Marinos C Dalakas

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi 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
  2. ncbi Polymyositis and dermatomyositis
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    Lancet 362:971-82. 2003
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi The role of IVIg in the treatment of patients with stiff person syndrome and other neurological diseases associated with anti-GAD antibodies
    Marinos C Dalakas
    Neuromuscular Diseases Section, NINDS, National Institutes of Health Building 10, 10 Center Drive MSC 1382, Bethesda, MD 20892 1382, USA
    J Neurol 252:I19-25. 2005
  7. ncbi Autoimmune muscular pathologies
    M C Dalakas
    Neuromuscular Diseases Section, NINDS, Bethesda, MD, USA
    Neurol Sci 26:S7-8. 2005
  8. ncbi Inhibiting leukocyte recruitment to the brain by IVIg: is it relevant to the treatment of demyelinating CNS disorders?
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4N248, 10 Center Dr MSC 1382 Bethesda, MD 20892 1382 USA
    Brain 127:2569-71. 2004
  9. ncbi Inflammatory disorders of muscle: progress in polymyositis, dermatomyositis and inclusion body myositis
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1382, USA
    Curr Opin Neurol 17:561-7. 2004
  10. ncbi The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profile
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, National Institutes of Health, MSC 1382, Room 4N248, Building 10, 10 Center Drive, Bethesda, MD 20892 1382, USA
    Pharmacol Ther 102:177-93. 2004

Collaborators

Detail Information

Publications98

  1. ncbi 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
  2. ncbi Polymyositis and dermatomyositis
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    Lancet 362:971-82. 2003
    ..Early initiation of therapy is essential, since both polymyositis and dermatomyositis respond to immunotherapeutic agents. New immunomodulatory agents currently being tested in controlled trials may prove promising for difficult cases...
  3. ncbi 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...
  4. ncbi 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
    ....
  5. ncbi 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...
  6. ncbi The role of IVIg in the treatment of patients with stiff person syndrome and other neurological diseases associated with anti-GAD antibodies
    Marinos C Dalakas
    Neuromuscular Diseases Section, NINDS, National Institutes of Health Building 10, 10 Center Drive MSC 1382, Bethesda, MD 20892 1382, USA
    J Neurol 252:I19-25. 2005
    ..SPS is the only GAD-positive CNS disease where a controlled study with immunotherapy has been conducted...
  7. ncbi 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...
  8. ncbi Inhibiting leukocyte recruitment to the brain by IVIg: is it relevant to the treatment of demyelinating CNS disorders?
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4N248, 10 Center Dr MSC 1382 Bethesda, MD 20892 1382 USA
    Brain 127:2569-71. 2004
  9. ncbi Inflammatory disorders of muscle: progress in polymyositis, dermatomyositis and inclusion body myositis
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1382, USA
    Curr Opin Neurol 17:561-7. 2004
    ..To provide an update on the major advances in inflammatory myopathies...
  10. ncbi The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profile
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, National Institutes of Health, MSC 1382, Room 4N248, Building 10, 10 Center Drive, Bethesda, MD 20892 1382, USA
    Pharmacol Ther 102:177-93. 2004
    ..v.Ig with other immunosuppressive drugs...
  11. ncbi Muscle biopsy findings in inflammatory myopathies
    Marinos 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, MD 20892 1382, USA
    Rheum Dis Clin North Am 28:779-98, vi. 2002
    ..This article summarizes the main histologic features that characterize PM, DM, or IBM and emphasizes the main pitfalls associated with interpretation of the biopsies...
  12. ncbi Intravenous immunoglobulin in autoimmune neuromuscular diseases
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
    JAMA 291:2367-75. 2004
    ..These mechanisms may explain the effectiveness of IVIG in autoimmune neuromuscular disorders...
  13. ncbi Molecular pathogenesis of inflammatory myopathies and future therapeutic strategies
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    Suppl Clin Neurophysiol 57:288-303. 2004
  14. ncbi Intravenous immunoglobulin in patients with anti-GAD antibody-associated neurological diseases and patients with inflammatory myopathies: effects on clinicopathological features and immunoregulatory genes
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Clin Rev Allergy Immunol 29:255-69. 2005
    ..In tissues, IVIg restores tissue cytoarchitecture by suppressing the inflammatory mediators at the protein, mRNA, and gene level...
