Detalhe da pesquisa
1.
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Nat Genet
; 39(4): 534-9, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17384640
2.
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
Hum Mutat
; 27(6): 505-12, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16652334
3.
Vanishing white matter disease.
Lancet Neurol
; 5(5): 413-23, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16632312
4.
MLC1: a novel protein in distal astroglial processes.
J Neuropathol Exp Neurol
; 64(5): 412-9, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15892299
5.
Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.
J Child Neurol
; 18(9): 639-45, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-14572143
6.
MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
Acta Neuropathol
; 114(4): 403-10, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17628813
7.
Vanishing white matter disease: a review with focus on its genetics.
Ment Retard Dev Disabil Res Rev
; 12(2): 123-8, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16807905
8.
Regulation of protein synthesis in lymphoblasts from vanishing white matter patients.
Neurobiol Dis
; 21(3): 496-504, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16185887
9.
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
Ann Neurol
; 51(2): 264-70, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11835386
10.
eIF2B-related disorders: antenatal onset and involvement of multiple organs.
Am J Hum Genet
; 73(5): 1199-207, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14566705