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1 - 10 of 18 results found for GNE.

  1. GNE myopathy-Disease Monitoring Programme (GNE-DMP): A registry and...

    GNE myopathy-Disease Monitoring Programme (GNE-DMP): A registry and prospective observational natural history study to assess HIBM disease. ... USA) and Newcastle University (UK). Primary objective. Tto improve knowledge and treatment development of GNE

    https://www.ucl.ac.uk/centre-for-neuromuscular-diseases/research/experimental-clinical-trials/muscle
    /muscle-open-trials/gne-myopathy-disease-monitoring

  2. sialic-acid-gne-myopathy-gnem-and-hereditary-inclusion-body-myopathy-h...

    sialic-acid-gne-myopathy-gnem-and-hereditary-inclusion-body-myopathy-hibm. A Phase III Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended Release ... SA-ER) Tablets in Patients with GNE Myopathy

    https://www.ucl.ac.uk/centre-for-neuromuscular-diseases
    /sialic-acid-gne-myopathy-gnem-and-hereditary-inclusion-body-myopathy-hibm

  3. Myofibrillar myopathies (MFM), valosin containing protein (VCP) and glucosamine...

    http://iris.ucl.ac.uk/iris/publication/408135/11

  4. Open Trials | Queen Square Centre for Neuromuscular Diseases - UCL –...

    Open Trials. Clinical Trial of Investigational Medicinal Products (CTIMP)  . Cohorts. Other studies.

    https://www.ucl.ac.uk/centre-for-neuromuscular-diseases/research/experimental-clinical-trials/muscle
    /open-trials

  5. N-Acetylmannosamine treatment rescues GNE knock-in mice from severe neonatal glomerular...

    http://iris.ucl.ac.uk/iris/publication/434901/11

  6. National Institute of Mental Health and Neurosciences (NIMHANs),...

    National Institute of Mental Health and Neurosciences (NIMHANs), Bangalore. The ICGNMD is fortunate to have two separate collaborations with NIMHANs, a government-funded, multi-disciplinary clinical-academic institute specialising in mental health

    https://www.ucl.ac.uk/genomic-medicine-neuromuscular-diseases/partner-institutions/india
    /national-institute-mental-health-and-neurosciences-nimhans-bangalore

  7. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

    GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-epimerase/. N-acetyl mannosamine kinase. We studied 50 Bulgarian Roma

    http://iris.ucl.ac.uk/iris/publication/1044837/7

  8. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

    GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP- N-acetylglucosamine 2-epimerase/. N-acetyl mannosamine kinase. We studied 50 Bulgarian Roma

    http://iris.ucl.ac.uk/iris/publication/1049864/7

  9. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular...

    Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular

    http://iris.ucl.ac.uk/iris/publication/431907/2

  10. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and...

    Hereditary inclusion body myopathy (HIBM) is an autosomal recessive neuromuscular disorder associated with mutations in uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase (GNE)/N-acetylmannosamine (ManNAc) kinase (MNK), the

    http://iris.ucl.ac.uk/iris/publication/431908/2

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