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Items: 1 to 20 of 233

1.

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
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 23;62(6):878-82.

PMID:
15037685
3.

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.

4.

Novel mutations of the MLC1 gene in Turkish patients.

Yüzbaşioğlu A, Topçu M, Cetin Kocaefe Y, Ozgüç M.

Eur J Med Genet. 2011 May-Jun;54(3):281-3. doi: 10.1016/j.ejmg.2010.11.014. Epub 2010 Dec 9.

PMID:
21145992
5.

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.

PMID:
20560255
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.

Hari Krishnan K, Leema Pauline C, Kumaresan G, Vasantha Mallika TK.

Indian Pediatr. 2005 Jan;42(1):60-3.

8.

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.

Duarri A, Teijido O, López-Hernández T, Scheper GC, Barriere H, Boor I, Aguado F, Zorzano A, Palacín M, Martínez A, Lukacs GL, van der Knaap MS, Nunes V, Estévez R.

Hum Mol Genet. 2008 Dec 1;17(23):3728-39. doi: 10.1093/hmg/ddn269. Epub 2008 Aug 30.

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.

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
11.

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
12.

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.

PMID:
21624973
13.

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
14.

[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. doi: 10.3760/cma.j.issn.1003-9406.2011.06.004. Chinese.

PMID:
22161090
15.

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. doi: 10.1016/j.ejmg.2014.12.004. Epub 2014 Dec 11.

PMID:
25497041
16.

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
17.

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.

18.

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. doi: 10.1016/j.pediatrneurol.2013.10.008. Epub 2013 Oct 24.

PMID:
24315536
19.

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
20.

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. Epub 2012 Mar 1.

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