Research Topics
Species | M C DalakasSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
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...- 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... - 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... - 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... 
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...- 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... - 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... - 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... - 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.... - 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).. - 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... - 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... - 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... - 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.... - 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 - 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... - 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... - 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... - 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... - 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... - 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... - 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... - Peripheral neuropathy and antiretroviral drugsM 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... - 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.... - 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... - 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... - 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 - 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... - 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... - Update on idiopathic inflammatory myopathiesC 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... - Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscleK Poetter
Inherited Cardiac Diseases Section, NHLBI, NIH Bethesda, Maryland 20892 1650, USA
Nat Genet 13:63-9. 1996.... - MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysisG 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... - Skin involvement and outcome measures in systemic autoimmune diseasesJ 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... - Correlating phenotype and genotype in the periodic paralysesT M Miller
Department of Neurology, University of California San Francisco 94143 2922, USA
Neurology 63:1647-55. 2004....