duchenne muscular dystrophy

Summary

Summary: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Top Publications

  1. ncbi Effect of creatine monohydrate in improving cellular energetics and muscle strength in ambulatory Duchenne muscular dystrophy patients: a randomized, placebo-controlled 31P MRS study
    Bidisha Banerjee
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Magn Reson Imaging 28:698-707. 2010
  2. ncbi Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
    Katharine Bushby
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Lancet Neurol 9:77-93. 2010
  3. ncbi The muscular dystrophies
    Alan E H Emery
    Peninsula Medical School, Department of Neurology, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK
    Lancet 359:687-95. 2002
  4. ncbi Local dystrophin restoration with antisense oligonucleotide PRO051
    Judith C van Deutekom
    Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    N Engl J Med 357:2677-86. 2007
  5. ncbi Common micro-RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia
    Simona Greco
    Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Donato, San Donato Milanese, Milan, Italy
    FASEB J 23:3335-46. 2009
  6. ncbi Stem and progenitor cells in skeletal muscle development, maintenance, and therapy
    Bruno Peault
    Stem Cell Research Center, Children s Hospital of Pittsburgh, Department of Orthopaedic Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
    Mol Ther 15:867-77. 2007
  7. ncbi Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care
    Katharine Bushby
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Lancet Neurol 9:177-89. 2010
  8. ncbi Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs
    Maurilio Sampaolesi
    San Raffaele Scientific Institute, Universita Vita e Salute, Stem Cell Research Institute, Via Olgettina 58, 20132 Milan, Italy
    Nature 444:574-9. 2006
  9. pmc Preclinical drug trials in the mdx mouse: assessment of reliable and sensitive outcome measures
    Christopher F Spurney
    Research Center for Genetic Medicine, Children s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010, USA
    Muscle Nerve 39:591-602. 2009
  10. ncbi The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy
    Craig M McDonald
    Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, 95817, USA
    Muscle Nerve 41:500-10. 2010

Detail Information

Publications380 found, 100 shown here

  1. ncbi Effect of creatine monohydrate in improving cellular energetics and muscle strength in ambulatory Duchenne muscular dystrophy patients: a randomized, placebo-controlled 31P MRS study
    Bidisha Banerjee
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Magn Reson Imaging 28:698-707. 2010
    ..manual muscle test (MMT) score and functional status in steroid-naive, ambulatory boys suffering with Duchenne muscular dystrophy (DMD; n=33)...
  2. ncbi Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
    Katharine Bushby
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Lancet Neurol 9:77-93. 2010
    b>Duchenne muscular dystrophy (DMD) is a severe, progressive disease that affects 1 in 3600-6000 live male births. Although guidelines are available for various aspects of DMD, comprehensive clinical care recommendations do not exist...
  3. ncbi The muscular dystrophies
    Alan E H Emery
    Peninsula Medical School, Department of Neurology, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK
    Lancet 359:687-95. 2002
    ..However, advances in gene manipulation and stem-cell therapy suggest cautious optimism for finding an effective treatment in the not-too-distant future...
  4. ncbi Local dystrophin restoration with antisense oligonucleotide PRO051
    Judith C van Deutekom
    Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    N Engl J Med 357:2677-86. 2007
    ..We explored the safety, adverse-event profile, and local dystrophin-restoring effect of a single, intramuscular dose of an antisense oligonucleotide, PRO051, in patients with this disease...
  5. ncbi Common micro-RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia
    Simona Greco
    Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Donato, San Donato Milanese, Milan, Italy
    FASEB J 23:3335-46. 2009
    ..Eleven miRNAs were deregulated both in MDX mice and in Duchenne muscular dystrophy patients (DMD signature)...
  6. ncbi Stem and progenitor cells in skeletal muscle development, maintenance, and therapy
    Bruno Peault
    Stem Cell Research Center, Children s Hospital of Pittsburgh, Department of Orthopaedic Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA
    Mol Ther 15:867-77. 2007
    ..Allogeneic myoblasts transplanted into Duchenne muscular dystrophy (DMD) patients have been, in early trials, largely inefficient owing to immune rejection, rapid death, ..
  7. ncbi Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care
    Katharine Bushby
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Lancet Neurol 9:177-89. 2010
    Optimum management of Duchenne muscular dystrophy (DMD) requires a multidisciplinary approach that focuses on anticipatory and preventive measures as well as active interventions to address the primary and secondary aspects of the ..
  8. ncbi Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs
    Maurilio Sampaolesi
    San Raffaele Scientific Institute, Universita Vita e Salute, Stem Cell Research Institute, Via Olgettina 58, 20132 Milan, Italy
    Nature 444:574-9. 2006
    b>Duchenne muscular dystrophy remains an untreatable genetic disease that severely limits motility and life expectancy in affected children...
  9. pmc Preclinical drug trials in the mdx mouse: assessment of reliable and sensitive outcome measures
    Christopher F Spurney
    Research Center for Genetic Medicine, Children s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010, USA
    Muscle Nerve 39:591-602. 2009
    The availability of animal models for Duchenne muscular dystrophy has led to extensive preclinical research on potential therapeutics. Few studies have focused on reliability and sensitivity of endpoints for mdx mouse drug trials...
  10. ncbi The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy
    Craig M McDonald
    Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, Sacramento, California, 95817, USA
    Muscle Nerve 41:500-10. 2010
    Walking abnormalities are prominent in Duchenne muscular dystrophy (DMD)...
  11. pmc Towards developing standard operating procedures for pre-clinical testing in the mdx mouse model of Duchenne muscular dystrophy
    Miranda D Grounds
    School of Anatomy and Human Biology, The University of Western Australia, Perth, Western Australia, Australia
    Neurobiol Dis 31:1-19. 2008
    ..when developing standard operating procedures for pre-clinical studies in the mdx mouse model of Duchenne muscular dystrophy (DMD)...
  12. pmc Interplay of IKK/NF-kappaB signaling in macrophages and myofibers promotes muscle degeneration in Duchenne muscular dystrophy
    Swarnali Acharyya
    Human Cancer Genetics Program and Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA
    J Clin Invest 117:889-901. 2007
    b>Duchenne muscular dystrophy (DMD) is a lethal X-linked disorder associated with dystrophin deficiency that results in chronic inflammation and severe skeletal muscle degeneration...
  13. pmc Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    Maria Kinali
    The Dubowitz Neuromuscular Centre, University College London Institute of Child Health London, London, UK
    Lancet Neurol 8:918-28. 2009
    ..prevent full translation of DMD, the gene that encodes dystrophin, underlie the fatal X-linked disease Duchenne muscular dystrophy. Oligonucleotides targeted to splicing elements (splice switching oligonucleotides) in DMD pre-mRNA can ..
  14. ncbi Corticosteroid treatment and functional improvement in Duchenne muscular dystrophy: long-term effect
    Birol Balaban
    Department of Physical Medicine and Rehabilitation, Gulhane Military Medical Academy, Etlik Ankara, Turkey
    Am J Phys Med Rehabil 84:843-50. 2005
    To determine and compare the long-term effects of prednisone and deflazacort on the functional status of children with Duchenne muscular dystrophy.
  15. ncbi Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up
    Sylvie Houde
    Department of Pediatrics, Division of Rehabilitation Medicine, Marie Enfant Rehabilitation Center, 5200 Bélanger East, Montreal, Quebec, Canada
    Pediatr Neurol 38:200-6. 2008
    Data reported here were collected over an 8-year period for 79 Duchenne muscular dystrophy patients, 37 of whom were treated with deflazacort. Mean length of treatment was 66 months. Treated boys stopped walking at 11.5 +/- 1...
