Research Topics
Genomes and GenesSpecies | Marinos C DalakasSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
The molecular pathophysiology in inflammatory myopathiesM 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- Autoimmune muscular pathologiesM 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... - Inclusion body myositis with human immunodeficiency virus infection: four cases with clonal expansion of viral-specific T cellsMarinos 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... - Stiff person syndrome: quantification, specificity, and intrathecal synthesis of GAD65 antibodiesM 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... - The molecular and cellular pathology of inflammatory muscle diseasesM 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.... - High-dose intravenous immune globulin for stiff-person syndromeM 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... - Inflammatory, immune, and viral aspects of inclusion-body myositisMarinos 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... - The role of high-dose immune globulin intravenous in the treatment of dermatomyositisMarinos 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... - Polymyositis and dermatomyositisMarinos 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... - Role of IVIg in autoimmune, neuroinflammatory and neurodegenerative disorders of the central nervous system: present and future prospectsMarinos 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... - Advances in the immunobiology and treatment of inflammatory myopathiesMarinos 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... - Mechanisms of disease: signaling pathways and immunobiology of inflammatory myopathiesMarinos 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... - Therapeutic targets in patients with inflammatory myopathies: present approaches and a look to the futureMarinos 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 - Sporadic inclusion body myositis--diagnosis, pathogenesis and therapeutic strategiesMarinos 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... - Intravenous immunoglobulin in patients with anti-GAD antibody-associated neurological diseases and patients with inflammatory myopathies: effects on clinicopathological features and immunoregulatory genesMarinos 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... - The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profileMarinos 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... - 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 - Inflammatory disorders of muscle: progress in polymyositis, dermatomyositis and inclusion body myositisMarinos 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... - The role of IVIg in the treatment of patients with stiff person syndrome and other neurological diseases associated with anti-GAD antibodiesMarinos 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... - B cells in the pathophysiology of autoimmune neurological disorders: a credible therapeutic targetMarinos 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... - Intravenous immunoglobulin in autoimmune neuromuscular diseasesMarinos 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... - Update on the molecular pathogenesis of inflammatory myopathiesM 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 - Molecular pathogenesis of inflammatory myopathies and future therapeutic strategiesMarinos 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 - Muscle biopsy findings in inflammatory myopathiesMarinos 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... - Gene expression profile in the muscles of patients with inflammatory myopathies: effect of therapy with IVIg and biological validation of clinically relevant genesRaghavan 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... - Interrelation of inflammation and APP in sIBM: IL-1 beta induces accumulation of beta-amyloid in skeletal muscleJens 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... - Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathyEmily 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... - Upregulated inducible co-stimulator (ICOS) and ICOS-ligand in inclusion body myositis muscle: significance for CD8+ T cell cytotoxicityJens 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... - A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desminAyush 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... - Advances in the pathogenesis and treatment of patients with stiff person syndromeMarinos 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... - Placebo-controlled trial of rituximab in IgM anti-myelin-associated glycoprotein antibody demyelinating neuropathyMarinos 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)... - Absence of upregulated genes associated with protein accumulations in desmin myopathyRaghavan 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... - Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutationsMarjan 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... - Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathySusan 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... - Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseLev 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... - High definition profiling of autoantibodies to glutamic acid decarboxylases GAD65/GAD67 in stiff-person syndromePeter 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... - Autoimmunity to GABAA-receptor-associated protein in stiff-person syndromeRaghavan 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... - Analysis of GAD65 autoantibodies in Stiff-Person syndrome patientsRaghavanpillai 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... - In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathyAlexey 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... - Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodiesGoran 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... - Desmin splice variants causing cardiac and skeletal myopathyK 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... - A focused microarray to study human mitochondrial and nuclear gene expressionJoachim 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... - Anti-glutamic acid decarboxylase antibodies in the serum and cerebrospinal fluid of patients with stiff-person syndrome: correlation with clinical severityGoran 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..Anti-GAD antibodies are an excellent marker for SPS, but monitoring their titers during the course of the disease may not be of practical value... - 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 - GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBMOlavo 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... - Therapeutic approaches in patients with inflammatory myopathiesMarinos 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... - HIV infection and antiretroviral therapy have divergent effects on mitochondria in adipose tissueCaryn 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.... - Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studySusan 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... - Expression of IFN-gamma-inducible chemokines in inclusion body myositisRaghavanpillai Raju
