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Filtering by: Subject GNE Remove constraint Subject: GNE

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  • 2z10wt84k?file=thumbnail
    Thesis
    Thomas, Daniel Franklin
    Hereditary Inclusion Body Myopathy (HIBM) is a homozygous recessive disorder characterized by the M712T mutation. Humans who inherit this disorder develop skeletal muscle wasting, which is largely attributed to a sialic acid deficiency. In order to de . . .
  • 7m01bp463?file=thumbnail
    Thesis
    Rajaei, Atefeh
    Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive disorder characterized by adult onset muscle-wasting, affecting both proximal and distal muscles. HIBM is caused by different mutations in the GNE gene including the common Middle Eas . . .
  • Work
    Thesis
    Thomas, Daniel Franklin
    Hereditary Inclusion Body Myopathy (HIBM) is a homozygous recessive disorder characterized by the M712T mutation. Humans who inherit this disorder develop skeletal muscle wasting, which is largely attributed to a sialic acid deficiency. In order to de . . .