133 related articles for article (PubMed ID: 15596790)
1. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.
Valk J
Neurology; 2004 Dec; 63(11):2197; author reply 2197. PubMed ID: 15596790
[No Abstract] [Full Text] [Related]
2. 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]
3. A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts-1 in north Indian kindred.
Vellarikkal SK; Jayarajan R; Verma A; Ravi R; Senthilvel V; Kumar A; Saini L; Gulati S; Lal M; Mathur A; Chhetri MK; Faruq M; Scaria V; Sivasubbu S
Clin Genet; 2018 Aug; 94(2):271-273. PubMed ID: 29667716
[No 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. 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]
6. Prenatal diagnosis of megalencephalic leukodystrophy.
Shukla P; Balakrishnan P; Agarwal N; Ghosh M; Kabra M; Sharma R; Deka D; Kalra V
Prenat Diagn; 2008 Apr; 28(4):357-9. PubMed ID: 18330867
[No Abstract] [Full Text] [Related]
7. Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain.
Masuda T; Ueda M; Ueyama H; Shimada S; Ishizaki M; Imamura S; Yamamoto T; Ando Y
J Neurol Sci; 2015 Apr; 351(1-2):211-213. PubMed ID: 25796299
[No Abstract] [Full Text] [Related]
8. Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.
Shukla P; Gupta N; Ghosh M; Vasisht S; Gulati S; Balakrishnan P; Sharma R; Gupta AK; Kamate M; Kalra V; Kabra M
Pediatr Neurol; 2011 Jun; 44(6):450-8. PubMed ID: 21555057
[TBL] [Abstract][Full Text] [Related]
9. Leukodystrophies: Indian scenario.
Singhal BS
Indian J Pediatr; 2005 Apr; 72(4):315-8. PubMed ID: 15876760
[TBL] [Abstract][Full Text] [Related]
10. Megalencephalic leukoencephalopathy with subcortical cysts.
Juneja M; Sharma S
Indian J Pediatr; 2005 Feb; 72(2):179-80. PubMed ID: 15758546
[No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. [Effects on astrocytic function from MLC1 gene mutation with megalencephalic leukoencephalopathy with subcortical cysts].
Wang JM; Jiang YW; Wu XR
Sheng Li Ke Xue Jin Zhan; 2010 Feb; 41(1):69-71. PubMed ID: 21417022
[No Abstract] [Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. [Identification of a novel MLC1 mutation in a Chinese patient affected with megalencephalic leukoencephalopathy with subcortical cysts].
Chen X; Qu H; Yu T; Luo R
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Jun; 33(3):316-9. PubMed ID: 27264811
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