  16. ncbi Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule
    Annemieke Aartsma-Rus
    Leiden University Medical Center, Department of Human Genetics, P O Box 9600, 2300 RC Leiden, The Netherlands
    Muscle Nerve 34:135-44. 2006
    ..In this study we provide an update of the mutational variability in the DMD gene, particularly focusing on genotype-phenotype correlations and mutations that appear to be exceptions to the reading-frame rule...
  17. pmc Menstrual blood-derived cells confer human dystrophin expression in the murine model of Duchenne muscular dystrophy via cell fusion and myogenic transdifferentiation
    Chang Hao Cui
    Department of Reproductive Biology and Pathology, National Institute for Child Health and Development, Tokyo, 157 8535, Japan
    Mol Biol Cell 18:1586-94. 2007
    b>Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder in children, is an X-linked recessive muscle disease characterized by the absence of dystrophin at the sarcolemma of muscle fibers...
  18. pmc PGC-1alpha regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy
    Christoph Handschin
    Dana Farber Cancer Institute and Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Genes Dev 21:770-83. 2007
    ..Since a subset of genes controlled by PGC-1alpha and GABP is dysregulated in Duchenne muscular dystrophy (DMD), we examined the effects of transgenic PGC-1alpha in muscle of mdx mice...
  19. ncbi Helper (CD4(+)) and cytotoxic (CD8(+)) T cells promote the pathology of dystrophin-deficient muscle
    M J Spencer
    Department of Pediatrics, University of California at Los Angeles, California 90095-1606, USA
    Clin Immunol 98:235-43. 2001
    b>Duchenne muscular dystrophy (DMD) and mdx mouse dystrophy result from mutations in the dystrophin gene...
  20. ncbi Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy
    Lainie Friedman Ross
    Department of Pediatrics, Section of General Pediatrics, University of Chicago, Illinois 60637, USA
    Am J Med Genet A 140:914-22. 2006
    ..I examine four overlapping policy and ethical issues regarding screening newborns (and infants) for Duchenne muscular dystrophy (DMD)...
  21. ncbi Intermittent prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial
    Ernesto A C Beenakker
    Department of Neurology, University Hospital Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    Arch Neurol 62:128-32. 2005
    Prednisone treatment is used to prolong ambulation in patients with Duchenne muscular dystrophy (DMD)...
  22. ncbi The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales
    Sarah E Davis
    Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390 9063, USA
    J Clin Neuromuscul Dis 11:97-109. 2010
    ..0 Neuromuscular Module (NMM) in assessing health-related quality of life in the Duchenne muscular dystrophy (DMD) population for use as a secondary outcome measure in phase III clinical trials.
  23. ncbi New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials
    Giulio Cossu
    Stem Cell Research Institute, DIBIT, H San Raffaele, 58 Via Olgettina, 20132 Milan, Italy
    Trends Mol Med 13:520-6. 2007
    ..Here we review the main experimental strategies, namely drug, gene and cell therapies, outlining their goals and limitations. We also provide an update of ongoing or planned clinical trials based on these strategies...
  24. ncbi Elevated satellite cell number in Duchenne muscular dystrophy
    Michael Kottlors
    Division of Neuropediatrics and Muscle Disorders, University Children s Hospital Freiburg, Freiburg, Germany
    Cell Tissue Res 340:541-8. 2010
    ..However, in Duchenne muscular dystrophy (DMD), regeneration cannot compensate for the loss of muscle tissue...
  25. pmc Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications
    Annemieke Aartsma-Rus
    DMD Genetic Therapy Group, Department of Human Genetics, Leiden University Medical Center, P O Box 9600, 2300 RC, Leiden, The Netherlands
    RNA 13:1609-24. 2007
    ..to restore cryptic splicing, to change levels of alternatively spliced genes, or, in case of Duchenne muscular dystrophy (DMD), to skip an exon in order to restore a disrupted reading frame...
  26. pmc Complete genetic correction of ips cells from Duchenne muscular dystrophy
    Yasuhiro Kazuki
    Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Science, Tottori University, Yonago, Japan
    Mol Ther 18:386-93. 2010
    ..of concept, we show herein the complete correction of a genetic deficiency in iPS cells derived from Duchenne muscular dystrophy (DMD) model (mdx) mice and a human DMD patient using a HAC with a complete genomic dystrophin sequence (..
  27. ncbi In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping
    Hans A Heemskerk
    DMD Genetic Therapy Group, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    J Gene Med 11:257-66. 2009
    Antisense-mediated exon skipping is a putative treatment for Duchenne muscular dystrophy (DMD)...
  28. ncbi 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).
  29. ncbi The value of mammalian models for duchenne muscular dystrophy in developing therapeutic strategies
    Glen B Banks
    Department of Neurology, University of Washington, Seattle, Washington, USA
    Curr Top Dev Biol 84:431-53. 2008
    b>Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy. There is no effective treatment and patients typically die in approximately the third decade...
  30. ncbi Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials
    Virginia Arechavala-Gomeza
    The Dubowitz Neuromuscular Centre, Institute of Child Health, University College, London, UK
    Neuromuscul Disord 20:295-301. 2010
    b>Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces...
  31. ncbi Muscle MRI in inherited neuromuscular disorders: past, present, and future
    Eugenio Mercuri
    Department of Child Neurology and Psychiatry, Catholic University, Rome, Italy
    J Magn Reson Imaging 25:433-40. 2007
    ..Possible future applications of muscle MRI are also discussed...
  32. ncbi Effects of deflazacort on left ventricular function in patients with Duchenne muscular dystrophy
    Candice K Silversides
    Toronto Congenital Cardiac Centre for Adults, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada
    Am J Cardiol 91:769-72. 2003
  33. ncbi Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy
    Denis Duboc
    French Working Group of Heart Involvement in Myopathies Investigators, Paris, France
    J Am Coll Cardiol 45:855-7. 2005
    The aim of this research was to examine the effects of perindopril on cardiac function in patients with Duchenne muscular dystrophy (DMD).
  34. ncbi Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up
    Denis Duboc
    Department of Cardiology, Cochin Hospital, APHP, Paris V René Descartes University, Paris, France
    Am Heart J 154:596-602. 2007
    b>Duchenne muscular dystrophy (DMD), an X-linked disorder due to lack of dystrophin, is associated with muscle weakness and myocardial dysfunction...
  35. pmc Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle
    Yvan Torrente
    Stem Cell Laboratory, Department of Neurological Science, Instituto di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Policlinico, Centro Dino Ferrari, University of Milan, Italy
    J Clin Invest 114:182-95. 2004
    b>Duchenne muscular dystrophy (DMD) is a common X-linked disease characterized by widespread muscle damage that invariably leads to paralysis and death. There is currently no therapy for this disease...
  36. ncbi Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs
    Toshifumi Yokota
    Research Center for Genetic Medicine, Children s National Medical Center, Washington, DC 20010, USA
    Ann Neurol 65:667-76. 2009
    b>Duchenne muscular dystrophy (DMD) is caused by the inability to produce dystrophin protein at the myofiber membrane...
  37. pmc Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy
    Jachinta E Rooney
    Department of Pharmacology, University of Nevada School of Medicine, Reno, NV 89557, USA
    Proc Natl Acad Sci U S A 106:7991-6. 2009
    b>Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease caused by mutations in the gene encoding dystrophin. Loss of dystrophin results in reduced sarcolemmal integrity and increased susceptibility to muscle damage...
  38. pmc Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling
    R Turk
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, Nederland
    BMC Genomics 6:98. 2005
    b>Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is lethal. In contrast, dystrophin-deficient mdx mice recover due to effective regeneration of affected muscle tissue...
