147 related articles for article (PubMed ID: 35468122)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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. PubMed ID: 22382567
[TBL] [Abstract][Full Text] [Related]
7. Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration.
Dash PK; Raj DH; Sahu H
BMJ Case Rep; 2015 Sep; 2015():. PubMed ID: 26392452
[TBL] [Abstract][Full Text] [Related]
8. Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner's syndrome.
Brožová K; Krásničanová H; Rusina R
Clin Neurol Neurosurg; 2019 Sep; 184():105400. PubMed ID: 31302377
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Megalencephalic leukoencephalopathy with subcortical cysts.
Singhal BS; Gorospe JR; Naidu S
J Child Neurol; 2003 Sep; 18(9):646-52. PubMed ID: 14572144
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. [Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].
Zhu LN; Ma XW; Zheng T; He F; Feng ZC
Zhongguo Dang Dai Er Ke Za Zhi; 2015 Apr; 17(4):367-70. PubMed ID: 25919557
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]