Jerry R Mendell

Summary

Affiliation: Nationwide Children's Hospital
Country: USA

Publications

  1. pmc Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer
    William E Grose
    Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America
    PLoS ONE 7:e39233. 2012
  2. pmc Persistent expression of FLAG-tagged micro dystrophin in nonhuman primates following intramuscular and vascular delivery
    Louise R Rodino-Klapac
    Department of Pediatrics, The Ohio State University Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Mol Ther 18:109-17. 2010
  3. ncbi request reprint Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy
    Jerry R Mendell
    Nationwide Children s Hospital, Paul D Wellstone Muscular Dystrophy Cooperative Research Center and Department of Pediatrics, Ohio State University, 700 Childrens Drive, Columbus, Ohio, 43205, USA
    Muscle Nerve 48:21-6. 2013
  4. doi request reprint Evidence-based path to newborn screening for Duchenne muscular dystrophy
    Jerry R Mendell
    Department of Pediatrics, Ohio State University and Nationwide Children s Hospital, Columbus, OH 43205, USA
    Ann Neurol 71:304-13. 2012
  5. ncbi request reprint Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins
    Jerry R Mendell
    Department of Pediatrics, Ohio State University, Columbus, OH, USA
    Ann Neurol 66:290-7. 2009
  6. pmc Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D
    Jerry R Mendell
    Department of Pediatrics, Ohio State University, Columbus, OH, USA
    Ann Neurol 68:629-38. 2010
  7. pmc Molecular therapeutic strategies targeting Duchenne muscular dystrophy
    Jerry R Mendell
    Center for Gene Therapy, Nationwide Children s Hospital, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    J Child Neurol 25:1145-8. 2010
  8. pmc Gene therapy for muscular dystrophy: lessons learned and path forward
    Jerry R Mendell
    Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    Neurosci Lett 527:90-9. 2012
  9. pmc Novel diagnostic features of dysferlinopathies
    Xiomara Q Rosales
    Department of Pediatrics, Neuromuscular Division, Nationwide Children s Hospital, Columbus, Ohio, USA
    Muscle Nerve 42:14-21. 2010
  10. pmc A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy
    Louise R Rodino-Klapac
    Center for Gene Therapy, Columbus Children s Research Institute, Columbus Children s Hospital, 700 Children s Dr, Columbus, Ohio 43205, USA
    J Transl Med 5:45. 2007

Collaborators

Detail Information

Publications52

  1. pmc Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer
    William E Grose
    Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America
    PLoS ONE 7:e39233. 2012
    ..We provide proof of principle that AAV5 mediated delivery of dysferlin is a highly promising strategy for treatment of dysferlinopathies and has far-reaching implications for the therapeutic delivery of other large genes...
  2. pmc Persistent expression of FLAG-tagged micro dystrophin in nonhuman primates following intramuscular and vascular delivery
    Louise R Rodino-Klapac
    Department of Pediatrics, The Ohio State University Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Mol Ther 18:109-17. 2010
    ..In summary, an epitope-tagged micro-dystrophin cassette enhances the ability to evaluate site-specific localization and distribution of gene expression in the NHP in preparation for vascular delivery clinical trials...
  3. ncbi request reprint Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy
    Jerry R Mendell
    Nationwide Children s Hospital, Paul D Wellstone Muscular Dystrophy Cooperative Research Center and Department of Pediatrics, Ohio State University, 700 Childrens Drive, Columbus, Ohio, 43205, USA
    Muscle Nerve 48:21-6. 2013
    ..Conclusions from this symposium with supportive data could have a significant impact on propelling efforts for approval of newborn screening for DMD...
  4. doi request reprint Evidence-based path to newborn screening for Duchenne muscular dystrophy
    Jerry R Mendell
    Department of Pediatrics, Ohio State University and Nationwide Children s Hospital, Columbus, OH 43205, USA
    Ann Neurol 71:304-13. 2012
    ..As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing...
  5. ncbi request reprint Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins
    Jerry R Mendell
    Department of Pediatrics, Ohio State University, Columbus, OH, USA
    Ann Neurol 66:290-7. 2009
    ..Gene replacement represents a strategy for correcting the underlying defect. Questions related to this approach were addressed in this clinical trial, particularly the need for immunotherapy and persistence of gene expression...
  6. pmc Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D
    Jerry R Mendell
    Department of Pediatrics, Ohio State University, Columbus, OH, USA
    Ann Neurol 68:629-38. 2010
    ....
