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Results 1 - 10 of 20 for Leukoencephalopathy with vanishing white matter 2
  1. HEPACAM gene 
    ... E, Estevez R. Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. Neurogenetics. 2014 Mar;15( ...
    https://medlineplus.gov/genetics/gene/hepacam - Genetics
  2. CSF1R gene 
    ... factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027. Citation ...
    https://medlineplus.gov/genetics/gene/csf1r - Genetics
  3. DARS2 gene 
    ... Vles JS, Rieckmann P, Pouwels PJ. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Citation ...
    https://medlineplus.gov/genetics/gene/dars2 - Genetics
  4. CLCN2 gene 
    ... the other signs and symptoms of CLCN2-related leukoencephalopathy. More About This Health Condition MedlinePlus Genetics provides information about Juvenile myoclonic epilepsy More About This Health Condition chloride channel 2 chloride channel, voltage-sensitive 2 CIC-2 clC- ...
    https://medlineplus.gov/genetics/gene/clcn2 - Genetics
  5. HTRA1 gene 
    ... Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification. J Stroke Cerebrovasc Dis. 2011 Mar-Apr;20(2):85-93. doi: 10.1016/j.jstrokecerebrovasdis.2010. ...
    https://medlineplus.gov/genetics/gene/htra1 - Genetics
  6. TUBB4A gene 
    ... the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  7. TREM2 gene 
    The TREM2 gene provides instructions for making a protein called triggering receptor expressed on myeloid cells 2 (TREM2). As its name suggests, this protein ...
    https://medlineplus.gov/genetics/gene/trem2 - Genetics
  8. EIF2B2 gene 
    ... stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter. More About This Health Condition EI2BB_HUMAN EIF-2Bbeta EIF2B eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD) eukaryotic translation initiation factor 2B, subunit ...
    https://medlineplus.gov/genetics/gene/eif2b2 - Genetics
  9. EARS2 gene 
    ... MSE1 Tests of EARS2 ... Zeviani M, Bruno C. Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate ( ...
    https://medlineplus.gov/genetics/gene/ears2 - Genetics
  10. DARS1 gene 
    ... leg spasticity. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: ... can mimic a steroid-responsive neuroinflammatory disorder. Neurology. ...
    https://medlineplus.gov/genetics/gene/dars1 - Genetics
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