Richard T Moxley

Summary

Affiliation: University of Rochester
Country: USA

Publications

  1. doi request reprint Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management
    Richard T Moxley
    Department of Neurology, University of Rochester, Rochester, NY 14642, USA
    J Child Neurol 25:1116-29. 2010
  2. doi request reprint Evoked myotonia can be "dialed-up" by increasing stimulus train length in myotonic dystrophy type 1
    Eric L Logigian
    Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York, USA
    Muscle Nerve 41:191-6. 2010
  3. doi request reprint Diagnostic odyssey of patients with myotonic dystrophy
    James E Hilbert
    Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA
    J Neurol 260:2497-504. 2013
  4. pmc If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)
    James E Hilbert
    Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA
    Contemp Clin Trials 33:302-11. 2012
  5. pmc Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel
    Zhen Zhi Tang
    Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA
    Hum Mol Genet 21:1312-24. 2012
  6. ncbi request reprint Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1)
    Richard T Moxley
    Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York 14642, USA
    Muscle Nerve 36:320-8. 2007
  7. doi request reprint Splicing biomarkers of disease severity in myotonic dystrophy
    Masayuki Nakamori
    Department of Neurology, University of Rochester Medical Center, Rochester, NY Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY
    Ann Neurol 74:862-72. 2013
  8. pmc Open-label trial of recombinant human insulin-like growth factor 1/recombinant human insulin-like growth factor binding protein 3 in myotonic dystrophy type 1
    Chad R Heatwole
    University of Rochester Medical Center, Rochester, NY 14642, USA
    Arch Neurol 68:37-44. 2011
  9. ncbi request reprint Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands
    Richard T Moxley
    Department of Neurology, University of Rochester, Box 673, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Neuromuscul Disord 12:306-17. 2002
  10. ncbi request reprint Laboratory abnormalities in ambulatory patients with myotonic dystrophy type 1
    Chad R Heatwole
    Neuromuscular Disease Center, Strong Memorial Hospital, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Arch Neurol 63:1149-53. 2006