  39. ncbi Three-point technique of fat quantification of muscle tissue as a marker of disease progression in Duchenne muscular dystrophy: preliminary study
    Tishya A L Wren
    Department of Radiology, Children s Hospital Los Angeles, 4650 Sunset Blvd, MS 81, Los Angeles, CA 90027, USA
    AJR Am J Roentgenol 190:W8-12. 2008
    Clinical trials involving patients with Duchenne muscular dystrophy are hindered by the lack of suitable objective end points...
  40. ncbi Anti-TNFalpha (Remicade) therapy protects dystrophic skeletal muscle from necrosis
    Miranda D Grounds
    School of Anatomy and Human Biology, The University of Western Australia, 35 Stirling Hwy, Crawley, Western Australia, Australia 6009
    FASEB J 18:676-82. 2004
    Necrosis of skeletal muscle fibers in the lethal childhood myopathy Duchenne muscular dystrophy (DMD) results from defects in the cell membrane-associated protein, dystrophin...
  41. ncbi Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associated with macrophage alternative activation
    Isabelle Desguerre
    AP HP, Necker Enfants Malades Hospital, Neuropediatry Unit, Paris, France
    J Neuropathol Exp Neurol 68:762-73. 2009
    There is considerable interindividual variability in motor function among patients with Duchenne muscular dystrophy (DMD); moreover, pathogenetic mechanisms of motor dysfunction in DMD are not understood...
  42. ncbi Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients
    Ernesto A C Beenakker
    Department of Neurology, University Hospital Groningen, P O Box 30001, 9700 RB Groningen, The Netherlands
    Eur J Paediatr Neurol 9:387-93. 2005
    ..These normal values were compared with values obtained in 16 ambulant patients with Duchenne muscular dystrophy (DMD) aged 5-8 years to study the extent of functional impairment...
  43. ncbi Proteasome expression in the skeletal muscles of patients with muscular dystrophy
    T Kumamoto
    Third Department of Internal Medicine, Oita Medical University, Hasama, Japan
    Acta Neuropathol 100:595-602. 2000
    ..We suggest that the ATP-ubiquitin-dependent proteolytic pathway as well as the nonlysosomal calpain pathway may participate in muscle fiber degradation in muscular dystrophy...
  44. ncbi Prednisolone in Duchenne muscular dystrophy with imminent loss of ambulation
    Sunil Pradhan
    Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, India
    J Neurol 253:1309-16. 2006
    ....
  45. pmc Targeting fibrosis in Duchenne muscular dystrophy
    Lan Zhou
    From the Department of Neurology, Neurological Institute, and Department of Neurosciences, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    J Neuropathol Exp Neurol 69:771-6. 2010
    b>Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease affecting 1 in 3,500 live male births. It is an X-linked recessive disease caused by a defective dystrophin gene...
  46. ncbi CINRG pilot trial of oxatomide in steroid-naïve Duchenne muscular dystrophy
    Gunnar M Buyse
    University Hospitals KU Leuven, Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Eur J Paediatr Neurol 11:337-40. 2007
    ..A modest mitigation of strength deterioration over time cannot be excluded...
  47. ncbi Life with home mechanical ventilation for young men with Duchenne muscular dystrophy
    Pia Sander Dreyer
    Aarhus University Hospital, Denmark
    J Adv Nurs 66:753-62. 2010
    This paper is a report of a study from a patient perspective of the life experiences with home mechanical ventilation among young men with Duchenne muscular dystrophy.
  48. ncbi Nitric oxide deficiency determines global chromatin changes in Duchenne muscular dystrophy
    Claudia Colussi
    Laboratorio di Terapia Genica e Biologia Vascolare, Istituto Cardiologico Monzino, Milan, Italy
    FASEB J 23:2131-41. 2009
    ..patterns of global histone modification are present in the skeletal muscle nuclei of mdx mice and Duchenne muscular dystrophy (DMD) patients...
  49. ncbi Skeletal muscle metabolism in Duchenne muscular dystrophy (DMD): an in-vitro proton NMR spectroscopy study
    Uma Sharma
    Department of NMR, All India Institute of Medical Sciences, New Delhi 110 029, India
    Magn Reson Imaging 21:145-53. 2003
    The metabolic differences in the skeletal muscle of patients with Duchenne muscular dystrophy (DMD) and normal subjects (controls) were investigated using in-vitro high-resolution proton NMR spectroscopy...
  50. ncbi Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands
    K Bushby
    Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne NE3 4YQ, UK
    Neuromuscul Disord 14:526-34. 2004
  51. ncbi Injection of a recombinant AAV serotype 2 into canine skeletal muscles evokes strong immune responses against transgene products
    K Yuasa
    Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Gene Ther 14:1249-60. 2007
    ..virus (rAAV)-mediated microdystrophin gene transfer is a promising approach to treatment of Duchenne muscular dystrophy (DMD)...
  52. ncbi Early onset of inflammation and later involvement of TGFbeta in Duchenne muscular dystrophy
    Y W Chen
    Research Center for Genetic Medicine, Children s National Medical Center, George Washington University, Washington, DC, USA
    Neurology 65:826-34. 2005
    To identify stage-specific induction of molecular pathology pathways in Duchenne muscular dystrophy (DMD).
  53. ncbi Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive--compulsive disorder
    Joseph G M Hendriksen
    Kempenhaeghe Epilepsy Centre, Department of Behavioral Sciences, PO Box 61, 5590AB Heeze, The Netherlands
    J Child Neurol 23:477-81. 2008
    ..ADHDs), autism spectrum disorders, and obsessive-compulsive disorders in a group of 351 males with Duchenne muscular dystrophy. Of the 351 males with Duchenne muscular dystrophy, 11...
  54. ncbi Steroid therapy and cardiac function in Duchenne muscular dystrophy
    L W Markham
    Department of Pediatrics, Division of Pediatric Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
    Pediatr Cardiol 26:768-71. 2005
    b>Duchenne muscular dystrophy leads to progressive deterioration in skeletal and cardiac muscle function. Steroids prolong ambulation and improve respiratory muscle strength...
  55. ncbi Approaching a new age in Duchenne muscular dystrophy treatment
    Kathryn R Wagner
    Department of Neurology, The Johns Hopkins School of Medicine, Baltimore, Maryland 21287, USA
    Neurotherapeutics 5:583-91. 2008
    b>Duchenne muscular dystrophy is the most common and severe form of muscular dystrophy...
  56. ncbi Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy
    Marly Conceição Silva
    Axial Centro de Imagem, Belo Horizonte, Minas Gerais, Brazil
    J Am Coll Cardiol 49:1874-9. 2007
    ..This study sought to analyze whether cardiovascular magnetic resonance (CMR) can detect and quantify myocardial damage in the early stages of cardiomyopathy in muscular dystrophies (MD)...
  57. ncbi Mammalian animal models for Duchenne muscular dystrophy
    Raffaella Willmann
    Biozentrum, University of Basel, Klingelbergstrasse 70, CH 4056 Basel, Switzerland
    Neuromuscul Disord 19:241-9. 2009
    b>Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease that affects boys and leads to early death...
  58. ncbi Pathophysiology of duchenne muscular dystrophy: current hypotheses
    Nicolas Deconinck
    Department of Neurology, Hopital Universitaire des Enfants Reine Fabiola, Universite Libre de Bruxelles, Brussels, Belgium
    Pediatr Neurol 36:1-7. 2007
    b>Duchenne muscular dystrophy is a devastating inherited neuromuscular disorder that affects one in 3300 live male births...
