muscular diseases

Summary

Summary: Acquired, familial, and congenital disorders of skeletal muscle (MUSCLE, SKELETAL) and smooth muscle (MUSCLE, SMOOTH).

Top Publications

  1. ncbi Myofibrillar myopathies: a clinical and myopathological guide
    Rolf Schroder
    Institute of Neuropathology and Department of Neurology, University Hospital Erlangen, Erlangen, Germany
    Brain Pathol 19:483-92. 2009
  2. ncbi Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
    I Nishino
    Department of Neurology, Columbia University, New York, New York 10032, USA
    Nature 406:906-10. 2000
  3. pmc Muscle damage from eccentric exercise: mechanism, mechanical signs, adaptation and clinical applications
    U Proske
    Department of Physiology, Monash University, Melbourne, Victoria, Australia
    J Physiol 537:333-45. 2001
  4. ncbi Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
    William A Irwin
    Department of Histology, University of Padova, 35121 Padova, Italy
    Nat Genet 35:367-71. 2003
  5. ncbi Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
    Monica Ohlsson
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE 413 45 Gothenburg, Sweden
    Brain 135:1682-94. 2012
  6. ncbi Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin
    L R Brunham
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    Pharmacogenomics J 12:233-7. 2012
  7. ncbi Statin-associated myopathy
    Paul D Thompson
    Preventive Cardiology and Cardiovascular Research, Division of Cardiology, Hartford Hospital, Hartford, Conn 06102, USA
    JAMA 289:1681-90. 2003
  8. pmc Titin mutation segregates with hereditary myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, Central Parkway, Newcastle, NE1 3BZ, UK
    Brain 135:1695-713. 2012
  9. pmc Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Hum Mol Genet 17:3897-908. 2008
  10. ncbi Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
    Anne Sophie Nicot
    Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Department of Molecular Pathology, F 67400 Illkirch, France
    Nat Genet 39:1134-9. 2007

Research Grants

  1. Dynamics of Kinesins, Dyneins, and Myosins
    Paul R Selvin; Fiscal Year: 2010
  2. Role of murine induced pluripotent stem cells on the correction of cardiac and sk
    Diego Fraidenraich; Fiscal Year: 2010
  3. BIOGENESIS OF THE MITOCHONDRIAL INNER MEMBRANE
    Carla M Koehler; Fiscal Year: 2013
  4. Characterization of redox-mediated protein in mitochondria
    SONYA ELINA NEAL; Fiscal Year: 2013
  5. Autophagy
    Andrew D Robertson; Fiscal Year: 2011
  6. Power Tower: A Novel Paradigm for Exercsie Training in Drosophila melanogaster
    ROBERT JOHN WESSELLS; Fiscal Year: 2012
  7. Study of redox regulated pathways in the mitochondrion
    DEEPA VINAY DABIR; Fiscal Year: 2010
  8. Mechanisms Regulating Myoblast Fusion in Drosophila
    Mary K Baylies; Fiscal Year: 2010
  9. Engineering a Functional Skeletal Muscle
    Nenad Bursac; Fiscal Year: 2012
  10. MECHANISM OF BOTULINUM NEUROTOXIN ACTION
    Bal Ram Singh; Fiscal Year: 1999