  7. pmc Molecular therapeutic strategies targeting Duchenne muscular dystrophy
    Jerry R Mendell
    Center for Gene Therapy, Nationwide Children s Hospital, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    J Child Neurol 25:1145-8. 2010
    ..The results are modest and encumbered by side effects. The authors review 3 molecular therapeutic approaches that have been introduced into the clinic: (1) gene replacement therapy, (2) mutation suppression, and (3) exon skipping...
  8. pmc Gene therapy for muscular dystrophy: lessons learned and path forward
    Jerry R Mendell
    Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA
    Neurosci Lett 527:90-9. 2012
    ..Increasing the size and strength of the muscle is the goal of this study. Most importantly, no adverse events have been encountered in any of these clinical trials...
  9. pmc Novel diagnostic features of dysferlinopathies
    Xiomara Q Rosales
    Department of Pediatrics, Neuromuscular Division, Nationwide Children s Hospital, Columbus, Ohio, USA
    Muscle Nerve 42:14-21. 2010
    ..Correlative studies showed colocalization of amyloid with deposition of dysferlin. The present data further serve to guide clinicians facing the expensive task of molecular characterization of patients with an LGMD phenotype...
  10. pmc A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy
    Louise R Rodino-Klapac
    Center for Gene Therapy, Columbus Children s Research Institute, Columbus Children s Hospital, 700 Children s Dr, Columbus, Ohio 43205, USA
    J Transl Med 5:45. 2007
    ....
  11. ncbi request reprint Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy
    Vinod Malik
    Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, Ohio State University, Columbus, OH 43205, USA
    Ann Neurol 67:771-80. 2010
    ..Mutation suppression of stop codons, successfully achieved in the mdx mouse using gentamicin, represents an important evolving treatment strategy in Duchenne muscular dystrophy (DMD)...
  12. pmc Overexpression of Galgt2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type mice
    Paul T Martin
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Department of Pediatrics, The Ohio State Univ College of Medicine, 304 Hamilton Hall, 1645 Neil Ave, Columbus, OH 43210 1218, USA
    Am J Physiol Cell Physiol 296:C476-88. 2009
    ..That overexpression also prevents loss of force in nondystrophic muscles suggests that Galgt2 is a therapeutic target with broad potential applications...
  13. pmc Follistatin gene delivery enhances muscle growth and strength in nonhuman primates
    Janaiah Kota
    Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Sci Transl Med 1:6ra15. 2009
    ..Our results, together with the findings in mice, suggest that therapy with AAV1-FS344 may improve muscle mass and function in patients with certain degenerative muscle disorders...
  14. pmc Dystrophin immunity in Duchenne's muscular dystrophy
    Jerry R Mendell
    Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    N Engl J Med 363:1429-37. 2010
    ..Funded by the Muscular Dystrophy Association and others; ClinicalTrials.gov number, NCT00428935.)...
  15. doi request reprint AAV-mediated gene therapy to the isolated limb in rhesus macaques
    Louise R Rodino-Klapac
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, USA
    Methods Mol Biol 709:287-98. 2011
    ..We also provide methods for assessing transduction efficiency of microdystrophin.FLAG following the IFLP vascular delivery protocol...
  16. pmc Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation
    Xiomara Q Rosales
    Neuromuscular Center at The Research Institute at Nationwide Children s Hospital, Columbus, Ohio, USA
    Muscle Nerve 47:731-9. 2013
    ..In normal muscle, up-regulation of miR-1 and miR-206 facilitates transition from proliferating SCs to differentiating myogenic progenitors...
  17. ncbi request reprint Precordial R wave height does not correlate with echocardiographic findings in boys with Duchenne muscular dystrophy
    Philip T Thrush
    The Heart Center, Nationwide Children s Hospital, Columbus, Ohio, USA Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA
    Congenit Heart Dis 8:561-7. 2013
    ..To evaluate this concept, we assessed the correlation between R wave height in lead V1 and echocardiographic findings in boys with Duchenne muscular dystrophy...
  18. pmc Inhibition of myostatin with emphasis on follistatin as a therapy for muscle disease
    Louise R Rodino-Klapac
    Center for Gene Therapy, Research Institute at Nationwide Children s Hospital, 700 Children s Drive, Columbus, Ohio 43205 USA
    Muscle Nerve 39:283-96. 2009
    ..These findings provide the impetus to move toward gene therapy clinical trials with delivery of AAV-FS344 to increase size and function of muscle in patients with neuromuscular disease...
