M C Dalakas

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    N Engl J Med 342:770-80. 2000
  2. ncbi request reprint Intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: present status and practical therapeutic guidelines
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4N248, 10 Center Drive MSC 1382, Bethesda, Maryland 20892 1382, USA
    Muscle Nerve 22:1479-97. 1999
  3. ncbi request reprint Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation
    K Sivakumar
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Neurology 46:1337-42. 1996
  4. ncbi request reprint Missense mutations in desmin associated with familial cardiac and skeletal myopathy
    L G Goldfarb
    Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland 20892, USA
    Nat Genet 19:402-3. 1998
  5. pmc Desmin splice variants causing cardiac and skeletal myopathy
    K Y Park
    Clinical Neurogenetics Unit and Neuromuscular Disorders Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
    J Med Genet 37:851-7. 2000
  6. pmc Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
    L Fananapazir
    Cardiology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 90:3993-7. 1993
  7. ncbi request reprint Stiff person syndrome: quantification, specificity, and intrathecal synthesis of GAD65 antibodies
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, NIH, Bethesda, MD 20892 1382, USA
    Neurology 57:780-4. 2001
  8. ncbi request reprint Desmin myopathy
    L G Goldfarb
    National Institutes of Health, Bethesda, MD 20892 1361, USA
    Brain 127:723-34. 2004
  9. ncbi request reprint Mitochondrial myopathy caused by long-term zidovudine therapy
    M C Dalakas
    Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    N Engl J Med 322:1098-105. 1990
  10. ncbi request reprint Polymyositis in patients infected with human T-cell leukemia virus type I: the role of the virus in the cause of the disease
    M Leon Monzon
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    Ann Neurol 36:643-9. 1994