  59. ncbi Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations
    Annemieke Aartsma-Rus
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 30:293-9. 2009
    ..exon skipping aiming for reading frame restoration is currently a promising therapeutic application for Duchenne muscular dystrophy (DMD)...
  60. ncbi Functional improvement of dystrophic muscle by myostatin blockade
    Sasha Bogdanovich
    Department of Physiology and Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, 3700 Hamilton Walk, Richards A 601, Philadelphia, Pennsylvania 19104 6085, USA
    Nature 420:418-21. 2002
    ..of inhibition of myostatin in vivo to ameliorate the dystrophic phenotype in the mdx mouse model of Duchenne muscular dystrophy (DMD)...
  61. pmc HDAC2 blockade by nitric oxide and histone deacetylase inhibitors reveals a common target in Duchenne muscular dystrophy treatment
    Claudia Colussi
    Laboratorio di Terapia Genica e Biologia Vascolare, Istituto Cardiologico Monzino, 20138 Milan, Italy
    Proc Natl Acad Sci U S A 105:19183-7. 2008
    ..These data reveal a special contribution of HDAC2 in the pathogenesis of Duchenne muscular dystrophy and indicate that HDAC2 inhibition by NO-dependent S-nitrosylation is important for the therapeutic ..
  62. pmc In situ measurements of calpain activity in isolated muscle fibres from normal and dystrophin-lacking mdx mice
    P Gailly
    Laboratory of Cell Physiology, Catholic University of Louvain, 1200 Brussels, Belgium
    J Physiol 582:1261-75. 2007
    ..are Ca(2+)-activated proteases that are thought to be involved in muscle degenerative diseases such as Duchenne muscular dystrophy. Status and activity of calpains in adult muscle fibres are poorly documented...
  63. ncbi Reduced necrosis of dystrophic muscle by depletion of host neutrophils, or blocking TNFalpha function with Etanercept in mdx mice
    Stuart Hodgetts
    School of Anatomy and Human Biology, The University of Western Australia, 35 Stirling Highway, Crawley, Western Australia 6009, Australia
    Neuromuscul Disord 16:591-602. 2006
    Necrosis of skeletal muscle fibres in the lethal childhood myopathy Duchenne Muscular Dystrophy results from deficiency of the cell membrane associated protein, dystrophin...
  64. pmc Sildenafil reverses cardiac dysfunction in the mdx mouse model of Duchenne muscular dystrophy
    Candace M Adamo
    Departments of Pharmacology, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 107:19079-83. 2010
    b>Duchenne muscular dystrophy (DMD) is a progressive and fatal genetic disorder of muscle degeneration. Patients with DMD lack expression of the protein dystrophin as a result of mutations in the X-linked dystrophin gene...
  65. pmc Leaky RyR2 trigger ventricular arrhythmias in Duchenne muscular dystrophy
    Jeremy Fauconnier
    Institut National de la Santé et de la Recherche Médical U637, Physiopathologie Cardiovasculaire, F 34295 Montpellier, France
    Proc Natl Acad Sci U S A 107:1559-64. 2010
    Patients with Duchenne muscular dystrophy (DMD) have a progressive dilated cardiomyopathy associated with fatal cardiac arrhythmias...
  66. ncbi Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade
    W D Biggar
    Bloorview Kids Rehab, 150 Kilgour Road, Toronto, Ont, Canada M4G IR8
    Neuromuscul Disord 16:249-55. 2006
    We compare the clinical course of 74 boys 10-18 years of age with Duchenne muscular dystrophy (DMD) treated (40) and not treated (34) with deflazacort...
  67. ncbi Morpholinos and their peptide conjugates: therapeutic promise and challenge for Duchenne muscular dystrophy
    Hong M Moulton
    College of Veterinary Medicine, Oregon State University, Corvallis, OR 97331, USA
    Biochim Biophys Acta 1798:2296-303. 2010
    ..conjugates of PMOs with cell-penetrating peptides (PPMOs) have been tested in various animal models of Duchenne muscular dystrophy (DMD), including mdx mice, utrophin-dystrophin double-knockout mice, and CXMD dogs, as well as in DMD ..
  68. pmc TNF inhibits Notch-1 in skeletal muscle cells by Ezh2 and DNA methylation mediated repression: implications in duchenne muscular dystrophy
    Swarnali Acharyya
    Human Cancer Genetics and Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, Columbus, Ohio, United States of America
    PLoS ONE 5:e12479. 2010
    ..This regulation coincides with elevated levels of muscle derived TNFalpha that is also under IKKbeta and NF-kappaB control...
  69. ncbi Dysregulated intracellular signaling and inflammatory gene expression during initial disease onset in Duchenne muscular dystrophy
    Nicholas P Evans
    Department of Human Nutrition, Foods and Exercise, Virginia Polytechnic Institute and State University, Blacksburg, Virginia 24061, USA
    Am J Phys Med Rehabil 88:502-22. 2009
    b>Duchenne muscular dystrophy is a debilitating genetic disorder characterized by severe muscle wasting and early death in affected boys...
  70. ncbi Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
    Fatma Daoud
    Institut Cochin, Universite Paris Descartes, INSERM, CNRS UMR, France
    Hum Mol Genet 18:3779-94. 2009
    ..of clinical, cognitive, molecular and expression data in a large cohort of 81 patients affected with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) bearing mutations predicted to affect either all dystrophin ..
  71. ncbi Pharmacological activation of PPARbeta/delta stimulates utrophin A expression in skeletal muscle fibers and restores sarcolemmal integrity in mature mdx mice
    Pedro Miura
    Department of Cellular and Molecular Medicine and Center for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada K1H 8M5
    Hum Mol Genet 18:4640-9. 2009
    A therapeutic strategy to treat Duchenne muscular dystrophy (DMD) involves identifying compounds that can elevate utrophin A expression in muscle fibers of affected patients...
  72. ncbi Immunity to adeno-associated virus-mediated gene transfer in a random-bred canine model of Duchenne muscular dystrophy
    Zejing Wang
    Program in Transplantation Biology, Division of Clinical Research, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Hum Gene Ther 18:18-26. 2007
    ..has shown promise for treating diseases in various animal models including the mdx mouse model of Duchenne muscular dystrophy (DMD)...
  73. pmc Circumferential strain analysis identifies strata of cardiomyopathy in Duchenne muscular dystrophy: a cardiac magnetic resonance tagging study
    Kan N Hor
    Department of Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    J Am Coll Cardiol 53:1204-10. 2009
    This study sought to evaluate the natural history of occult cardiac dysfunction in Duchenne muscular dystrophy (DMD).
  74. ncbi Decreased myocardial nNOS, increased iNOS and abnormal ECGs in mouse models of Duchenne muscular dystrophy
    B L Bia
    Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK
    J Mol Cell Cardiol 31:1857-62. 1999
    b>Duchenne muscular dystrophy is a devastating neuromuscular disease caused by lack of the protein, dystrophin, in skeletal muscle and heart, although the biochemical mechanism by which dystrophin loss causes muscle dysfunction is unknown...
  75. ncbi Occult cardiac contractile dysfunction in dystrophin-deficient children revealed by cardiac magnetic resonance strain imaging
    M W Ashford
    Department of Medicine, Washington University School of Medicine, St Louis, MO, USA
    Circulation 112:2462-7. 2005
    b>Duchenne muscular dystrophy (DMD) is an inherited disease characterized by early onset of skeletal muscle degeneration and progressive weakness...
