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Items: 1 to 20 of 184

1.

Leukoencephalopathies associated with macrocephaly.

Renaud DL.

Semin Neurol. 2012 Feb;32(1):34-41. doi: 10.1055/s-0032-1306384. Review.

PMID:
22422204
2.

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
3.
4.

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.

5.

Macrocephaly in an 8-month-old infant.

Ramakers K, Siemons W, Meylaerts L.

JBR-BTR. 2013 Nov-Dec;96(6):392. No abstract available.

PMID:
24617190
6.

Megalencephalic leukoencephalopathy with subcortical cysts.

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

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

7.

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
8.

Inherited leukoencephalopathies.

Renaud DL.

Semin Neurol. 2012 Feb;32(1):3-8. doi: 10.1055/s-0032-1306380. No abstract available.

PMID:
22422201
9.

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.

PMID:
23851226
10.

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.

PMID:
24315536
11.

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
12.

Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration.

Dash PK, Raj DH, Sahu H.

BMJ Case Rep. 2015 Sep 21;2015. pii: bcr2015211921. doi: 10.1136/bcr-2015-211921.

PMID:
26392452
13.

Vanishing white matter disease associated with progressive macrocephaly.

Pineda M, R-Palmero A, Baquero M, O'Callaghan M, Aracil A, van der Knaap M, Scheper GC.

Neuropediatrics. 2008 Feb;39(1):29-32. doi: 10.1055/s-2008-1076738.

PMID:
18504679
14.

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.

PMID:
22552818
15.

Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients.

Ben-Zeev B, Gross V, Kushnir T, Shalev R, Hoffman C, Shinar Y, Pras E, Brand N.

J Child Neurol. 2001 Feb;16(2):93-9.

PMID:
11292232
16.

Twelve-year monitoring of a patient with megalencephalic leukoencephalopathy with subcortical cysts.

Rossi F, Battaglini M, Stromillo ML, Giorgio A, Federico A, De Stefano N.

Neurol Sci. 2014 Aug;35(8):1249-53. doi: 10.1007/s10072-014-1691-y.

PMID:
24584635
17.

Megalencephalic leukoencephalopathy with subcortical cysts.

Singhal BS, Gorospe JR, Naidu S.

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

PMID:
14572144
18.

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
19.
20.

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.

Kohlschütter A, Bley A, Brockmann K, Gärtner J, Krägeloh-Mann I, Rolfs A, Schöls L.

Brain Dev. 2010 Feb;32(2):82-9. doi: 10.1016/j.braindev.2009.03.014. Review.

PMID:
19427149
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