Collaborators

Detail Information

Publications34

  1. ncbi request reprint Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    N Engl J Med 342:770-80. 2000
    ..Skeletal and cardiac myopathy develops in mice that lack desmin, suggesting that mutations in the desmin gene may be pathogenic...
  2. ncbi request reprint Intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: present status and practical therapeutic guidelines
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4N248, 10 Center Drive MSC 1382, Bethesda, Maryland 20892 1382, USA
    Muscle Nerve 22:1479-97. 1999
    ..Finally, safety issues, risk factors, adverse reactions, spurious results or serological tests, and practical guidelines associated with the administration of IVIg in the treatment of neuromuscular disorders are presented...
  3. ncbi request reprint Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation
    K Sivakumar
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Neurology 46:1337-42. 1996
    ..Partial enzyme deficiency in two successive generations suggests a unique molecular mechanism...
  4. ncbi request reprint Missense mutations in desmin associated with familial cardiac and skeletal myopathy
    L G Goldfarb
    Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland 20892, USA
    Nat Genet 19:402-3. 1998
    ..Compound heterozygosity for two other mutations, A360P and N393I, was detected in a second family characterized by childhood-onset aggressive course of cardiac and skeletal myopathy...
  5. pmc Desmin splice variants causing cardiac and skeletal myopathy
    K Y Park
    Clinical Neurogenetics Unit and Neuromuscular Disorders Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
    J Med Genet 37:851-7. 2000
    ..This is the first report on the pathogenic potentials of splice site mutations in the desmin gene...
  6. pmc Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
    L Fananapazir
    Cardiology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 90:3993-7. 1993
    ..This work demonstrates that (i) MYH7-associated HCM is often a disease of striated muscle but with predominant cardiac involvement and (ii) a subset of HCM patients with MYH7 gene missense mutations have CCD...
  7. ncbi request reprint Stiff person syndrome: quantification, specificity, and intrathecal synthesis of GAD65 antibodies
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, NIH, Bethesda, MD 20892 1382, USA
    Neurology 57:780-4. 2001
    ..To characterize the specificity of anti-GAD(65) antibodies in patients with stiff person syndrome (SPS), quantify antibody titers, and examine antibody production within the CNS...
  8. ncbi request reprint Desmin myopathy
    L G Goldfarb
    National Institutes of Health, Bethesda, MD 20892 1361, USA
    Brain 127:723-34. 2004
    ..Better understanding of disease pathogenesis would stimulate research focused on developing specific treatments for these conditions...
  9. ncbi request reprint Mitochondrial myopathy caused by long-term zidovudine therapy
    M C Dalakas
    Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    N Engl J Med 322:1098-105. 1990
    ....
  10. ncbi request reprint Polymyositis in patients infected with human T-cell leukemia virus type I: the role of the virus in the cause of the disease
    M Leon Monzon
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    Ann Neurol 36:643-9. 1994
    ..abstract truncated at 250 words)..
  11. ncbi request reprint High-dose intravenous immune globulin for stiff-person syndrome
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    N Engl J Med 345:1870-6. 2001
    ..Because stiff-person syndrome is most likely immune-mediated, we evaluated the efficacy of intravenous immune globulin...
  12. ncbi request reprint A controlled study of intravenous immunoglobulin combined with prednisone in the treatment of IBM
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Neurology 56:323-7. 2001
    ..CONCLUSION: IVIg combined with prednisone for a 3-month period was not effective in IBM. Endomysial inflammation was significantly reduced after treatment, but the reduction was not of clinical significance...
  13. ncbi request reprint Viruses in idiopathic inflammatory myopathies: absence of candidate viral genomes in muscle
    R L Leff
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
    Lancet 339:1192-5. 1992
    ..Persistence in muscle of these or closely related viruses is unlikely to be a continuing stimulus for disease in the idiopathic inflammatory myopathies...
  14. ncbi request reprint Mitochondrial alterations with mitochondrial DNA depletion in the nerves of AIDS patients with peripheral neuropathy induced by 2'3'-dideoxycytidine (ddC)
    M C Dalakas
    Neuromuscular Diseases SectionNational Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Lab Invest 81:1537-44. 2001
    ....
  15. ncbi request reprint The molecular pathophysiology in inflammatory myopathies
    M C Dalakas
    Neuromuscular Diseases Section, NINDS, National Institutes of Health, NIH, National Institute of Neurological Diseases and Stroke, 10 Center Drive, MSC 1382, Building 10, Room 4N248, Bethesda, MD 20892 1382, USA
    Rev Med Interne 25:S14-6. 2004
  16. ncbi request reprint Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations
    M Li
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, National Institute of Health, Bethesda, MD 20892-1382, USA
    Ann Neurol 49:532-6. 2001
    ..We conclude that mutant desmin forms insoluble aggregates that are specific for the DesM and can be detected with Western blots...
  17. ncbi request reprint T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis
    M Salajegheh
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Neurology 69:1672-9. 2007
    ..Sporadic IBM (sIBM) is characterized by invasion of non-necrotic MHC-I class-expressing muscle fibers by clonally expanded CD8+ cells. Whether the endomysial cells expand in situ or are recruited from the circulation is unclear...
  18. ncbi request reprint The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acid