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
J Neuroimmunol 141:125-31. 2003.... - Autoimmune autonomic failure in a patient with myeloma-associated Shy-Drager syndromeD 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... - Missense mutations in desmin associated with familial cardiac and skeletal myopathyL 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... - The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acidL 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... - Desmin myopathyL 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... - Intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: present status and practical therapeutic guidelinesM 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... - Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin geneM 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... - Brain gamma-aminobutyric acid changes in stiff-person syndromeLucien 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.... - A neuropsychological assessment of phobias in patients with stiff person syndromeRezvan 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... - 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 mutationK 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... - High-dose intravenous immunoglobulin in inflammatory myopathies: experience based on controlled clinical trialsM 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... - 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 diseaseO 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... - Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case reportNicola 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... - A comparison of fatigue scales in postpoliomyelitis syndromeOlavo 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... - Invited article: inhibition of B cell functions: implications for neurologyMarinos 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... - Mechanisms of action of IVIg and therapeutic considerations in the treatment of acute and chronic demyelinating neuropathiesMarinos C Dalakas
National Institutes of Health, Bethesda, MD 20892, USA
Neurology 59:S13-21. 2002.... - Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutationsMarinos 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... - Inflammatory myopathies. Recent advances in pathogenesis and therapyMarinos 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 - Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasiaEri 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... - Understanding the immunopathogenesis of inclusion-body myositis: present and future prospectsM 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... - A controlled study of intravenous immunoglobulin combined with prednisone in the treatment of IBMM 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... - Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutationsM 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... - The challenge of diagnosing ALS in patients with prior poliomyelitisMohammad 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... - Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathyL 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... - T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositisM 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... - Modafinil for treatment of fatigue in post-polio syndrome: a randomized controlled trialO 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... - Viruses in idiopathic inflammatory myopathies: absence of candidate viral genomes in muscleR 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... - Increased brainstem excitability in stiff-person syndromeF 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... - Mitochondrial myopathy caused by long-term zidovudine therapyM 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.... - Immune-mediated mechanisms and immune activation of fibroblasts in the pathogenesis of eosinophilia-myalgia syndrome induced by L-tryptophanI 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... - Polymyositis in patients infected with human T-cell leukemia virus type I: the role of the virus in the cause of the diseaseM 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).. - Tropical spastic paraparesis: clinical, immunological, and virological studies in two patients from MartiniqueM 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... - Interplay between inflammation and degeneration: using inclusion body myositis to study "neuroinflammation"Marinos C Dalakas
Ann Neurol 64:1-3. 2008 - Upregulation of thrombospondin-1(TSP-1) and its binding partners, CD36 and CD47, in sporadic inclusion body myositisMohammad 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... - Intravenous immune globulin (10% caprylate-chromatography purified) for the treatment of chronic inflammatory demyelinating polyradiculoneuropathy (ICE study): a randomised placebo-controlled trialRichard 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... - Basic principles of immunotherapy for neurologic diseasesReinhard 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... - Macroautophagy as a pathomechanism in sporadic inclusion body myositisJan 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... - Drug Insight: the use of intravenous immunoglobulin in neurology--therapeutic considerations and practical issuesRalf 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... - From canine to man: on antibodies, macrophages, and dendritic cells in inflammatory myopathiesMarinos C Dalakas
Muscle Nerve 29:753-5. 2004 - Strokes, thromboembolic events, and IVIg: rare incidents blemish an excellent safety recordMarinos C Dalakas
Neurology 60:1736-7. 2003 - Immunotherapy in autoimmune neuromuscular disordersRalf 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... - Cost-utility analysis of intravenous immunoglobulin and prednisolone for chronic inflammatory demyelinating polyradiculoneuropathyPaul 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... - Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutationsKumaraswamy 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... - Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathyAnna 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... - Guidelines for the diagnosis and treatment of chronic inflammatory demyelinating polyneuropathyAlan R Berger
Department of Neurology, University of Florida, USA
J Peripher Nerv Syst 8:282-4. 2003 - Beta-amyloid is a substrate of autophagy in sporadic inclusion body myositisJan 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... - 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 - Blockade of blocking antibodies in Guillain-Barré syndromes: "unblocking" the mystery of action of intravenous immunoglobulinMarinos C Dalakas
Ann Neurol 51:667-9. 2002 - Gene expression profiling in chronic inflammatory demyelinating polyneuropathySusanne 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...