Research Grants

Collaborators

Detail Information

Publications20

  1. doi request reprint Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management
    Richard T Moxley
    Department of Neurology, University of Rochester, Rochester, NY 14642, USA
    J Child Neurol 25:1116-29. 2010
    ..Educational, vocational, and other social counseling is now a vital part of management for Duchenne muscular dystrophy...
  2. doi request reprint Evoked myotonia can be "dialed-up" by increasing stimulus train length in myotonic dystrophy type 1
    Eric L Logigian
    Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York, USA
    Muscle Nerve 41:191-6. 2010
    ..Evoked myotonia testing utilizing a stimulus paradigm of at least 20 stimuli at 30-50 HZ may be useful in antimyotonic drug trials, particularly when grip RT is normal or equivocal...
  3. doi request reprint Diagnostic odyssey of patients with myotonic dystrophy
    James E Hilbert
    Department of Neurology, University of Rochester Medical Center, 601 Elmwood Ave, Box 673, Rochester, NY, 14642, USA
    J Neurol 260:2497-504. 2013
    ..Further evaluation of how to shorten these diagnostic delays and limit their impact on burdens of disease, family planning, and symptom management is needed...
  4. pmc If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)
    James E Hilbert
    Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA
    Contemp Clin Trials 33:302-11. 2012
    ..We also highlight data about the pathophysiology and select burdens of DM and FSHD reported at baseline and longitudinally...
  5. pmc Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel
    Zhen Zhi Tang
    Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA
    Hum Mol Genet 21:1312-24. 2012
    ..Together, these results indicate that DM-associated splicing defects alter Ca(V)1.1 function, with potential for exacerbation of myopathy...
  6. ncbi request reprint Computerized hand grip myometry reliably measures myotonia and muscle strength in myotonic dystrophy (DM1)
    Richard T Moxley
    Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York 14642, USA
    Muscle Nerve 36:320-8. 2007
    ..We conclude that computerized handgrip myometry provides a sensitive, reliable measure of myotonia and strength in DM1 and offers a method to assess natural history and response to treatment...
  7. doi request reprint Splicing biomarkers of disease severity in myotonic dystrophy
    Masayuki Nakamori
    Department of Neurology, University of Rochester Medical Center, Rochester, NY Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY
    Ann Neurol 74:862-72. 2013
    ..To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2)...
  8. pmc Open-label trial of recombinant human insulin-like growth factor 1/recombinant human insulin-like growth factor binding protein 3 in myotonic dystrophy type 1
    Chad R Heatwole
    University of Rochester Medical Center, Rochester, NY 14642, USA
    Arch Neurol 68:37-44. 2011
    ..To evaluate the safety and tolerability of recombinant human insulin-like growth factor 1 (rhIGF-1) complexed with IGF binding protein 3 (rhIGF-1/rhIGFBP-3) in patients with myotonic dystrophy type 1 (DM1)...
  9. ncbi request reprint Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands
    Richard T Moxley
    Department of Neurology, University of Rochester, Box 673, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Neuromuscul Disord 12:306-17. 2002
  10. ncbi request reprint Laboratory abnormalities in ambulatory patients with myotonic dystrophy type 1
    Chad R Heatwole
    Neuromuscular Disease Center, Strong Memorial Hospital, University of Rochester, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Arch Neurol 63:1149-53. 2006
    ..Myotonic dystrophy type 1 (DM1) is the most prevalent form of adult muscular dystrophy worldwide. Although well known for the classic manifestations of myotonia, weakness, and early cataracts, it has broad effects on multiple organ systems...
  11. doi request reprint Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
    Emma Ciafaloni
    Department of Neurology, University of Rochester, Rochester, NY, USA
    J Pediatr 155:380-5. 2009
    ..To identify key factors for the delay in diagnosis of Duchenne muscular dystrophy (DMD) without known family history...
  12. pmc Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2
    Masayuki Nakamori
    Department of Neurology, Box 673, University of Rochester Medical Center, Rochester, NY 14642, USA
    Neuromuscul Disord 19:759-62. 2009
    ..These methods can facilitate genetic analysis in cells and tissues obtained from individuals with myotonic dystrophy...
  13. ncbi request reprint Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy
    Eric L Logigian
    Neuromuscular Division, Department of Neurology, Box 673, 601 Elmwood Avenue, University of Rochester Medical Center, Rochester, New York 14642, USA
    Muscle Nerve 35:479-85. 2007
    ..It tends to be waxing-waning in DM1 but waning in DM2, thus making electrodiagnosis of DM2 more challenging. Its severity correlates with muscle weakness and the presence of waxing-waning discharges in DM1 but not DM2...
  14. ncbi request reprint The nondystrophic myotonias
    Chad R Heatwole
    Department of Neurology, University of Rochester, Rochester, New York, USA
    Neurotherapeutics 4:238-51. 2007
    ....
  15. ncbi request reprint Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
    Ami Mankodi
    Department of Neurology, School of Medicine and Dentistry, University of Rochester, Box 673, 601 Elmwood Avenue, New York 14642, USA
    Mol Cell 10:35-44. 2002
    ..We propose that a transdominant effect of mutant RNA on RNA processing leads to chloride channelopathy and membrane hyperexcitability in DM...
  16. ncbi request reprint Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
    Xiaoyan Lin
    Department of Neuroscience, University of Rochester Medical Center, Rochester, NY 14642, USA
    Hum Mol Genet 15:2087-97. 2006
    ..Sequestration of MBNL1, and failure to maintain these splicing transitions, has a pivotal role in the pathogenesis of muscle disease in DM...
  17. ncbi request reprint Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
    Hong Jiang
    Department of Neurology, University of Rochester School of Medicine and Dentistry, PO Box 673, 601 Elmwood Avenue, Rochester, NY 14642, USA
    Hum Mol Genet 13:3079-88. 2004
    ..In parallel, a subset of neuronal pre-mRNAs show abnormal regulation of alternative splicing. These observations suggest that CNS impairment in DM1 may result from a deleterious gain-of-function by mutant DMPK mRNA...
  18. ncbi request reprint Myotonic dystrophy type 2 and related myotonic disorders
    Giovanni Meola
    Department of Neurology, University of Milan, Istituto Policlinico San Donato, Via Morandi 30, 20097 San Donato Milanese, Milan, Italy
    J Neurol 251:1173-82. 2004
    ....
  19. pmc Towards an integrative approach to the management of myotonic dystrophy type 1
    Cynthia Gagnon
    Neuromuscular Clinic, Centre de réadaptation en déficience physique de Jonquière, Jonquière, Quebec, Canada
    J Neurol Neurosurg Psychiatry 78:800-6. 2007
  20. pmc Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
    Linda L Bachinski
    Section of Cancer Genetics, Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Am J Hum Genet 73:835-48. 2003
    ..Taken together, these data suggest a single founding mutation in DM2 patients of European origin. We estimate the age of the founding haplotype and of the DM2 (CCTG) expansion mutation to be approximately 200-540 generations...

Research Grants3

  1. Muscular Dystrophy Cooperative Research Center
    RICHARD MOXLEY; Fiscal Year: 2007
    ..Projects 1, 2, & 3 interact with the Repository Core and this Core will interact with the other MDCRCs. ..
  2. Sixth International Myotonic Dystrophy Consortium Meeting
    RICHARD MOXLEY; Fiscal Year: 2007
    ....