  76. ncbi Utrophin deficiency worsens cardiac contractile dysfunction present in dystrophin-deficient mdx mice
    Paul M L Janssen
    Dept of Physiology and Cell Biology, The Ohio State Univ, 304 Hamilton Hall, 1645 Neil Ave, Columbus, OH 43210 1218, USA
    Am J Physiol Heart Circ Physiol 289:H2373-8. 2005
    The loss of dystrophin in patients with Duchenne muscular dystrophy (DMD) causes devastating skeletal muscle degeneration and cardiomyopathy...
  77. ncbi In vitro evaluation of novel antisense oligonucleotides is predictive of in vivo exon skipping activity for Duchenne muscular dystrophy
    Qingsong Wang
    State Key Laboratory of AgroBiotech, The Life Science Research Centre, China Agricultural University, Beijing, China
    J Gene Med 12:354-64. 2010
    ..b>Duchenne muscular dystrophy (DMD) arises as a result of mutations that interrupt the open-reading frame in the DMD gene encoding ..
  78. ncbi Duplications in the DMD gene
    S J White
    Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Hum Mutat 27:938-45. 2006
    ..There appear to be fundamental differences therefore in the origin of deletions and duplications in the DMD gene...
  79. ncbi Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells
    A Aartsma-Rus
    Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg, AL Leiden, The Netherlands
    Gene Ther 11:1391-8. 2004
    As small molecule drugs for Duchenne muscular dystrophy (DMD), antisense oligonucleotides (AONs) have been shown to restore the disrupted reading frame of DMD transcripts by inducing specific exon skipping...
  80. ncbi Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation
    Michelle Eagle
    Newcastle Muscle Centre, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Neuromuscul Disord 12:926-9. 2002
    We reviewed the notes of 197 patients with Duchenne muscular dystrophy whose treatment was managed at the Newcastle muscle centre from 1967 to 2002, to determine whether survival has improved over the decades and whether the impact of ..
  81. ncbi Report on the muscular dystrophy campaign workshop: exercise in neuromuscular diseases Newcastle, January 2002
    Michelle Eagle
    Newcastle Muscle Centre, Institute of Genetics, International Centre for Life, NE1 3BZ, Newcastle, UK
    Neuromuscul Disord 12:975-83. 2002
  82. ncbi cDNA microarray analysis of individual Duchenne muscular dystrophy patients
    Satoru Noguchi
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi, Kodaira, Tokyo 187 8502, Japan
    Hum Mol Genet 12:595-600. 2003
    ..We analyzed muscle specimen from individuals with Duchenne muscular dystrophy to identify differences among patients...
  83. ncbi Lung inflation by glossopharyngeal breathing and "air stacking" in Duchenne muscular dystrophy
    John R Bach
    Department of Physical Medicine and Rehabilitation, University of Medicine and Dentistry of New Jersey New Jersey Medical School, New Jersey, USA
    Am J Phys Med Rehabil 86:295-300. 2007
    To compare the use of glossopharyngeal breathing (GPB) and air stacking to increase lung volumes and cough peak flows (CPF), and GPB to increase ventilator-free breathing ability (VFBA), for patients with Duchenne muscular dystrophy.
  84. pmc The action potential-evoked sarcoplasmic reticulum calcium release is impaired in mdx mouse muscle fibres
    Christopher E Woods
    Department of Physiology, UCLA School of Medicine, Los Angeles, CA 90095, USA
    J Physiol 557:59-75. 2004
    The mdx mouse, a model of the human disease Duchenne muscular dystrophy, has skeletal muscle fibres which display incompletely understood impaired contractile function...
  85. ncbi Brain function in Duchenne muscular dystrophy
    J L Anderson
    School of Physiology and Pharmacology, University of New South Wales, Sydney, Australia
    Brain 125:4-13. 2002
    b>Duchenne muscular dystrophy (DMD) is the second most commonly occurring genetically inherited disease in humans. It is an X-linked condition that affects approximately one in 3300 live male births...
  86. ncbi Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival
    Michelle Eagle
    University of Newcastle and Newcastle upon Tyne Hospitals Trust, New Castle Muscle Centre, Institute of Genetics, Center for Life, Central Parkway, Newcastle, NE13BZ, UK
    Neuromuscul Disord 17:470-5. 2007
    To determine the long term survival in patients with Duchenne muscular dystrophy (DMD) following spinal surgery and nocturnal ventilation.
  87. ncbi Intrinsic laryngeal muscles are spared from myonecrosis in the mdx mouse model of Duchenne muscular dystrophy
    Maria Julia Marques
    Departamento de Anatomia, Instituto de Biologia, Universidade Estadual de Campinas, Campinas, Sao Paulo 13083 970, Brazil
    Muscle Nerve 35:349-53. 2007
    ..many anatomical and physiological properties with extraocular muscles, which are unaffected in both Duchenne muscular dystrophy and mdx mice...
  88. ncbi Severe alterations of endothelial and glial cells in the blood-brain barrier of dystrophic mdx mice
    Beatrice Nico
    Department of Human Anatomy and Histology, University of Bari Medical School, Bari, Italy
    Glia 42:235-51. 2003
    ..blood-brain barrier (BBB) in the brain of the dystrophin-deficient mdx mouse, an experimental model of Duchenne muscular dystrophy (DMD)...
  89. ncbi Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy
    Roy V Sillitoe
    Department of Cell Biology and Anatomy, and Genes and Development Research Group, Faculty of Medicine, The University of Calgary, Calgary, Alberta T2N 4N1, Canada
    J Neurosci 23:6576-85. 2003
    ..In a mouse model of Duchenne muscular dystrophy, the mdx mutant, in which dystrophin is not expressed, there is a dramatic increase in the number of ..
  90. ncbi Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration
    Toshifumi Yokota
    Muscle Cell Biology Group, Medical Research Council Clinical Science Centre, Hammersmith Hospital Campus, Imperial College School of Medicine, London University, Du Cane Road, London, W12 0NN, UK
    J Cell Sci 119:2679-87. 2006
    b>Duchenne muscular dystrophy and the mdx mouse myopathies reflect a lack of dystrophin in muscles. However, both contain sporadic clusters of revertant fibers (RFs) that express dystrophin. RF clusters expand in size with age in mdx mice...
  91. ncbi Duchenne muscular dystrophy-rhabdomyosarcoma, ichthyosis vulgaris/acute monoblastic leukemia: association of rare genetic disorders and childhood malignant diseases
    Zsuzsanna Jakab
    Department of Pediatrics, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    Med Pediatr Oncol 39:66-8. 2002
  92. ncbi Longitudinal data analysis: an application to construction of a natural history profile of Duchenne muscular dystrophy
    S A Hyde
    Institute for Neuromuscular Diseases, Muskelsvindfonden, Aarhus, Denmark
    Neuromuscul Disord 11:165-70. 2001
    A 30-month prospective study of 27 Scandinavian boys with confirmed diagnosis of Duchenne muscular dystrophy was carried out to construct profiles of the natural history of the disease...
  93. ncbi Cells of extraembryonic mesodermal origin confer human dystrophin in the mdx model of Duchenne muscular dystrophy
    Yayoi Kawamichi
    Department of Reproductive Biology, National Institute for Child Health and Development, Tokyo, Japan
    J Cell Physiol 223:695-702. 2010
    b>Duchenne muscular dystrophy is an X-linked recessive genetic disease characterized by severe skeletal muscular degeneration...
  94. ncbi Cause of progression in Duchenne muscular dystrophy: impaired differentiation more probable than replicative aging
    K Oexle
    Abteilung für Stoffwechsel und Molekulare Pädiatrie, Kinderspital, Universitat Zurich, Switzerland
    Neuropediatrics 32:123-9. 2001
    ..satellite cells) owing to enhanced myofiber turnover is a common explanation of the progression of Duchenne muscular dystrophy (DMD)...