  19. ncbi request reprint Eteplirsen for the treatment of Duchenne muscular dystrophy
    Jerry R Mendell
    Departments of Pediatrics, Ohio State University, Columbus, OH Neurology the Ohio State University, Ohio State University, Columbus, OH Gene Therapy Center, Nationwide Children s Hospital Ohio State University, Columbus, OH Paul D Wellstone Center, Nationwide Children s Hospital Ohio State University, Columbus, OH
    Ann Neurol 74:637-47. 2013
    ..The present study used a double-blind placebo-controlled protocol to test eteplirsen's ability to induce dystrophin production and improve distance walked on the 6-minute walk test (6MWT)...
  20. pmc AAV-mediated overexpression of human α7 integrin leads to histological and functional improvement in dystrophic mice
    Kristin N Heller
    The Ohio State University, Columbus, OH, USA
    Mol Ther 21:520-5. 2013
    ..This therapeutic approach demonstrates promise as a viable treatment for DMD with further implications for other forms of muscular dystrophy...
  21. pmc Knee extensor strength exhibits potential to predict function in sporadic inclusion-body myositis
    Linda Pax Lowes
    Center for Gene Therapy, Nationwide Children s Hospital, 700 Children s Drive, Columbus, Ohio 43205, USA
    Muscle Nerve 45:163-8. 2012
    ..This has immediate relevance to translational studies that attempt to improve quadriceps strength in sporadic inclusion-body myositis (sIBM)...
  22. doi request reprint Effects of angiotensin-converting enzyme inhibitors and/or beta blockers on the cardiomyopathy in Duchenne muscular dystrophy
    Laurence Viollet
    Nationwide Children s Hospital, Columbus, OH, USA
    Am J Cardiol 110:98-102. 2012
    ..No significant difference occurred in EF improvement between treatment groups. In conclusion, treatment with ACE inhibitor or ACE inhibitor plus BB can delay progression of cardiomyopathy...
  23. ncbi request reprint LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy
    Kevin M Flanigan
    Center for Gene Therapy, Nationwide Children Hospital, Columbus, OH Department of Pediatrics, Ohio State University, Columbus, OH Department of Neurology, Ohio State University, Columbus, OH
    Ann Neurol 73:481-8. 2013
    ..We sought to determine whether LTBP4 genotype influenced DMD severity in a large patient cohort...
  24. pmc Vascular delivery of rAAVrh74.MCK.GALGT2 to the gastrocnemius muscle of the rhesus macaque stimulates the expression of dystrophin and laminin α2 surrogates
    Louis G Chicoine
    1 Department of Pediatrics, The Ohio State University and Nationwide Children s Hospital, Columbus, Ohio, USA 2 Centers for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio, USA
    Mol Ther 22:713-24. 2014
    ..These experiments demonstrate successful transduction of rhesus macaque muscle with rAAVrh74.MCK.GALGT2 after vascular delivery and induction of molecular changes thought to be therapeutic in several forms of muscular dystrophy. ..
  25. pmc Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect
    Kevin M Flanigan
    Center for Gene Therapy, Nationwide Children s Hospital, Columbus, OH 43209, USA
    Hum Gene Ther 24:797-806. 2013
    ....
  26. pmc Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors
    Amanda M Haidet
    The Research Institute, Nationwide Children s Hospital, Columbus, OH 43205, USA
    Proc Natl Acad Sci U S A 105:4318-22. 2008
    ..These results demonstrate a promising therapeutic strategy that warrants consideration for clinical trials in human muscle diseases...
  27. pmc AAV1.NT-3 Gene Therapy for Charcot-Marie-Tooth Neuropathy
    Zarife Sahenk
    1 Department of Pediatrics, The Ohio State University Nationwide Children s Hospital, Columbus, Ohio, USA 2 Center for Gene Therapy at The Research Institute at Nationwide Children s Hospital, Columbus, Ohio, USA 3 Department of Neurology, The Ohio State University Nationwide Children s Hospital, Columbus, Ohio, USA 4 Department of Pathology, The Ohio State University Nationwide Children s Hospital, Columbus, Ohio, USA
    Mol Ther 22:511-21. 2014
    ..These studies of intramuscular (i.m.) delivery of rAAV1.NT-3 serve as a template for future CMT1A clinical trials with a potential to extend treatment to other nerve diseases with impaired nerve regeneration. ..
  28. pmc Essential metabolic, anti-inflammatory, and anti-tumorigenic functions of miR-122 in liver
    Shu Hao Hsu
    Molecular, Cellular, and Developmental Biology Program, The Ohio State University, Columbus, OH, USA
    J Clin Invest 122:2871-83. 2012
    ....