Detail Information

Publications288 found, 100 shown here

  1. ncbi Myofibrillar myopathies: a clinical and myopathological guide
    Rolf Schroder
    Institute of Neuropathology and Department of Neurology, University Hospital Erlangen, Erlangen, Germany
    Brain Pathol 19:483-92. 2009
    ..This review focuses on the clinical and myopathological aspects of genetically defined MFMs, and shall provide a diagnostic guide for this numerically significant group of protein aggregate myopathies...
  2. ncbi Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
    I Nishino
    Department of Neurology, Columbia University, New York, New York 10032, USA
    Nature 406:906-10. 2000
    ..To our knowledge this is the first example of human cardiopathy-myopathy that is caused by mutations in a lysosomal structural protein rather than an enzymatic protein...
  3. pmc Muscle damage from eccentric exercise: mechanism, mechanical signs, adaptation and clinical applications
    U Proske
    Department of Physiology, Monash University, Melbourne, Victoria, Australia
    J Physiol 537:333-45. 2001
    ..The ability of muscle to rapidly adapt following the damage from eccentric exercise raises the possibility of clinical applications of mild eccentric exercise, such as for protecting a muscle against more major injuries...
  4. ncbi Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
    William A Irwin
    Department of Histology, University of Padova, 35121 Padova, Italy
    Nat Genet 35:367-71. 2003
    ..These findings indicate that collagen VI myopathies have an unexpected mitochondrial pathogenesis that could be exploited for therapeutic intervention...
  5. ncbi Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
    Monica Ohlsson
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE 413 45 Gothenburg, Sweden
    Brain 135:1682-94. 2012
    ..The typical histopathological features with prominent myofibrillar lesions and inclusions in muscle and respiratory failure early in the clinical course should be incentives for analysis of TTN mutations...
  6. ncbi Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin
    L R Brunham
    Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    Pharmacogenomics J 12:233-7. 2012
    ..Our findings provide further support for a role for SLCO1B1 genotype in simvastatin-associated myopathy, and suggest that this association may be stronger for simvastatin compared with atorvastatin...
  7. ncbi Statin-associated myopathy
    Paul D Thompson
    Preventive Cardiology and Cardiovascular Research, Division of Cardiology, Hartford Hospital, Hartford, Conn 06102, USA
    JAMA 289:1681-90. 2003
    ..How statins injure skeletal muscle is not clear, although recent evidence suggests that statins reduce the production of small regulatory proteins that are important for myocyte maintenance...
  8. pmc Titin mutation segregates with hereditary myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, Central Parkway, Newcastle, NE1 3BZ, UK
    Brain 135:1695-713. 2012
    ..With 363 exons, screening TTN presented a major challenge until recently. However, whole exome sequencing provides a reliable cost-effective approach, providing the gene of interest is adequately captured...
  9. pmc Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
    Nina Raben
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Hum Mol Genet 17:3897-908. 2008
    ..As a result, autophagic substrates, including potentially toxic aggregate-prone ubiquitinated proteins, accumulate in Pompe myofibers and may cause profound muscle damage...
  10. ncbi Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
    Anne Sophie Nicot
    Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Department of Molecular Pathology, F 67400 Illkirch, France
    Nat Genet 39:1134-9. 2007
    ....
  11. ncbi A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    J Laporte
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM U LP, B P 163, C U de Strasbourg, France
    Nat Genet 13:175-82. 1996
    ..At least three other genes, one located within 100 kb distal from the MTM1 gene, encode proteins with very high sequence similarities and define, together with the MTM1 gene, a new family of putative tyrosine phosphatases in man...
  12. ncbi Muscle oxygenation and glycolysis in females with trapezius myalgia during stress and repetitive work using microdialysis and NIRS
    Gisela Sjøgaard
    Institute of Sport Sciences and Clinical Biomechanics, University of Southern Denmark, Campusvej 55, 5230, Odense M, Denmark
