetinçelik Ü; Rajaee A; Kariminejad A; Paprocka J; Yapici Z; Bošnjak VM; van der Knaap MS; Neurology; 2018 Apr; 90(16):e1395-e1403. PubMed ID: 29661901 [TBL] [Abstract][Full Text] [Related]
15. Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective. Estévez R; Elorza-Vidal X; Gaitán-Peñas H; Pérez-Rius C; Armand-Ugón M; Alonso-Gardón M; Xicoy-Espaulella E; Sirisi S; Arnedo T; Capdevila-Nortes X; López-Hernández T; Montolio M; Duarri A; Teijido O; Barrallo-Gimeno A; Palacín M; Nunes V Eur J Med Genet; 2018 Jan; 61(1):50-60. PubMed ID: 29079544 [TBL] [Abstract][Full Text] [Related]
16. Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. Sirisi S; Folgueira M; López-Hernández T; Minieri L; Pérez-Rius C; Gaitán-Peñas H; Zang J; Martínez A; Capdevila-Nortes X; De La Villa P; Roy U; Alia A; Neuhauss S; Ferroni S; Nunes V; Estévez R; Barrallo-Gimeno A Hum Mol Genet; 2014 Oct; 23(19):5069-86. PubMed ID: 24824219 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A. Kaur N; Arora K; Radhakrishnan P; Narayanan DL; Shukla A Neurogenetics; 2024 Apr; 25(2):85-91. PubMed ID: 38280046 [TBL] [Abstract][Full Text] [Related]
19. 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; 20(16):3266-77. PubMed ID: 21624973 [TBL] [Abstract][Full Text] [Related]