Nicholas E Johnson

Summary

Affiliation: University of Rochester
Country: USA

Publications

  1. doi request reprint The impact of congenital and childhood myotonic dystrophy on quality of life: a qualitative study of associated symptoms
    Nicholas E Johnson
    Department of Neurology, The University of Rochester, Rochester, NY, USA
    J Child Neurol 29:983-6. 2014
  2. pmc Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A
    Nicholas E Johnson
    Department of Neurology, University of Rochester Medical Center, Rochester, NY 44642, USA
    J Clin Neuromuscul Dis 15:19-23. 2013
  3. doi request reprint Myotonic dystrophy: from bench to bedside
    Nicholas E Johnson
    Department of Neurology, University of Rochester, Rochester, New York 14642, USA
    Semin Neurol 32:246-54. 2012
  4. pmc Education research: neurology training reassessed. The 2011 American Academy of Neurology Resident Survey results
    Nicholas E Johnson
    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
    Neurology 79:1831-4. 2012
  5. pmc Patient-identified disease burden in facioscapulohumeral muscular dystrophy
    Nicholas E Johnson
    Department of Neurology, University of Rochester, 601 Elmwood Avenue, P O Box 673, Rochester, New York 14642, USA
    Muscle Nerve 46:951-3. 2012
  6. pmc Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy
    Nicholas E Johnson
    Department of Neurology, The University of Utah, Salt Lake City, UT, USA
    Dev Med Child Neurol 58:698-705. 2016
  7. ncbi request reprint What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients
    Michael Hunter
    Department of Neurology, University of Utah School of Medicine, North Medical Drive East, Salt Lake City, UT, USA
    J Neuromuscul Dis 3:425-429. 2016
  8. ncbi request reprint Inclusion Body Myositis: What Most Impacts Patients' Lives
    Cynthia Gibson
    Department of Neurology, University of Rochester, Rochester, NY and Department of Neurology, University of Utah, Salt Lake City, UT
    J Clin Neuromuscul Dis 18:67-71. 2016
  9. pmc Myotonic dystrophy health index: Correlations with clinical tests and patient function
    Chad Heatwole
    The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA
    Muscle Nerve 53:183-90. 2016
  10. pmc The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study
    Nicholas E Johnson
    Department of Neurology, The University of Utah, UT, USA
    J Neuromuscul Dis 2:447-452. 2015

Detail Information

Publications10

  1. doi request reprint The impact of congenital and childhood myotonic dystrophy on quality of life: a qualitative study of associated symptoms
    Nicholas E Johnson
    Department of Neurology, The University of Rochester, Rochester, NY, USA
    J Child Neurol 29:983-6. 2014
    ..These interviews identified multiple themes and symptoms, some previously under-recognized, which play a key role in the disease burden associated with congenital and childhood myotonic dystrophy. ..
  2. pmc Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A
    Nicholas E Johnson
    Department of Neurology, University of Rochester Medical Center, Rochester, NY 44642, USA
    J Clin Neuromuscul Dis 15:19-23. 2013
    ..This study aims to qualitatively describe the range of symptoms associated with CMT1A and impact on QOL...
  3. doi request reprint Myotonic dystrophy: from bench to bedside
    Nicholas E Johnson
    Department of Neurology, University of Rochester, Rochester, New York 14642, USA
    Semin Neurol 32:246-54. 2012
    ..The authors review the pathogenesis, clinical features, diagnostic tests, and standard management of DM1 and DM2 and outline promising clinical research for patients with these disorders...
  4. pmc Education research: neurology training reassessed. The 2011 American Academy of Neurology Resident Survey results
    Nicholas E Johnson
    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
    Neurology 79:1831-4. 2012
    ..To assess the strengths and weaknesses of neurology resident education using survey methodology...
  5. pmc Patient-identified disease burden in facioscapulohumeral muscular dystrophy
    Nicholas E Johnson
    Department of Neurology, University of Rochester, 601 Elmwood Avenue, P O Box 673, Rochester, New York 14642, USA
    Muscle Nerve 46:951-3. 2012
    ..The multitude of symptoms associated with facioscapulohumeral muscular dystrophy (FSHD) disease burden are of varying importance. The extent of these symptoms and their cumulative effect on the FSHD population is unknown...
  6. pmc Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy
    Nicholas E Johnson
    Department of Neurology, The University of Utah, Salt Lake City, UT, USA
    Dev Med Child Neurol 58:698-705. 2016
    ..This report identifies symptomatic areas with the greatest disease burden in an international population of patients with early-onset myotonic dystrophy type-1 (DM1)...
  7. ncbi request reprint What Matters Most: A Perspective From Adult Spinal Muscular Atrophy Patients
    Michael Hunter
    Department of Neurology, University of Utah School of Medicine, North Medical Drive East, Salt Lake City, UT, USA
    J Neuromuscul Dis 3:425-429. 2016
    ..Symptoms were grouped by like topics into fourteen symptomatic themes. The symptoms and issues identified by SMA patients alter their physical, mental, and social health and may be amendable to therapeutic intervention...
  8. ncbi request reprint Inclusion Body Myositis: What Most Impacts Patients' Lives
    Cynthia Gibson
    Department of Neurology, University of Rochester, Rochester, NY and Department of Neurology, University of Utah, Salt Lake City, UT
    J Clin Neuromuscul Dis 18:67-71. 2016
    ..Few studies have focused on the functional, physical, and social limitations of this disease. This study identifies pertinent symptoms that impact the health and daily function of patients with IBM...
  9. pmc Myotonic dystrophy health index: Correlations with clinical tests and patient function
    Chad Heatwole
    The University of Rochester Medical Center, Department of Neurology, 601 Elmwood Avenue, Box 673, Rochester, New York, 14642, USA
    Muscle Nerve 53:183-90. 2016
    ..Here, we examine the associations between the MDHI and other measures of disease burden in a cohort of individuals with myotonic dystrophy type-1 (DM1)...
  10. pmc The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study
    Nicholas E Johnson
    Department of Neurology, The University of Utah, UT, USA
    J Neuromuscul Dis 2:447-452. 2015
    ..The rate of symptom progression during pregnancy in myotonic dystrophy (DM) is not currently known. Further, there is little data regarding the rate of pregnancy complications and neonatal outcomes in DM...