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Results 1 - 10 of 97 for Optic atrophy 6
  1. ... derived mesenchymal stem cell implantation in patients with optic atrophy. Eur J Ophthalmol . 2021;31(6):3463-3470. PMID: 33307808 pubmed.ncbi.nlm.nih. ...
  2. ... gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. ...
  3. ... methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. doi: 10.1086/324651. Epub 2001 ...
  4. Macular Degeneration/Treatments and Therapies ... Macular Degeneration ... National Eye Institute ... From the National Institutes of Health ... The Age-Related Eye Disease ...
  5. ... methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24. doi: 10.1086/324651. Epub 2001 ...
  6. ... isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. J Neurol Sci. 2015 Apr 15;351(1-2):99-108. doi: 10.1016/j.jns.2015.02.047. Epub 2015 Mar 6. Citation on PubMed Schimpf S, Fuhrmann N, Schaich ...
  7. ... symptom of Wolfram syndrome, usually diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, usually ...
  8. ... isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. J Neurol Sci. 2015 Apr 15;351(1-2):99-108. doi: 10.1016/j.jns.2015.02.047. Epub 2015 Mar 6. Citation on PubMed Roubertie A, Leboucq N, Picot ...
  9. ... intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration ... combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type ...
  10. ... to their children. Hereditary optic neuroretinopathy Leber hereditary optic atrophy Leber optic atrophy Leber's hereditary optic neuropathy Leber's optic ...
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