    Eur J Appl Physiol 108:657-69. 2010
    ..Higher relative muscle load during PEG and STR, insufficient muscle blood flow and oxygenation may account for the higher lactate, pyruvate and pain responses among MYA versus CON...
  13. doi SLCO1B1 variants and statin-induced myopathy--a genomewide study
    E Link
    N Engl J Med 359:789-99. 2008
    ..In rare cases, myopathy occurs in association with statin therapy, especially when the statins are administered at higher doses and with certain other medications...
  14. 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...
  15. pmc Clinical utility of LC3 and p62 immunohistochemistry in diagnosis of drug-induced autophagic vacuolar myopathies: a case-control study
    Han S Lee
    Department of Pathology, University of California San Francisco, San Francisco, California, USA
    PLoS ONE 7:e36221. 2012
    ..The goal of the current study was to develop an immunohistochemical diagnostic marker for this pathologic entity...
  16. ncbi Adverse effects of statins - mechanisms and consequences
    Jerzy Bełtowski
    Department of Pathophysiology, Medical University, Lublin, Poland
    Curr Drug Saf 4:209-28. 2009
    ....
  17. ncbi Growing muscle has different sarcolemmal properties from adult muscle: a proposal with scientific and clinical implications: reasons to reassess skeletal muscle molecular dynamics, cellular responses and suitability of experimental models of muscle disord
    Miranda D Grounds
    School of Anatomy and Human Biology, The University of Western Australia, Western Australia, Australia
    Bioessays 33:458-68. 2011
    ..The consequences of a dynamic, expanding sarcolemma during growth, compared with that of an adult myofibre of a fixed length, are discussed with respect to various aspects of muscle biology...
  18. ncbi Acute quadriplegic myopathy: an acquired "myosinopathy"
    Lars Larsson
    Department of Clinical Neurophysiology, Uppsala University, Uppsala, Sweden
    Adv Exp Med Biol 642:92-8. 2008
    ....
  19. pmc Clinical review: Critical illness polyneuropathy and myopathy
    Greet Hermans
    Medical Intensive Care Unit, Department of General Internal Medicine, University Hospitals, Katholieke Universiteit Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Crit Care 12:238. 2008
    ..Also, conflicting evidence concerning the neuromuscular effects of corticosteroids exists. A systematic review of the available literature on the optimal approach for preventing CIP/CIM seems warranted...
  20. ncbi Neuromuscular sequelae of critical illness
    Nicola Latronico
    Institute of Anesthesiology Intensive Care, University of Brescia, Italy
    Curr Opin Crit Care 11:381-90. 2005
    ..To investigate the impact of critical illness polyneuropathy and critical illness myopathy on short-term and long-term patient outcome...
  21. pmc Mechanisms of statin-induced myalgia assessed by physiogenomic associations
    GUALBERTO RUANO
    Genetics Research Center, Hartford Hospital, Hartford, CT, USA
    Atherosclerosis 218:451-6. 2011
    ..We investigated genetic variants predictive of muscular side effects in patients treated with statins. We utilized a physiogenomic approach to prototype a multi-gene panel correlated with statin-induced myalgia...
  22. ncbi Statin-induced myopathy: the two faces of Janus
    Rohit Arora
    Division of Cardiovascular Disease, Department of Medicine, Chicago Medical School, 3001 Green Bay Road, North Chicago, IL 60064, USA
    J Cardiovasc Pharmacol Ther 11:105-12. 2006
    ..The mechanism of statin-associated myotoxicity has not been satisfactorily defined and is likely due to multiple factors, including membrane instability, mitochondrial dysfunction, and defects in myocyte duplication...
  23. pmc Caveolinopathies: from the biology of caveolin-3 to human diseases
    Elisabetta Gazzerro
    Department of Paediatrics, Muscular and Neurodegenerative Disease Unit, University of Genova, G Gaslini Institute, Genova, Italy
    Eur J Hum Genet 18:137-45. 2010
    ..This review will address caveolin-3 biological functions in muscle cells and will describe the muscle and heart disease phenotypes associated with caveolin-3 mutations...
  24. pmc SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group
    Paulo C J L Santos
    Laboratory of Genetics and Molecular Cardiology, Heart Institute InCor, University of Sao Paulo Medical School, Av, Dr, Enéas de Carvalho Aguiar, 44, Sao Paulo, 05403 000, Brazil