  95. ncbi Air stacking and chest compression increase peak cough flow in patients with Duchenne muscular dystrophy
    Magneide Fernandes Brito
    Sleep Medicine and Biology Division of the Psychobiology Department of the Universidade Federal de São Paulo UNIFESP, Federal University of São Paulo São Paulo, Brazil
    J Bras Pneumol 35:973-9. 2009
    ..To evaluate cough efficiency using two manually-assisted cough techniques...
  96. ncbi Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis
    O Yilmaz
    Hacettepe University School of Physiotherapy, Ankara, Turkey
    Eur J Neurol 11:541-4. 2004
    Steroids may have a beneficial effect on the course of Duchenne muscular dystrophy (DMD). However, results vary in different studies. This study consisted of 66 DMD boys who were in the therapy group and 22 DMD boys in the control group...
  97. pmc Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
    Ronald D Cohn
    McKusick Nathans Institute of Genetic Medicine, Baltimore, Maryland 21205, USA
    Nat Med 13:204-10. 2007
    ..Moreover, we show TGF-beta-induced failure of muscle regeneration and a similar therapeutic response in a dystrophin-deficient mouse model of Duchenne muscular dystrophy.
  98. ncbi Prevention of pathology in mdx mice by expression of utrophin: analysis using an inducible transgenic expression system
    S Squire
    MRC Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford, OX1 3QX, UK
    Hum Mol Genet 11:3333-44. 2002
    b>Duchenne muscular dystrophy results from the absence of dystrophin, a cytoskeletal protein...
  99. ncbi Duchenne muscular dystrophy: the effect of glucocorticoids on ventilator use and ambulation
    John R Bach
    Department of Physical Medicine and Rehabilitation, University Hospital, UMDNJ The New Jersey Medical School, Newark, 07103, USA
    Am J Phys Med Rehabil 89:620-4. 2010
    ..To describe the effect of glucocorticoid treatment on age at wheelchair dependence and at dependence on part-time (<23 hrs/day) and continuous noninvasive mechanical ventilation...
  100. ncbi Prednisone 10 days on/10 days off in patients with Duchenne muscular dystrophy
    Chiara S M Straathof
    Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands
    J Neurol 256:768-73. 2009
    Corticosteroids are effective in improving motor function in Duchenne muscular dystrophy (DMD) patients within 6 months-2 years of treatment initiation, but there is as yet no consensus on which treatment scheme is the best...
  101. ncbi Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy
    Larry W Markham
    Monroe Carell, Jr Children s Hospital Vanderbilt University, Division of Pediatric Cardiology, 2200 Children s Way, Suite 5230, Nashville, TN 37232, USA
    Neuromuscul Disord 18:365-70. 2008
    b>Duchenne muscular dystrophy (DMD) is characterized by a predictable decline in cardiac function with age that contributes to early death...

Research Grants70

  1. Stem Cell Therapy for Myopathy
    Gregory Wallace; Fiscal Year: 2007
    ..b>Duchenne Muscular Dystrophy and a subset of the Limb Girdle Muscular Dystrophies are caused by mutations in dystrophin and ..
  2. Infant Screening and Diagnosis of Duchenne Muscular Dys*
    Paul Fernhoff; Fiscal Year: 2007
    ..at the time of birth does not provide the optimum timing for discussion of all the parameters around Duchenne Muscular Dystrophy (DMD) testing, nor does it provide the best opportunity for obtaining informed consent...
  3. MR Monitoring of PTC124 Treatment in DMD
    KRISTA H VANDENBORNE; Fiscal Year: 2010
    ..whether or not new therapies are effective in correcting the disease process in muscles of boys with Duchenne muscular dystrophy (DMD) without the need to take muscle biopsies...
  4. Role of murine induced pluripotent stem cells on the correction of cardiac and sk
    Diego Fraidenraich; Fiscal Year: 2010
    ..The ES cells can also rescue muscular dystrophy when injected into mdx (a mouse model of Duchenne muscular dystrophy, DMD) blastocysts...
  5. Intravenous Protein Therapy for Myotonic Dystrophy Type 1
    Richard Weisbart; Fiscal Year: 2010
    ..therapies would represent a versatile approach to treat many myopathies, including DM1, DM2, Duchenne muscular dystrophy and Emery-Dreifuss syndrome...
  6. Planning a Multicenter Trial of PDE5A Inhibition for Duchenne Muscular Dystrophy
    Ronald G Victor; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD) is a devastating X-linked muscle-wasting disease for which there is as yet no specific treatment...
  7. Intravenous Protein Therapy for Treatment of Congenital Muscular Dystrophy
    Bradley L Hodges; Fiscal Year: 2010
    ..that a single intramuscular or systemic dose of a laminin isoform to mdx mice, the mouse model of Duchenne muscular dystrophy, distributed to all skeletal and cardiac muscles, remained localized around myofibers for at least 4 ..
  8. Excitation-contraction Coupling in Normal and Dystrophic Mammalian Muscle
    Julio L Vergara; Fiscal Year: 2013
    ..for the impairment of Ca2+ release in mdx mice (Aim 1), the most prevalently used animal model for Duchenne Muscular Dystrophy (DMD), which lacks dystrophin in the DGC...
  9. Dual AAV Vectors for Duchenne Muscular Dystrophy Therapy
    Dongsheng Duan; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Dystrophin gene mutations lead to Duchenne muscular dystrophy (DMD), a severe muscle disease that affected nearly all muscles in the body. A cure for DMD requires body-wide therapy...
  10. Targeting fibrocytes in Duchenne muscular dystrophy
    Lan Zhou; Fiscal Year: 2013
    ..It directly leads to muscle dysfunction and clinical muscle weakness. Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease with no cure at this point...
  11. Phase 2a Study of Ataluren in Hemophilia A and B (IND 104,321)
    JAY A BARTH; Fiscal Year: 2010
    ..codons is documented by Phase 2a data in patients with nonsense-mutation-mediated cystic fibrosis and Duchenne muscular dystrophy;pivotal, controlled studies to confirm clinical benefit in these diseases are ongoing...
  12. Telomere extension using nucleoside-modified mRNA and exosomes as a novel therape
    Helen M Blau; Fiscal Year: 2013
    ..Short telomere length has been linked to many diseases, including, in our labs, Duchenne muscular dystrophy (DMD) and vascular disease, which includes atherosclerosis, vascular dementia, and heart disease...
  13. Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
    KRISTA H VANDENBORNE; Fiscal Year: 2013
    ..MRS) to monitor disease progression and to serve as a surrogate outcome measure for clinical trials in Duchenne muscular dystrophy (DMD)...
  14. Role of ERK1/2 in Neuromuscular Synapses and Myofiber Development in vivo
    Mendell Rimer; Fiscal Year: 2013
    ..NMJs display fragmentation similar to than seen in NMJs of old mice or in mdx mice, which model Duchenne muscular dystrophy. The aim of this R21 application is to investigate the significance in vivo of ERK1/2 for neuromuscular ..
  15. Hit to Lead Optimization of Small Molecule Therapeutics for Muscular Dystrophy
    Bradley L Hodges; Fiscal Year: 2010
    ..so-called "booster genes" such as utrophin, alpha7 integrin and GALGT are among the approaches to treat Duchenne muscular dystrophy (DMD)...
  16. Identification of Enhancers of Therapeutic Exon Skipping for DMD
    MELISSA JAN SPENCER; Fiscal Year: 2010
    ..b>Duchenne Muscular Dystrophy (DMD) is the most common lethal genetic disease of childhood, occurring in 1 in every 3500 live male ..