  15. ncbi Inflammatory, immune, and viral aspects of inclusion-body myositis
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    Neurology 66:S33-8. 2006
    ..e., primary progressive MS), IBM is resistant to conventional immunotherapies. Recent data suggest that strong anti-T cell therapies can be promising and they are the focus of ongoing research...
  16. ncbi The role of high-dose immune globulin intravenous in the treatment of dermatomyositis
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4N248, Bethesda, MD 20892 1382, USA
    Int Immunopharmacol 6:550-6. 2006
    ..The study concluded that IVIg is an effective second-line therapy for patients with DM incompletely responding to steroids...
  17. ncbi 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
  18. ncbi Therapeutic targets in patients with inflammatory myopathies: present approaches and a look to the future
    Marinos C Dalakas
    Neuromuscular Diseases Section, NINDS, NIH, Building 10, Room 4N248, 10 Center Drive MSC 1382, Bethesda, MD 20892 1382, USA
    Neuromuscul Disord 16:223-36. 2006
  19. ncbi B cells in the pathophysiology of autoimmune neurological disorders: a credible therapeutic target
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    Pharmacol Ther 112:57-70. 2006
    ..Preliminary results from several clinical studies and case reports suggest that B cell depletion may become a viable alternative approach to the treatment of autoimmune neurological disorders...
  20. ncbi Advances in the immunobiology and treatment of inflammatory myopathies
    Marinos C Dalakas
    Neuromuscular Diseases Section, US National Institute of Neurological Disorders and Stroke, US National Institutes of Health, Building 10, Room 4N248, Bethesda, MD 20892, USA
    Curr Rheumatol Rep 9:291-7. 2007
    ..The clinical spectrum and immunopathogenesis of inflammatory myopathies are summarized with an update on possible triggering factors, cell degeneration, and emerging new therapies...
  21. ncbi Sporadic inclusion body myositis--diagnosis, pathogenesis and therapeutic strategies
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    Nat Clin Pract Neurol 2:437-47. 2006
    ..In spite of the brisk, antigen-driven T-cell infiltrates, sIBM does not respond to immunotherapies. New therapies using monoclonal antibodies against lymphocyte signaling pathways might prove helpful in arresting disease progression...
  22. ncbi Mechanisms of disease: signaling pathways and immunobiology of inflammatory myopathies
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    Nat Clin Pract Rheumatol 2:219-27. 2006
    ..Advances in our understanding of the signaling pathways involved in the pathogenesis of these inflammatory myopathies are expected to result in the identification of novel therapeutic targets for these diseases...
  23. ncbi Inclusion body myositis with human immunodeficiency virus infection: four cases with clonal expansion of viral-specific T cells
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    Ann Neurol 61:466-75. 2007
    ..The cause is unknown. We report the association of sIBM with human immunodeficiency virus (HIV) infection and explore the clonality and viral specificity of the autoinvasive T cells...
  24. ncbi Role of IVIg in autoimmune, neuroinflammatory and neurodegenerative disorders of the central nervous system: present and future prospects
    Marinos C Dalakas
    Neuromuscular Diseases Section, NINDS, National Institutes of Health, Building 10, Room 4N248, 10 Center Drive MSC, Bethesda, MD 20892 1382, USA
    J Neurol 253:V25-32. 2006
    ..Emerging data suggest that IVIg may have a role not only in certain antibody-mediated CNS diseases but also in some neurodegenerative disorders associated with "neuroinflammation" mediated by proinflammatory cytokines...
  25. ncbi Gene expression profile in the muscles of patients with inflammatory myopathies: effect of therapy with IVIg and biological validation of clinically relevant genes
    Raghavan Raju
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10 Room 4N252, 10 Center Drive, Bethesda, MD 20892, USA
    Brain 128:1887-96. 2005
    ..Gene arrays, when combined with clinical assessments, may provide important information in the pathogenesis of inflammatory myopathies...
  26. pmc Interrelation of inflammation and APP in sIBM: IL-1 beta induces accumulation of beta-amyloid in skeletal muscle
    Jens Schmidt
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
    Brain 131:1228-40. 2008
    ..The observations may help to design targeted treatment strategies for chronic inflammatory disorders of the skeletal muscle...
  27. ncbi Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy
    Emily Gottlieb
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD, USA
    Mol Genet Metab 86:244-9. 2005
    ..These data are valuable for future studies on the role of DAG1 in HIBM and other muscular dystrophies, especially those dystrophies that involve abnormal glycosylation of dystroglycan...
