Literature DB >> 25796299

Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain.

Teruaki Masuda1, Mitsuharu Ueda2, Hidetsugu Ueyama3, Shino Shimada4, Masatoshi Ishizaki3, Shigehiro Imamura3, Toshiyuki Yamamoto4, Yukio Ando5.   

Abstract

Entities:  

Keywords:  Astrocytes; MLC1 mutation; MRI; Megalencephalic leukoencephalopathy; Subcortical cysts; Van der Knaap disease

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Year:  2015        PMID： 25796299     DOI： 10.1016/j.jns.2015.03.010

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  2 in total

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

Authors:  Prafulla Kumar Dash; Dinesh Harvey Raj; Hrushikesh Sahu
Journal:  BMJ Case Rep       Date:  2015-09-21

2.  Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Authors:  Ghada M H Abdel-Salam; Mohamed S Abdel-Hamid; Samira I Ismail; Heba Hosny; Tarek Omar; Laila Effat; Mona S Aglan; Samia A Temtamy; Maha S Zaki
Journal:  Metab Brain Dis       Date:  2016-07-07       Impact factor: 3.584
  2 in total

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