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Items: 1 to 20 of 252

1.

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
2.

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.

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.

[Megalencephalic leucoencephalopathy with subcortical cysts: a study of a Lebanese family and a review of the literature].

Koussa S, Roukoz H, Rizk T, Mégarbané A.

Rev Neurol (Paris). 2005 Feb;161(2):183-91. French.

PMID:
15798517
5.

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
6.

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
7.

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 8;88(4):422-32. doi: 10.1016/j.ajhg.2011.02.009. Epub 2011 Mar 17.

8.

Megalencephalic leukoencephalopathy with subcortical cysts.

Singhal BS, Gorospe JR, Naidu S.

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

PMID:
14572144
9.

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
10.

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
11.

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.

PMID:
21487377
12.

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.

13.

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
14.

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
15.

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.

Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A.

Neurogenetics. 2012 Aug;13(3):205-14. doi: 10.1007/s10048-012-0331-z. Epub 2012 May 3.

PMID:
22552818
16.

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.

Neurology. 2003 Aug 26;61(4):534-7.

PMID:
12939431
17.

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis.

van der Knaap MS, Boor I, Estévez R.

Lancet Neurol. 2012 Nov;11(11):973-85. doi: 10.1016/S1474-4422(12)70192-8. Review.

PMID:
23079554
18.

[Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases].

Jerbi Omezzine S, Ben Ameur H, Bousoffara R, Ayedi A, Hamza HA, Sfar MT.

J Radiol. 2008 Jul-Aug;89(7-8 Pt 1):891-4. Review. French.

19.

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.

J Hum Genet. 2003;48(12):605-8. Epub 2003 Nov 13.

PMID:
14615938
20.

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
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