  29. pmc Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders
    Adam K Bevan
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    Mol Ther 19:1971-80. 2011
    ..Our findings support the use of AAV9 for gene transfer to the CNS for disorders in pediatric populations...
  30. pmc Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy
    Rita Wen Kaspar
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital College of Nursing, The Ohio State University, Columbus, Ohio, USA
    Circ Cardiovasc Genet 2:544-51. 2009
    ..This approach was chosen to connect dystrophin structure with function in the heart...
  31. pmc VIP-expressing Dendritic Cells Protect Against Spontaneous Autoimmune Peripheral Polyneuropathy
    Mehmet E Yalvac
    1 Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA 2 Center for Gene Therapy, Nationwide Children s Hospital, Columbus, Ohio, USA
    Mol Ther 22:1353-63. 2014
    ..This proof-of-principle study is an important step potentially leading to a clinical translational study using DCs expressing VIP in cases of CIDP refractory to standard immunosuppressive therapy. ..
  32. pmc RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy
    Lindsay M Wallace
    Molecular, Cellular, and Developmental Biology Graduate Program, The Ohio State University, Columbus, Ohio, USA
    Mol Ther 20:1417-23. 2012
    ..We found that adeno-associated viral (AAV) vector-delivered therapeutic microRNAs corrected DUX4-associated myopathy in mouse muscle. These results provide proof-of-principle for RNAi therapy of FSHD through DUX4 inhibition...
  33. pmc Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene
    Kevin M Flanigan
    Center for Gene Therapy, Nationwide Children s Hospital, Columbus, Ohio, USA
    Hum Mutat 32:299-308. 2011
    ..We present a new model based on the combination of exon definition and intronic splicing regulatory elements for the selective association of BMD nonsense mutations with a subset of DMD exons prone to mutation-induced exon skipping...
  34. pmc Therapeutic microRNA delivery suppresses tumorigenesis in a murine liver cancer model
    Janaiah Kota
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Columbus, OH 43205, USA
    Cell 137:1005-17. 2009
    ..These findings suggest that delivery of miRNAs that are highly expressed and therefore tolerated in normal tissues but lost in disease cells may provide a general strategy for miRNA replacement therapies...
  35. ncbi request reprint Challenges for gene therapy for muscular dystrophy
    Jerry R Mendell
    Center for Gene Therapy, Columbus Children s Research Institute, Columbus, OH 43205, USA
    Curr Neurol Neurosci Rep 6:47-56. 2006
    ..This review examines recent progress and the hurdles remaining to achieve gene-based treatment therapies for muscular dystrophy...
  36. doi request reprint Cardiac management in neuromuscular diseases
    Hugh D Allen
    The Ohio State University College of Medicine, Columbus, OH, USA
    Phys Med Rehabil Clin N Am 23:855-68. 2012
    ..Some dystrophies can have significant conduction abnormalities requiring pacemaker treatment. Others with ventricular tachydysrhythmias may necessitate internal cardiac defibrillator placement...
  37. ncbi request reprint Gene therapy for duchenne muscular dystrophy: expectations and challenges
    Louise R Rodino-Klapac
    Center for Gene Therapy, Columbus Children s Research Institute, Columbus, OH, USA
    Arch Neurol 64:1236-41. 2007
    ..This article highlights the challenges and potential pitfalls as the field advances this treatment modality to clinical reality...
  38. pmc Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I
    Xiomara Q Rosales
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    J Cardiovasc Magn Reson 13:39. 2011
    ....
  39. doi request reprint Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damage
    Xiomara Q Rosales
    Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA
    J Child Neurol 23:748-51. 2008
    ..Validation of this finding is essential for management of patients with muscle disorders exposed to potentially hepatotoxic drugs for clinical management or monitoring subjects participating in clinical trials...
  40. pmc The congenital muscular dystrophies: recent advances and molecular insights
    Jerry R Mendell
    Department of Pediatrics, Columbus Children s Hospital and Research Institute and The Ohio State University, 700 Children s Drive, Columbus, OH 43205, USA
    Pediatr Dev Pathol 9:427-43. 2006
    ..g., family history, central nervous system features) can help guide the battery of immunostains necessary to target an unequivocal diagnosis...
  41. ncbi request reprint Update on the treatment of Duchenne muscular dystrophy
    Louise R Rodino-Klapac
    Department of Pediatrics, The Ohio State University, and Nationwide Children s Hospital, Columbus, OH 43210, USA
    Curr Neurol Neurosci Rep 13:332. 2013
    ..The advantages of each approach and challenges in translation are outlined in detail. Individually or in combination, all of these therapeutic strategies hold great promise for treatment of this devastating childhood disease...