  17. DP ARF Ultrasound for Monitoring Muscle Degeneration in Duchenne Muscular Dystrop
    Caterina M Gallippi; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): In Duchenne muscular dystrophy (DMD), an X-linked recessive disorder affecting approximately 1 of 3,500 newborn human males, skeletal and cardiac muscles progressively degenerate and are replaced by ..
  18. Golgi-associated NO-cGMP Signaling Defect in Muscular Dystrophy
    Gail D Thomas; Fiscal Year: 2013
    The mechanism by which the loss of dystrophin leads to Duchenne Muscular Dystrophy is generally attributed to membrane fragility due to disruption of the linkage between the extracellular matrix and the cortical actin cytoskeleton...
  19. ACTIVATORS OF MUSCLE GENES
    Helen M Blau; Fiscal Year: 2013
    ..upon transplantation, as evidenced by failures in myoblast-based clinical trials for the treatment of Duchenne Muscular Dystrophy (DMD)...
  20. Clinically Meaningful Outcomes for Duchenne Muscular Dystrophy Therapeutic Trials
    Craig M McDonald; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by mutation of the dystrophin gene with resultant progressive muscle weakness, leading to death usually by young ..
  21. Protein Therapeutics for Muscular Dystrophy
    Norio Takizawa; Fiscal Year: 2010
    ..Several other forms of muscular dystrophy, including Duchenne muscular dystrophy and dystrophy arising from mutations in the dystroglycan complex have been linked to membrane fragility...
  22. Myogenic stem cells in extraocular muscles
    Zipora Yablonka-Reuveni; Fiscal Year: 2013
    ..In Duchenne muscular dystrophy and in animal models of this devastating dystrophin deficiency-associated disease, EOMs are spared, ..
  23. Signaling Mechanisms of the Dystrophin-Glycoprotein Complex
    Andrea Arnett; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder in children, is a severe muscle-wasting disease caused by mutations in the dystrophin gene...
  24. Comprehensive mutation detection for Neuromuscular disorders: Bringing new techno
    Madhuri R Hegde; Fiscal Year: 2010
    ..of diseases such as Limb-Girdle Muscular Dystrophies (LGMD), Congenital Muscular Dystrophies (CMD), Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA) and Charcot-Marie-Tooth disease (CMT)...
  25. Dystrophin Function in Aging Heart
    JOSEPH MARK METZGER; Fiscal Year: 2013
    ..Dystrophin deficiency is associated with myocardial ischemia and heart failure and causes Duchenne Muscular Dystrophy (DMD), a fatal disease of progressive striated muscle deterioration...
  26. Nitric oxide pathway requirement for the correction of cardiomyopathy in muscular
    James Patrick Gonzalez; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD) is an incurable, rapidly-worsening neuromuscular degenerative disease that affects nearly one in every 3,600 male infants (MedlinePlus-NIH)...
  27. NF-kappaB signaling in dystrophic cardiomyopathy
    Jennifer M Peterson; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD) is a deadly childhood disease that affects both skeletal and cardiac muscles and for which there is no effective treatment or cure...
  28. Mitochondria and calcium signaling in skeletal muscle
    NATALIA V SHIROKOVA; Fiscal Year: 2012
    ..in skeletal muscle and alterations in Ca2+ homeostasis are associated with human diseases such as Duchenne Muscular Dystrophy (DMD), Malignant Hyperthermia (MH) and Central Core Disease (CCD)...
  29. Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy
    Subha V Raman; Fiscal Year: 2013
    ..applicant): Progress in treating pulmonary and other complications of striated muscle deterioration in Duchenne muscular dystrophy (DMD) patients has made cardiomyopathy a leading cause of mortality...
  30. CSHL RNA &Oligonucleotide Therapeutics Conference
    David J Stewart; Fiscal Year: 2013
    ..will in time lead to better and more targeted therapies against major neurological diseases, including Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, frontotemporal dementia, familial dysautonomia ..
  31. Assembly of the Dystrophin-Glycoprotein Complex
    Jeffrey S Chamberlain; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene. Dystrophin is a cytoskeletal protein that plays an essential role is assembling the dystrophin-glycoprotein complex...
  32. Treatment of Muscular Dystrophy-associated Dilated Cardiomyopathy with P-188
    Bruce E Markham; Fiscal Year: 2012
    ..P- 188) for the prevention and treatment of dilated cardiomyopathy (DCM) and heart failure (HF) in Duchenne muscular dystrophy (DMD) patients...
  33. Evaluating the efficiency and specificity of stop codon suppression therapy
    Michael T Howard; Fiscal Year: 2013
    ..arising from stop codon suppression therapies in a mouse genetic (stop codon mutation) model of Duchenne Muscular Dystrophy. In aim 2 we will apply this methodology to primary cultured cells treated with stop codon suppression ..
  34. Preclinical Testing of Integrin Enhancing Molecules for the Treatment of Muscular
    Dean J Burkin; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Duchenne Muscular Dystrophy (DMD) is a lethal muscle wasting disease for which there is currently no cure or effective treatment...
  35. Reducing skeletal muscle fibrosis in DMD with AAV-delivered miR-29
    JAMES ERIC MEADOWS; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD) is an X-linked, inherited disease affecting 1 in 3500 live newborn males...
  36. DYSTROPHIN REPLACEMENT IN MDX MICE
    Jeffrey S Chamberlain; Fiscal Year: 2013
    b>Duchenne muscular dystrophy (DMD) is inherited in a recessive pattern, suggesting that gene therapy could offer an effective treatment if methods can be found to replace the gene in striated muscles throughout the body...
  37. Development of Novel Upper Extremity Outcome Measures Using 3D-Vision Technology
    Jay Han; Fiscal Year: 2013
    ..will provide test-bed cases across the life spectrum and varying degrees of upper limb dysfunction: Duchenne muscular dystrophy (DMD) and Facioscapulohumeral dystrophy (FSHD)...
  38. Structure-Function Analysis of Sarcospan
    RACHELLE HOPE CROSBIE-WATSON; Fiscal Year: 2013
    ..b>Duchenne muscular dystrophy, the most common form of dystrophy, is caused by mutations in the dystrophin gene that result in loss ..
  39. Biophysical Basis of Muscle Functional MRI
    Bruce M Damon; Fiscal Year: 2013
    ..proposed studies, we will advance these techniques further and then bring them to bear on Becker and Duchenne muscular dystrophy. These are severe neuromuscular disorders characterized by a missing or dysfunctional form of the ..
  40. Tuning aminoglycosides for treatment of genetic diseases
    Timor Baasov; Fiscal Year: 2013
    ..and several where shown to account for certain cases of fatal diseases, including cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), Tay-Sachs, and more. For many of those diseases there is presently no effective treatment...
  41. Calcium and oxidative stress in muscular dystrophy
    Rainer Ng; Fiscal Year: 2012
    b>Duchenne muscular dystrophy (DMD) is a lethal genetic disease that affects 1 in 3,500 boys...
  42. Pediatric toxicity and efficacy in long-term systemic treatment with anti-sense
    JOHANNES NICOLAAS VAN DEN ANKER; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy is the most common monogenic pediatric inborn error, affecting one in 3,500 live born males world-wide...
  43. The RNA-activation platform to treat X-linked disease in a locus-specific manner.
    Jeannie T Lee; Fiscal Year: 2013
    ..to cure dozens of intractable X-linked diseases such as Rett syndrome, Fragile X syndrome, and Duchenne muscular dystrophy. In the pharmaceutical industry, current therapeutic strategies focus almost exclusively on protein and ..