    L M Levy
    Neuroimaging Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Ann Intern Med 131:522-30. 1999
    ..Results of an ongoing controlled trial will elucidate the role of these agents in the treatment of the disease...
  19. ncbi request reprint Autoimmune autonomic failure in a patient with myeloma-associated Shy-Drager syndrome
    D S Goldstein
    Clinical Neuroscience Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
    Clin Auton Res 6:17-21. 1996
    ..Since in this case the monoclonal antibody produced by the myeloma bound specifically to LC cells, the results are consistent with the hypothesis that in this patient the Shy-Drager syndrome may have had an immune-mediated basis...
  20. pmc Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease
    O Vasconcelos
    Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 92:10322-6. 1995
    ..Transcripts with and without intron 10 arising from identical mutant alleles probably resulted from differential pre-mRNA processing and may represent a novel message from the PFKM gene...
  21. ncbi request reprint Immune-mediated mechanisms and immune activation of fibroblasts in the pathogenesis of eosinophilia-myalgia syndrome induced by L-tryptophan
    I Illa
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD
    Hum Pathol 24:702-9. 1993
    ..Because the fibroblasts are activated and aberrantly express DR antigen, they may be the target cells playing a role in the continuing clinical and histologic signs of tissue sclerosis...
  22. ncbi request reprint High-dose intravenous immunoglobulin in inflammatory myopathies: experience based on controlled clinical trials
    M C Dalakas
    Neuromuscular Diseases, Section National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD 20892 1382, USA
    Neurol Sci 24:S256-9. 2003
    ..Because PM, as a stand-alone clinical entity, is a very rare disease, completion of controlled trials will be very difficult...
  23. ncbi request reprint Peripheral neuropathy and antiretroviral drugs
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1382, USA
    J Peripher Nerv Syst 6:14-20. 2001
    ..They have produced in humans a new category of acquired mitochondrial toxins that cause clinical manifestations resembling the genetic mitochondrial disorders...
  24. ncbi request reprint The molecular and cellular pathology of inflammatory muscle diseases
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders, National Institutes of Health, Bethesda, MD 20892 1382, USA
    Curr Opin Pharmacol 1:300-6. 2001
    ....
  25. ncbi request reprint Understanding the immunopathogenesis of inclusion-body myositis: present and future prospects
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA
    Rev Neurol (Paris) 158:948-58. 2002
    ..The treatment approaches and the prospects for future immunotherapeutic interventions are discussed...
  26. ncbi request reprint Autoimmune muscular pathologies
    M C Dalakas
    Neuromuscular Diseases Section, NINDS, Bethesda, MD, USA
    Neurol Sci 26:S7-8. 2005
    ..The management of autoimmune myopathies with the presently available immunotherapeutic agents as well as new therapies and ongoing trials are discussed...
  27. ncbi request reprint Update on the molecular pathogenesis of inflammatory myopathies
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD NINDS, NIH, Building 10, Room 4N248, 10 Center Dr MSC 1382, Bethesda, MD 20892 1382
    Autoimmun Rev 3:S37-9. 2004
  28. ncbi request reprint Modafinil for treatment of fatigue in post-polio syndrome: a randomized controlled trial
    O M Vasconcelos
    Department of Neurology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA
    Neurology 68:1680-6. 2007
    ..To determine if modafinil can improve fatigue in patients with post-polio syndrome...
  29. ncbi request reprint Increased brainstem excitability in stiff-person syndrome
    F M Molloy
    Electromyography Section, National Institute of Neurological Disorders and Stroke NIH, Building 10, Rm 5C101, 10 Center Drive, MSC 1428, Bethesda, MD 20892 1428, USA
    Neurology 59:449-51. 2002
    ..Hyperexcitability may result from abnormal input from suprasegmental structures or loss of inhibition by interneurons and is compatible with the proposal that there is a widespread dysfunction of central inhibitory mechanisms in SPS...
  30. ncbi request reprint Update on idiopathic inflammatory myopathies
    C Briani
    University of Padova, Department of Neurosciences, Padova, Italy
    Autoimmunity 39:161-70. 2006
    ..This article summarizes the main clinical, laboratory, electrophysiological, immunological and histologic features as well as the therapeutic options of the inflammatory myopathies...
  31. ncbi request reprint Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    K Poetter
    Inherited Cardiac Diseases Section, NHLBI, NIH Bethesda, Maryland 20892 1650, USA
    Nat Genet 13:63-9. 1996
    ....
  32. ncbi request reprint MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis
    G W Abbott
    Departments of Pediatrics and Cellular, Molecular Physiology, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, CT 06536, USA
    Cell 104:217-31. 2001
    ..Mutant MiRP2-Kv3.4 complexes exhibit reduced current density and diminished capacity to set RMP. Thus, MiRP2 operates with a classical potassium channel subunit to govern skeletal muscle function and pathophysiology...
  33. ncbi request reprint Skin involvement and outcome measures in systemic autoimmune diseases
    J Albrecht
    Department of Dermatology, University of Pennsylvania, Philadelphia, USA
    Clin Exp Rheumatol 24:S52-9. 2006
    ..The most typical skin manifestations are nodular lesions, which are commonly seen in BS and may be due to panniculitis [erythema nodosum (EN)-like lesions] or superficial thrombophlebitis...
  34. ncbi request reprint Correlating phenotype and genotype in the periodic paralyses
    T M Miller
    Department of Neurology, University of California San Francisco 94143 2922, USA
    Neurology 63:1647-55. 2004
    ....