PubMed (OMIM) for id: 1826136

Year	Number of Results
1994	1
1995	1
1996	2
1998	1
2000	2
2001	1
2002	3
2003	3
2024	0

1

A common mutation and a novel mutation in Japanese patients with van der Knaap disease.

Tsujino S, Kanazawa N, Yoneyama H, Shimono M, Kawakami A, Hatanaka Y, Shimizu T, Oba H. Tsujino S, et al. J Hum Genet. 2003;48(12):605-608. doi: 10.1007/s10038-003-0085-4. Epub 2003 Nov 13. J Hum Genet. 2003. PMID: 14615938

2

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli FM, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E. Patrono C, et al. Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca. Neurology. 2003. PMID: 12939431

3

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. Rubie C, et al. Hum Mutat. 2003 Jan;21(1):45-52. doi: 10.1002/humu.10145. Hum Mutat. 2003. PMID: 12497630

4

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. Ben-Zeev B, et al. Hum Genet. 2002 Aug;111(2):214-8. doi: 10.1007/s00439-002-0770-y. Epub 2002 Jul 16. Hum Genet. 2002. PMID: 12189496

5

A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia.

McQuillin A, Kalsi G, Moorey H, Lamb G, Mayet S, Quested D, Baker P, Curtis D, Gurling HM. McQuillin A, et al. Eur J Hum Genet. 2002 Aug;10(8):491-4. doi: 10.1038/sj.ejhg.5200837. Eur J Hum Genet. 2002. PMID: 12111645

6

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. Leegwater PA, et al. Hum Genet. 2002 Mar;110(3):279-83. doi: 10.1007/s00439-002-0682-x. Epub 2002 Feb 8. Hum Genet. 2002. PMID: 11935341

7

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. Leegwater PA, et al. Am J Hum Genet. 2001 Apr;68(4):831-8. doi: 10.1086/319519. Epub 2001 Mar 6. Am J Hum Genet. 2001. PMID: 11254442 Free PMC article.

8

Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15.

Stöber G, Saar K, Rüschendorf F, Meyer J, Nürnberg G, Jatzke S, Franzek E, Reis A, Lesch KP, Wienker TF, Beckmann H. Stöber G, et al. Am J Hum Genet. 2000 Nov;67(5):1201-7. doi: 10.1016/S0002-9297(07)62950-4. Epub 2000 Sep 19. Am J Hum Genet. 2000. PMID: 11001582 Free PMC article.

9

Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel.

Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, Beckmann JS, Ozguc M, Seboun E. Topçu M, et al. Am J Hum Genet. 2000 Feb;66(2):733-9. doi: 10.1086/302758. Am J Hum Genet. 2000. PMID: 10677334 Free PMC article.

10

Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

Topcu M, Saatci I, Topcuoglu MA, Kose G, Kunak B. Topcu M, et al. Brain Dev. 1998 Apr;20(3):142-53. doi: 10.1016/s0387-7604(98)00002-3. Brain Dev. 1998. PMID: 9628190

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