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Items: 1 to 20 of 122

1.

A commentary on Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Boor I.

J Hum Genet. 2011 Mar;56(3):173. doi: 10.1038/jhg.2011.5. Epub 2011 Feb 10. No abstract available.

PMID:
21307857
2.

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Wang J, Shang J, Wu Y, Gu Q, Xiong H, Ding C, Wang L, Gao Z, Wu X, Jiang Y.

J Hum Genet. 2011 Feb;56(2):138-42. doi: 10.1038/jhg.2010.146. Epub 2010 Dec 16.

PMID:
21160490
3.

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. Epub 2002 Feb 8. Erratum in: Hum Genet 2002 Jul;111(1):114.

PMID:
11935341
4.

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. Review.

PMID:
12973664
5.
6.

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.

PMID:
12850517
7.

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. Epub 2002 Jul 16.

PMID:
12189496
8.

Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.

Xie H, Wang J, Dhaunchak AS, Shang J, Kou L, Guo M, Wu Y, Gu Q, Colman D, Wu X, Jiang Y.

PLoS One. 2012;7(3):e33087. doi: 10.1371/journal.pone.0033087. Epub 2012 Mar 5.

9.

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.

PMID:
12497630
10.

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 Mar-Apr;52(2):179-83.

11.

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 15;20(16):3266-77. doi: 10.1093/hmg/ddr238. Epub 2011 May 30.

12.

[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. Chinese.

13.

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. doi: 10.1002/ana.21980.

PMID:
20517947
14.

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.

PMID:
16652334
15.

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. Epub 2001 Mar 6.

16.
17.

Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.

Bettecken T, Rubie C, Lichtner P, Siekiera M, Meitinger T, Stöber G.

Mol Cell Probes. 2002 Oct;16(5):379-84.

PMID:
12477442
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. doi: 10.1016/j.mcn.2013.07.001. Epub 2013 Jul 10.

PMID:
23851226
19.

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 15;21(10):2166-80. doi: 10.1093/hmg/dds032. Epub 2012 Feb 9.

20.

Megalencephalic leukoencephalopathy with subcortical cysts.

Singhal BS, Gorospe JR, Naidu S.

J Child Neurol. 2003 Sep;18(9):646-52. Review.

PMID:
14572144
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