Stephen J Kolb

Summary

Affiliation: The Ohio State University
Country: USA

Publications

  1. ncbi Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia
    Stephen J Kolb
    Department of Neurology, The Ohio State University Medical Center, Columbus, OH 43210, USA
    J Clin Neuromuscul Dis 10:22-3. 2008
  2. ncbi Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach
    S J Kolb
    Department of Neurology, The Ohio State University Medical Center, Hamilton Hall, Room 337B, 1645 Neil Ave, Columbus, OH 43210 1228, USA
    Neurology 74:502-6. 2010
  3. ncbi An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy
    Bakri Elsheikh
    Department of Neurology, Ohio State University, 421 Means Hall, 1654 Upham Drive, Columbus, Ohio 43210, USA
    Muscle Nerve 40:652-6. 2009
  4. ncbi Spinal muscular atrophy: a timely review
    Stephen J Kolb
    Department of Neurology, Ohio State University, Columbus, 43210, USA
    Arch Neurol 68:979-84. 2011

Detail Information

Publications4

  1. ncbi Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia
    Stephen J Kolb
    Department of Neurology, The Ohio State University Medical Center, Columbus, OH 43210, USA
    J Clin Neuromuscul Dis 10:22-3. 2008
    ..The coincidence of two trinucleotide repeat expansions in this patient may suggest an underlying error in DNA metabolism...
  2. ncbi Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach
    S J Kolb
    Department of Neurology, The Ohio State University Medical Center, Hamilton Hall, Room 337B, 1645 Neil Ave, Columbus, OH 43210 1228, USA
    Neurology 74:502-6. 2010
    ..We initiated a candidate gene approach to study the genetic influence of the small heat shock protein (sHSP) gene family on an axonal motor and motor/sensory neuropathy patient population...
  3. ncbi An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy
    Bakri Elsheikh
    Department of Neurology, Ohio State University, 421 Means Hall, 1654 Upham Drive, Columbus, Ohio 43210, USA
    Muscle Nerve 40:652-6. 2009
    ..There was, however, no difference between the groups in quantitative muscle strength or pulmonary function testing. Functional scale may be a more discriminating outcome measure for SMA clinical trials...
  4. ncbi Spinal muscular atrophy: a timely review
    Stephen J Kolb
    Department of Neurology, Ohio State University, Columbus, 43210, USA
    Arch Neurol 68:979-84. 2011
    ..This review will take a historical perspective to highlight important milestones on the road to developing effective therapies for SMA...