  28. ncbi Upregulated inducible co-stimulator (ICOS) and ICOS-ligand in inclusion body myositis muscle: significance for CD8+ T cell cytotoxicity
    Jens Schmidt
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Brain 127:1182-90. 2004
    ..The observations strengthen the immunopathogenesis of sIBM, and offer the basis for future therapeutic interventions targeting ICOS.ICOS-L co-stimulatory interactions...
  29. ncbi Advances in the pathogenesis and treatment of patients with stiff person syndrome
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Curr Neurol Neurosci Rep 8:48-55. 2008
    ..This review examines the diagnostic criteria for SPS, SPS variants, common errors in diagnosis, and a step-by-step therapeutic approach, including new advances in therapy...
  30. ncbi A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin
    Ayush Dagvadorj
    National Institute of Neurological Disorders and Stroke, National Institutes of Health Bldg 10, Room 4B37, 10 Center Dr, MSC 1361, Bethesda, Maryland 20892 1361, USA
    J Neurol 251:143-9. 2004
    ..The high pathogenic potential of this mutation can be explained by its location in the highly conserved YRKLLEGEE motif at the C-terminal end of the 2B helix that has a critical role in the process of desmin filament assembly...
  31. ncbi Absence of upregulated genes associated with protein accumulations in desmin myopathy
    Raghavan Raju
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, 10 Center Drive, Room 10 4N248, Bethesda, Maryland 20892, USA
    Muscle Nerve 35:386-8. 2007
    ..No differences were found among them. In desmin myopathy, protein accumulation is not due to upregulation of genes triggered by mutant desmin, but rather to posttranslational disassembly of intermediate filaments...
  32. doi Placebo-controlled trial of rituximab in IgM anti-myelin-associated glycoprotein antibody demyelinating neuropathy
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Ann Neurol 65:286-93. 2009
    ..Report a double-blind, placebo-controlled study of rituximab in patients with anti-MAG demyelinating polyneuropathy (A-MAG-DP)...
  33. pmc In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
    Alexey Shatunov
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 9404, USA
    Eur J Hum Genet 17:656-63. 2009
    ..The study results suggest that the novel p.Val930_Thr933del mutation in filamin C is the cause of MFM but also indicate that filamin C mutations are a comparatively rare cause of MFM...
  34. pmc Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins
    Camilo Toro
    Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Neurol 13:29. 2013
    ..We independently studied HMERF-like diseases with the purpose to identify the cause, refine diagnostic criteria, and estimate the frequency of this disease among myopathy patients of various ethnic origins...
  35. ncbi Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy
    Susan E Sparks
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Glycobiology 15:1102-10. 2005
    ..This cell-free approach can be applied to other glycosylation pathway enzymes that are difficult to evaluate in whole cells because their substrate specificities overlap with those of ancillary enzymes...
  36. ncbi Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute NIH, Bethesda, MD, USA
    Mol Genet Metab 81:196-202. 2004
    ..These findings resemble those found for other congenital muscular dystrophies, suggesting that HIBM may be a "dystroglycanopathy," and providing an explanation for the muscle weakness of patients with GNE mutations...
  37. ncbi Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies
    Goran Rakocevic
    Neuromuscular Diseases Section, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
    Neurology 67:1068-70. 2006
    ..Gamma-aminobutyric acid-enhancing drugs and immunotherapies improved only the stiffness. SPS-Cer is a distinct subset of SPS causing a more severe and complex clinical phenotype...
  38. pmc High definition profiling of autoantibodies to glutamic acid decarboxylases GAD65/GAD67 in stiff-person syndrome
    Peter D Burbelo
    Neurobiology and Pain Therapeutics Section, Laboratory of Sensory Biology, National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA
    Biochem Biophys Res Commun 366:1-7. 2008
    ..This study validates LIPS as a robust method to interrogate autoantibodies for the diagnosis of SPS and potentially other neurological diseases...
  39. ncbi Analysis of GAD65 autoantibodies in Stiff-Person syndrome patients
    Raghavanpillai Raju
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    J Immunol 175:7755-62. 2005
    ..A mAb (N-GAD65 mAb) recognizing this N-terminal epitope was successfully humanized to enhance its potential therapeutic value by reducing its overall immunogenicity...