  44. PRECLINICAL GENE THERAPY STUDIES IN CANINE MUSCULAR DYSTROPHY
    Stephen J Tapscott; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne Muscular Dystrophy (DMD) in both humans and dogs is a fatal, X-linked, recessive muscle disease caused by lack of dystrophin due to deletions or mutations in the dystrophin gene...
  45. Development of a Porcine Model of Duchenne Muscular Dystrophy
    Christopher Rogers; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Project Summary/Abstract Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the DMD gene with a prevalence of 1 in 3500 male births...
  46. NF-kappaBeta Therapy for Duchenne Muscular Dystrophy
    Denis C Guttridge; Fiscal Year: 2012
    b>Duchenne Muscular Dystrophy (DMD) is the most frequent of all lethal X linked recessive disorders occurring n 1 of 3,500 boys...
  47. Biomarker discovery and validation in a Duchenne dystrophy natural history study
    Craig M McDonald; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by mutation of the dystrophin gene with resultant progressive muscle weakness, leading to death usually by young ..
  48. Genetically Engineered Muscle Stem Cell Transplantation for Muscular Dystrophy...
    Atsushi Asakura; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne Muscular Dystrophy (DMD) is caused by mutations in the gene coding for dystrophin, which functions to maintain muscle fiber structure and function, preventing it from being damaged by muscle ..
  49. Electrical Impedance Myography in an Animal Model
    Seward B Rutkove; Fiscal Year: 2013
    ..In Specific Aim 3, we will study EIM in the MDx mouse model of Duchenne muscular dystrophy, in which there are marked structural and compositional changes in muscle...
  50. Stretch-dependent X-ROS signaling: implications for cardiomyopathy
    BENJAMIN LEARS PROSSER; Fiscal Year: 2013
    ..g. Duchenne muscular dystrophy) and can trigger Ca2+-dependent arrhythmias...
  51. The Relationship between Genomic Variants and MRI/MRS Markers in DMD
    Glenn Walter; Fiscal Year: 2013
    ..b>Duchenne muscular dystrophy (DMD) is one of the most devastating genetically linked neuromuscular diseases and affects one in 3,500-..
  52. Stretch-Dependent Calcium Signaling in Heart
    WILLIAM JONATHAN LEDERER; Fiscal Year: 2013
    ..heart cells from control mice, but at a much higher rate in myocytes from mdx mice, the murine model of Duchenne muscular dystrophy, or from control mice with excessive calcium in the SR...
  53. Integrin Alleviation of Muscular Dystrophy
    Dean J Burkin; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Duchenne Muscular Dystrophy (DMD) is a devastating lethal muscle wasting disease that affects nearly 50,000 patients in the US alone and for which there is no effective treatment or cure...
  54. Systemic molecular therapy for muscular dystrophy
    Hansell H Stedman; Fiscal Year: 2013
    ..The overall aim of this project is to address a key rate-limiting step in the development of therapy for Duchenne Muscular Dystrophy: systemic gene "delivery"...
  55. Mechanisms and therapies for respiratory muscle failure
    Ahlke Heydemann; Fiscal Year: 2013
    ..In Duchenne Muscular dystrophy, respiratory muscle function is lost by the age of 20 necessitating pulmonary support...
  56. Targeted Inhibition of NMD to Enhance the Efficacy of Readthrough Drugs
    Adrian R Krainer; Fiscal Year: 2013
    ..nonsense alleles of CFTR, MECP2, DMD, and HBB genes, which cause cystic fibrosis, Rett syndrome, Duchenne muscular dystrophy, and beta-thalassemia, respectively...
  57. SARCOGLYCAN IN MYOPATHY AND MUSCLE MEMBRANE STABILITY
    Elizabeth M McNally; Fiscal Year: 2013
    ..The sarcoglycan complex interacts with dystrophin, the protein product of the Duchenne Muscular Dystrophy gene, to connect the cytoskeleton to the membrane and the extracellular matrix...
  58. Coronary Regulation in Dystrophic Cardiomyopathy
    DeWayne Townsend; Fiscal Year: 2013
    ..The experiments proposed here focus on models of Duchenne muscular dystrophy and limb girdle muscular dystrophy (2C and 2F)...
  59. A new DMD model with a humanized glycome
    PAUL TAYLOR MARTIN; Fiscal Year: 2013
    ..an important human-specific change in glycosylation, the loss of N-glycolylneuraminic acid (Neu5Gc), in Duchenne muscular dystrophy (DMD) and in Limb Girdle Muscular Dystrophy 2D...
  60. Characterization of a novel translational model for Becker muscular dystrophy
    Joshua T Selsby; Fiscal Year: 2013
    ..b>Duchenne muscular dystrophy (DMD) is caused by expression of a nonfunctional dystrophin protein product while Becker muscular ..
  61. Diverse Strategies to Correct the Dystrophin Gene Using Vascular Delivery (U54)
    JERRY ROY MENDELL; Fiscal Year: 2010
    ..proposal is that clinically meaningful results can be achieved by vascular delivery in patients with Duchenne muscular dystrophy (DMD)...
  62. Center for Research Translation of Systemic Exon-skipping in Muscular Dystrophy
    Eric P Hoffman; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The identification of the Duchenne muscular dystrophy gene and protein in the late 1980's led to high hopes of rapid translation to rational therapeutics...
  63. Comprehensive Assessment of the Impact of Illness and Disability in Children
    ROXANNA MARIE BENDIXEN; Fiscal Year: 2013
    ..participation, quality of life, pathophysiology, muscle strength, and functional ability in boys with Duchenne Muscular Dystrophy (DMD) compared to healthy age-matched boys;2) Determine the relationships between activity, ..
  64. Intravenous Protein Therapy for the Treatment of Duchenne Muscular Dystrophy
    BRADLEY HODGES; Fiscal Year: 2009
    Our objective is to develop an intravenously delivered protein therapy for treatment of Duchenne muscular dystrophy (DMD), a disease that occurs in 1 of every 3500 male births...
  65. Myogenic Potential of Extraocular Muscle Satellite Cells
    Linda K McLoon; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): The extraocular muscles (EOM) are spared in Duchenne muscular dystrophy patients (DMD) and continue to function after most skeletal muscles in the body have completely degenerated...
  66. Dystrophin restoration in two animal models of Duchenne Muscular Dystrophy
    LOUISE RODINO; Fiscal Year: 2009
    We are developing a gene based therapeutic for boys with Duchenne muscular dystrophy (DMD). DMD only affects boys since it is on the X-chromosome which determines the sex of the baby...
  67. THREE DIMENSIONAL STRUCTURE OF ALPHA ACTININ
    Kenneth Taylor; Fiscal Year: 2000
    ..disease nemaline myopathy, while defects in the closely related molecule dystrophin cause the disease Duchenne muscular dystrophy. There is very little 3-D structural information available for these molecules...
  68. Implementing Newborn Screening for Duchenne Muscular Dystrophy in the Community
    Jerry Mendell; Fiscal Year: 2009
    ..a cooperative agreement with the CDC, the critical groundwork for a newborn screening program (NBS) for Duchenne muscular dystrophy (DMD) was established and included: the range of creatine kinase (CK) observed on >30,000 anonymous ..
  69. CHILD MOBILITY: ROLE OF STRENGTH, BODY FAT & ENERGY COST
    CRAIG MC DONALD; Fiscal Year: 2000
    ..of mobility impairment due to myelomeningocele (MM), spinal cord injury (SCI), cerebral palsy (CP), and Duchenne Muscular dystrophy (DMD)...
  70. Gene Therapy for Muscular Dystrophy
    Hengjun Chao; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD) is an X-linked recessive muscular disease resulting from mutation of dystrophin gene...