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Results 1 - 10 of 36 for Leukoencephalopathy with vanishing white matter 4
  1. CLCN2-related leukoencephalopathy 
    ... Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations. Eur Neurol. 2017;78(3-4):125-127. doi: 10.1159/000478089. Epub 2017 ...
    https://medlineplus.gov/.../clcn2-related-leukoencephalopathy - Genetics
  2. RNAse T2-deficient leukoencephalopathy 
    ... Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016. ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  3. RNASET2 gene 
    ... Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016. ...
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  4. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... Knaap MS. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
  5. DARS2 gene 
    ... Knaap MS. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/dars2 - Genetics
  6. HEPACAM gene 
    ... van der Knaap MS. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet. 2011 Apr 8;88(4):422-32. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/hepacam - Genetics
  7. EIF2B4 gene 
    ... stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter. More About This Health Condition DKFZp586J0119 EI2BD_HUMAN EIF-2B EIF2B EIF2Bdelta eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD) eukaryotic translation initiation factor 2B, subunit ...
    https://medlineplus.gov/genetics/gene/eif2b4 - Genetics
  8. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 
    ... identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4. Citation on PubMed Nicholson AM, Baker MC, Finch ...
    https://medlineplus.gov/...-with-axonal-spheroids-and-pigmented-glia - Genetics
  9. CSF1R gene 
    ... identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4. Citation on PubMed Rademakers R, Baker M, Nicholson ...
    https://medlineplus.gov/genetics/gene/csf1r - Genetics
  10. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... Prokisch H, van der Knaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4. Citation on PubMed Taskin BD, Karalok ZS, Gurkas ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
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