  40. ncbi Autoimmunity to GABAA-receptor-associated protein in stiff-person syndrome
    Raghavan Raju
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, Uniformed Services University of the Health Sciences Bethesda, MD 20892, USA
    Brain 129:3270-6. 2006
    ..Because the patients' IgG inhibits the expression of GABA(A)-receptors, the circulating antibodies could impair GABAergic pathways and play a role in the clinical symptomatology of SPS patients...
  41. 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...
  42. pmc Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease
    Lev G Goldfarb
    National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA
    J Clin Invest 119:1806-13. 2009
    ..Awareness of this disease needs to be heightened, diagnostic criteria reliably outlined, and molecular testing readily available; this would ensure prevention of sudden death from cardiac arrhythmias and other complications...
  43. ncbi Anti-glutamic acid decarboxylase antibodies in the serum and cerebrospinal fluid of patients with stiff-person syndrome: correlation with clinical severity
    Goran Rakocevic
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Arch Neurol 61:902-4. 2004
    ..Up to 80% of patients with SPS have anti-glutamic acid decarboxylase (GAD) antibodies in the serum or cerebral spinal fluid (CSF). Whether these antibodies are clinically relevant and correlate with disease severity is unknown...
  44. ncbi The future prospects in the classification, diagnosis and therapies of inflammatory myopathies: a view to the future from the "bench-to-bedside"
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institue of Neurological Disorders and Stroke, National Institues of Health, Building 10, Room 4N248, 10 Center Dr MSC 1382, Bethesda, MD 20892 1382, USA
    J Neurol 251:651-7. 2004
  45. doi A focused microarray to study human mitochondrial and nuclear gene expression
    Joachim G Voss
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, NIH, Bethesda, MD, USA
    Biol Res Nurs 9:272-9. 2008
    ..This is the first report on the development of a focused oligonucleotide microarray containing genes of the mitochondrial genome...
  46. ncbi Therapeutic approaches in patients with inflammatory myopathies
    Marinos 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, MD 20892 1382, USA
    Semin Neurol 23:199-206. 2003
    ..In IBM, the use of such immunomodulatory drugs may be combined with agents that block cytokine-enhancing amyloid or with agents that inhibit the formation and polymerization of amyloid fibrils...
  47. ncbi GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM
    Olavo M Vasconcelos
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Neurology 59:1776-9. 2002
    ..After 8 years of follow-up and severe disease progression, the quadriceps muscle in the QS-IBM patient remains strong despite subclinical involvement documented with repeat MRI and muscle biopsy...
  48. pmc HIV infection and antiretroviral therapy have divergent effects on mitochondria in adipose tissue
    Caryn G Morse
    Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892 1403, USA
    J Infect Dis 205:1778-87. 2012
    ....
  49. pmc Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study
    Susan Sparks
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Neurol 7:3. 2007
    ..Reduced sialylation of muscle glycoproteins, such as alpha-dystroglycan and neural cell adhesion molecule (NCAM), has been reported in HIBM...
  50. ncbi Expression of IFN-gamma-inducible chemokines in inclusion body myositis
    Raghavanpillai Raju
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    J Neuroimmunol 141:125-31. 2003
    ....
  51. ncbi 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...
  52. ncbi 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...
  53. ncbi 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...
  54. ncbi 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...
  55. ncbi 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...
  56. ncbi 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...
  57. ncbi A neuropsychological assessment of phobias in patients with stiff person syndrome
    Rezvan Ameli
    Mood and Anxiety Disorders Program, National Institute of Neurological and Disorders and Stroke, NIH, Bethesda, MD, USA
    Neurology 64:1961-3. 2005
    ..No neurocognitive dysfunction was noted. Patients perceived fears and anxiety as realistic and caused by SPS rather than due to an inherent phobic neurosis...
  58. ncbi Brain gamma-aminobutyric acid changes in stiff-person syndrome
    Lucien M Levy
    Neuroimaging Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Arch Neurol 62:970-4. 2005
    ....
  59. ncbi 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...
  60. ncbi 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...
  61. 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...
  62. pmc Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report
    Nicola C Ho
    Human Genetics and Integrative Medicine Section, LG, NIA, National Institutes of Health, Baltimore, MD, USA
    BMC Neurol 3:3. 2003
    ..It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage development and anomalous neuromuscular activity...