    BMC Med Genet 12:136. 2011
    ..In the scenario of the Brazilian population, being one of the most heterogeneous in the world, the main aim here was to evaluate SLCO1B1 polymorphisms according to ethnic groups as an initial step for future pharmacogenetic studies...
  25. ncbi Desminopathies in muscle disease
    Denise Paulin
    Universite Denis Diderot Paris 7, Case 7136, Biologie Moleculaire de la Differenciation, 2 place Jussieu, 75251 Paris Cedex, France
    J Pathol 204:418-27. 2004
    ....
  26. ncbi Skeletal muscle dysfunction in COPD: clinical and laboratory observations
    William D C Man
    Royal Brompton and Harefield NHS Trust, London, UK
    Clin Sci (Lond) 117:251-64. 2009
    ..Increasing knowledge of the molecular pathways of muscle wasting will lead to the development of new therapeutic agents and strategies to combat COPD muscle dysfunction...
  27. ncbi Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb
    Ramakrishna Kurapati
    MRC Mammalian Genetics Unit, Harwell OX11 0RD, UK
    Hum Mol Genet 21:1706-24. 2012
    ..Recapitulation of the L342Q change in the functional equivalent of mouse MYH4 in human muscles, MYH1, results in a more aggregate-prone protein...
  28. ncbi Molecular consequences of dominant Bethlem myopathy collagen VI mutations
    Naomi L Baker
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Ann Neurol 62:390-405. 2007
    ..Although more than 20 different dominant mutations have been identified in Bethlem myopathy patients, the biosynthetic consequences of only a subset of these have been studied, and in many cases, the pathogenic mechanisms remain unknown...
  29. pmc Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals
    Brad A Freking
    U S Department of Agriculture, Agricultural Research Service, U S Meat Animal Research Center, Clay Center, Nebraska 68933 0166, USA
    Genome Res 12:1496-506. 2002
    ..Initial functional analysis indicates sequence encompassing the mutation is part of a novel transcript expressed in sheep fetal muscle we have named CLPG1...
  30. pmc Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy
    James J Dowling
    Department of Paediatrics, University of Michigan Medical School, Ann Arbor, MI 48109 2200, USA
    Brain 135:1115-27. 2012
    ..We propose that N-acetylcysteine represents the first potential therapeutic strategy for these debilitating muscle diseases...
  31. ncbi Myopathies associated with myosin heavy chain mutations
    A Oldfors
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Acta Myol 23:90-6. 2004
    ..These patients showed slowly progressive muscle weakness but no overt cardiomyopathy. These two muscle diseases, which are caused by mutations in MyHC, form the basis of a novel entity: "Myosin myopathies"...
  32. pmc The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice
    T Tiepolo
    Department of Histology, University of Padova, I 35121 Padova, Italy
    Br J Pharmacol 157:1045-52. 2009
    ..We have investigated the therapeutic effects of the selective cyclophilin inhibitor D-MeAla(3)-EtVal(4)-cyclosporin (Debio 025) in myopathic Col6a1(-/-) mice, a model of muscular dystrophies due to defects of collagen VI...
  33. ncbi Ultrasound of muscles
    P Peetrons
    Service Radiologie, C H Molière Longchamp, Rue Marconi 142, 1190 Brussels, Belgium
    Eur Radiol 12:35-43. 2002
    ..After healing, ultrasound can depict some complications such as a cystic lesion or myositis ossificans. Muscle atrophy, inflammation, avulsion and tumours are also good indications for ultrasound...
  34. ncbi Autophagic vacuolar myopathy
    Ichizo Nishino
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Semin Pediatr Neurol 13:90-5. 2006
    ....
  35. pmc The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy
    R A Wilke
    Oates Institute for Experimental Therapeutics, Vanderbilt University Medical Center, Nashville, Tennessee, USA
    Clin Pharmacol Ther 92:112-7. 2012
    ..This guideline explores the relationship between rs4149056 (c.521T>C, p.V174A) and clinical outcome for all statins. The strength of the evidence is high for myopathy with simvastatin. We limit our recommendations accordingly...
  36. ncbi Myostatin mutation associated with gross muscle hypertrophy in a child
    Markus Schuelke
    Department of Neuropediatrics, Charite, University Medical Center Berlin, Berlin, Germany
    N Engl J Med 350:2682-8. 2004
  37. ncbi Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    K Poetter