  42. pmc Utility of cystatin C to monitor renal function in Duchenne muscular dystrophy
    Laurence Viollet
    Research Institute at Nationwide Children s Hospital and Department of Pediatrics at Ohio State University, 700 Children s Drive, Room 3011, Columbus, Ohio 43205, USA
    Muscle Nerve 40:438-42. 2009
    ..01). In one DMD subject in renal failure, cystatin C was elevated. This study demonstrates the potential value of cystatin C as a biomarker for monitoring renal function in DMD. Its applicability extends to other neuromuscular diseases...
  43. pmc Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy
    Vinod Malik
    The Research Institute at Nationwide Children s Hospital and Department of Pediatrics at The Ohio State University College of Medicine, Columbus, OH, USA
    Ther Adv Neurol Disord 3:379-89. 2010
    ..Here we review nonsense mutation suppression by aminoglycosides as a therapeutic strategy to treat DMD with special emphasis on gentamicin-induced readthrough of disease-causing premature termination codons...
  44. doi request reprint The muscular dystrophies: distinct pathogenic mechanisms invite novel therapeutic approaches
    Zarife Sahenk
    The Research Institute at Nationwide Children s Hospital, Departments of Pediatrics and Neurology, Ohio State University, 700 Children s Drive, Room WA3024, Columbus, OH 43205, USA
    Curr Rheumatol Rep 13:199-207. 2011
    ..In many ways, the molecular gene defects are the most traditional. Gene repair strategies have advanced to the level of clinical testing, and we hope they will provide relief for this most devastating form of muscular dystrophy...
  45. doi request reprint Correlation of knee strength to functional outcomes in Becker muscular dystrophy
    Lindsay N Alfano
    Center for Gene Therapy and the Paul D Wellstone Cooperative Research Center, The Research Institute at Nationwide Children s Hospital, 700 Children s Drive, Columbus, Ohio 43205, USA
    Muscle Nerve 47:550-4. 2013
    ....
  46. pmc Emerging drugs for Duchenne muscular dystrophy
    Vinod Malik
    The Ohio State University, Research Institute, Nationwide Children s Hospital and, Department of Pediatrics, Columbus, OH 43205, USA
    Expert Opin Emerg Drugs 17:261-77. 2012
    ..Finding a more satisfactory treatment should focus on maintaining long-term efficacy with a minimal side effect profile...
  47. ncbi request reprint Gene transfer for neurologic disease: agencies, policies, and process
    Jerry R Mendell
    Center for Neuromuscular Disorders, Children s Research Institute, Department of Neurology, The Ohio State University, WA 3024, 700 Children s Drive, Columbus, OH 43205, USA
    Neurology 63:2225-32. 2004
    ..The links provided to all appropriate Web sites will facilitate the process for the clinician investigator...
  48. doi request reprint Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy
    Philip T Thrush
    Department of Pediatrics, The Ohio State University, and the Heart Center, Nationwide Children s Hospital, Columbus, Ohio, USA
    Am J Cardiol 103:262-5. 2009
    ..Previously reported characteristic ECG changes are seen in a minority of DMD cases. The most common findings are short PR interval and RVH. Prominent Q waves in leads II, III, aVF, V5, and V6 are more likely...
  49. ncbi request reprint Challenges in drug development for muscle disease: a stakeholders' meeting
    Jerry R Mendell
    Columbus Children s Research Institute, and Ohio State University, 700 Children s Drive, Columbus, OH 43235, USA
    Muscle Nerve 35:8-16. 2007
    ..The meeting provided a format for communication for diverse disciplines that usually have no common meeting ground, helping to lay the foundation for bringing products to market in a timely fashion...
  50. ncbi request reprint Dexmedetomidine and ketamine sedation for muscle biopsies in patients with Duchenne muscular dystrophy
    Hiromi Kako
    Department of Anesthesiology and Pain Medicine, Nationwide Children s Hospital, Columbus, OH, USA Department of Anesthesiology, The Ohio State University, Columbus, OH, USA
    Paediatr Anaesth 24:851-6. 2014
    ..This study prospectively evaluated a combination of ketamine with two different doses of dexmedetomidine for sedation during muscle biopsy in patients with DMD...
  51. doi request reprint 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...
  52. ncbi request reprint Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B
    Chang Yong Tsao
    Departments of Pediatric and Neurology, The Ohio State University, Columbus, Ohio, USA
    J Child Neurol 24:346-8. 2009
    ..We now report another rare case of partial epilepsy and limb-girdle muscular dystrophy type 1B with lamin A/C gene mutation...