  63. ncbi Mechanisms of action of IVIg and therapeutic considerations in the treatment of acute and chronic demyelinating neuropathies
    Marinos C Dalakas
    National Institutes of Health, Bethesda, MD 20892, USA
    Neurology 59:S13-21. 2002
    ....
  64. doi Invited article: inhibition of B cell functions: implications for neurology
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Neurology 70:2252-60. 2008
    ..In uncontrolled series, benefit has been reported in several disorders. B cell depletion is a well-tolerated therapeutic option currently explored in the treatment of several autoimmune neurologic disorders...
  65. ncbi Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations
    Marinos C Dalakas
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4B37, 10 Central Drive, MSC 1361, Bethesda, MD 20892, USA
    Neuromuscul Disord 13:252-8. 2003
    ..Progressive skeletal myopathy is a rare phenotypic variant of desmin myopathy allelic to the more frequent cardio-skeletal form...
  66. ncbi A comparison of fatigue scales in postpoliomyelitis syndrome
    Olavo M Vasconcelos
    Department of Neurology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
    Arch Phys Med Rehabil 87:1213-7. 2006
    ..To examine the applicability and validity of traditional fatigue questionnaires in postpoliomyelitis syndrome (PPS) patients with disabling fatigue...
  67. ncbi Inflammatory myopathies. Recent advances in pathogenesis and therapy
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Adv Neurol 88:253-71. 2002
  68. pmc Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
    Eri Arikawa-Hirasawa
    Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA
    Am J Hum Genet 70:1368-75. 2002
    ..These findings suggest that perlecan has an important role in neuromuscular function and cartilage formation, and they define the molecular basis involved in the difference in the phenotypic severity between DDSH and SJS...
  69. ncbi 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...
  70. ncbi 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...
  71. ncbi 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...
  72. ncbi The challenge of diagnosing ALS in patients with prior poliomyelitis
    Mohammad Salajegheh
    NDS NINDS NIH, Bethesda, MD 20892, USA
    Neurology 67:1078-9. 2006
    ..Abundant spontaneous activity and group atrophy in newly affected muscles were prominent. ALS can rarely occur in the postpolio population starting de novo rather than as evolution of PPS...
  73. 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...
  74. ncbi 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...
  75. ncbi 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...
  76. ncbi 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...
  77. ncbi 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...
  78. ncbi Tropical spastic paraparesis: clinical, immunological, and virological studies in two patients from Martinique
    M C Dalakas
    National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, MD 20892
    Ann Neurol 23:S136-42. 1988
    ..We conclude that the HTLV-I retrovirus associated with tropical spastic paraparesis has both lymphocytotropic and neurotropic properties...
  79. ncbi 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...
  80. ncbi 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)..
  81. ncbi 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
    ....
  82. doi Interplay between inflammation and degeneration: using inclusion body myositis to study "neuroinflammation"
    Marinos C Dalakas
    Ann Neurol 64:1-3. 2008
  83. doi Intravenous immune globulin (10% caprylate-chromatography purified) for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy (ICE study): a randomised placebo-controlled trial
    Richard A C Hughes
    Department of Clinical Neuroscience, King s College London, Guy s Hospital, London, UK
    Lancet Neurol 7:136-44. 2008
    ..We aimed to establish whether 10% caprylate-chromatography purified immune globulin intravenous (IGIV-C) has short-term and long-term benefit in patients with CIDP...
  84. ncbi Basic principles of immunotherapy for neurologic diseases
    Reinhard Hohlfeld
    Institute for Clinical Neuroimmunology, Ludwig Maximilians University Munich, Marchionistrasse 25, D 81377 Munich, Germany
    Semin Neurol 23:121-32. 2003
    ..Improvement must be based on a beneficial change in activities of daily living and not solely on a change in the laboratory test values...
  85. ncbi Strokes, thromboembolic events, and IVIg: rare incidents blemish an excellent safety record
    Marinos C Dalakas
    Neurology 60:1736-7. 2003
  86. ncbi Upregulation of thrombospondin-1(TSP-1) and its binding partners, CD36 and CD47, in sporadic inclusion body myositis
    Mohammad Salajegheh
    The Division of Neuromuscular Disease, Department of Neurology, Brigham and Women s Hospital, 75 Francis Street, Tower 5D, Boston, MA 02115, USA
    J Neuroimmunol 187:166-74. 2007
    ..The TSP-complex is another inflammatory mediator associated with chronic inflammation in IBM that may perpetuate the immune responses to local antigens in response to TNF-alpha...
  87. ncbi Immunotherapy in autoimmune neuromuscular disorders
    Ralf Gold
    Department of Neurology, Clinical Research Group for Multiple Sclerosis and Neuroimmunology, Julius Maximilians Universitat Wurzburg, Wurzburg, Germany
    Lancet Neurol 2:22-32. 2003
    ..Here we review the principles and targets of immunotherapy for autoimmune neuromuscular disorders, address applications and practical guidelines, and give an outlook on future developments...
  88. ncbi Cost-utility analysis of intravenous immunoglobulin and prednisolone for chronic inflammatory demyelinating polyradiculoneuropathy
    Paul McCrone
    Centre for the Economics of Mental Health, Health Services Research Department, Institute of Psychiatry, King s College London, UK
    Eur J Neurol 10:687-94. 2003
    ..The impact of later side-effects of prednisolone on long-term costs and quality of life are likely to reduce the cost per QALY of IVIg treatment...
  89. ncbi From canine to man: on antibodies, macrophages, and dendritic cells in inflammatory myopathies
    Marinos C Dalakas
    Muscle Nerve 29:753-5. 2004
  90. ncbi Drug Insight: the use of intravenous immunoglobulin in neurology--therapeutic considerations and practical issues
    Ralf Gold
    Department of Neurology at St Josef Hospital, University of Bochum, Germany
    Nat Clin Pract Neurol 3:36-44. 2007
    ..In this article, we review the current indications for IVIg treatment, address practical issues related to the use and costs of the drug, and summarize its mechanisms of action...
  91. ncbi Macroautophagy as a pathomechanism in sporadic inclusion body myositis
    Jan D Lunemann
    Laboratory of Viral Immunobiology, Christopher H Browne Center for Immunology and Immune Diseases, The Rockefeller University, New York, New York 10021, USA
    Autophagy 3:384-6. 2007
    ..A better understanding of this pathway in skeletal muscle and in the inflammatory environment of sIBM might provide a rationale for novel therapeutic strategies targeting pathogenic protein aggregation...
  92. ncbi Blockade of blocking antibodies in Guillain-Barré syndromes: "unblocking" the mystery of action of intravenous immunoglobulin
    Marinos C Dalakas
    Ann Neurol 51:667-9. 2002
  93. ncbi Gene expression profiling in chronic inflammatory demyelinating polyneuropathy
    Susanne Renaud
    Department of Neurology and Neurosciences, Weill Medical College, Cornell University, New York, NY, USA
    J Neuroimmunol 159:203-14. 2005
    ..Differential gene expression may help distinguish between CIDP, VAS and NN in sural nerve biopsies and identify genes that may be involved in disease pathogenesis...
  94. ncbi Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
    Kumaraswamy Sivakumar
    Barrow Neurological Institute, Phoenix, AZ, USA
    Brain 128:2304-14. 2005
    ..Awareness of these overlapping clinical phenotypes associated with mutations in GARS will facilitate identification of this disorder in additional families and direct future research toward better understanding of its pathogenesis...
  95. ncbi Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy
    Anna Kaminska
    Neuromuscular Unit, Medical Research Center, Polish Academy of Sciences, Warsaw, Poland
    Hum Genet 114:306-13. 2004
    ..This study provides insights into molecular pathogenetic mechanisms of desmin mutation-associated skeletal and cardioskeletal myopathy...
  96. ncbi Guidelines for the diagnosis and treatment of chronic inflammatory demyelinating polyneuropathy
    Alan R Berger
    Department of Neurology, University of Florida, USA
    J Peripher Nerv Syst 8:282-4. 2003
  97. ncbi Pro-inflammatory cytokines and motor neuron dysfunction: is there a connection in post-polio syndrome?
    Marinos C Dalakas
    J Neurol Sci 205:5-8. 2002
  98. ncbi Beta-amyloid is a substrate of autophagy in sporadic inclusion body myositis
    Jan D Lunemann
    Laboratory of Viral Immunobiology, Christopher H Browne Center for Immunology and Immune Diseases, The Rockefeller University, New York, NY 10021, USA
    Ann Neurol 61:476-83. 2007
    ..Therefore, we analyzed macroautophagy of APP in human muscle cell lines and sIBM muscle biopsies...