    Inherited Cardiac Diseases Section, NHLBI, NIH Bethesda, Maryland 20892 1650, USA
    Nat Genet 13:63-9. 1996
    ....
  38. ncbi Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
    Clare V Logan
    Leeds Institute of Molecular Medicine, The University of Leeds, UK
    Nat Genet 43:1189-92. 2011
    ....
  39. ncbi Critical illness polyneuropathy and myopathy: a major cause of muscle weakness and paralysis
    Nicola Latronico
    Department of Anaesthesia, Intensive Care, and Perioperative Medicine, Division of Neuroanaesthesia and Neurocritical Care, University of Brescia, Spedali Civili, Brescia, Italy
    Lancet Neurol 10:931-41. 2011
    ..Control of hyperglycaemia might reduce the severity of these complications of critical illness, and early rehabilitation in the intensive care unit might improve the functional recovery and independence of patients...
  40. ncbi Myopathy and neuropathy associated with nucleos(t)ide analog therapy for hepatitis B
    Russell D Fleischer
    Division of Antiviral Products, Center for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, MD, USA
    J Hepatol 51:787-91. 2009
    ....
  41. pmc Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy
    Matthew B Harms
    Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 71:407-16. 2012
    ..To identify the causative gene in an autosomal dominant limb-girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles...
  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 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
    Klaus Gempel
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics Academic Hospital Schwabing, Munich, Germany
    Brain 130:2037-44. 2007
    ..We suggest to give patients both CoQ10 and riboflavin supplementation, especially for long-term treatment...
  44. ncbi Hereditary myosin myopathies
    Anders Oldfors
    Department of Pathology, Sahlgrenska University Hospital, S 413 45 Goteborg, Sweden
    Neuromuscul Disord 17:355-67. 2007
    ..Clinical findings, muscle morphology and molecular genetics in hereditary myosin myopathies are summarized in this review...
  45. pmc Statin adverse effects : a review of the literature and evidence for a mitochondrial mechanism
    Beatrice A Golomb
    Department of Medicine, University of California, San Diego, California 92093 0995, USA
    Am J Cardiovasc Drugs 8:373-418. 2008
    ..Awareness and vigilance for AEs should be maintained to enable informed treatment decisions, treatment modification if appropriate, improved quality of patient care, and reduced patient morbidity...
  46. ncbi Desmin: a major intermediate filament protein essential for the structural integrity and function of muscle
    Denise Paulin
    Biologie Moleculaire de la Differenciation, Universite Paris, 75251 Paris, France
    Exp Cell Res 301:1-7. 2004
    ..Other desmin-related myopathies, in which the desmin gene is not mutated, could be related to mutations of the genes encoding the proteins that interact with desmin...
  47. ncbi Statin-induced myopathy: a review and update
    Thura T Abd
    Emory University School of Medicine, Department of Medicine, J Willis Hurst Internal Medicine Residency Program, 69 Jesse Hill Jr Drive SE, Atlanta, GA 30303, USA
    Expert Opin Drug Saf 10:373-87. 2011
    ..Observational studies estimate that 10 - 15% of statin users develop statin-related muscle side effects ranging from mild myalgia to more severe muscle symptoms with significant CPK elevations...
  48. ncbi Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle
    May Christine Malicdan
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187 8502, Japan
    Neuromuscul Disord 18:521-9. 2008
    ..In this review, these disorders are briefly characterized, and the role of autophagy in the context of the pathomechanism of these disorders is highlighted...
  49. ncbi Increased proportion of megafibers in chronically painful muscles
    Lars L Andersen
    National Research Centre for the Working Environment, Copenhagen Ø, Denmark
    Pain 139:588-93. 2008
    ..In conclusion, this study shows that trapezius myalgia is associated with a significantly higher percentage of grossly hypertrophied type I muscle fibers with poor capillarization - type I megafibers...
  50. pmc Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations
    Savitha Shastry
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA
    Am J Med Genet A 152:2245-53. 2010
    ..It is unclear how mutations in PTRF, which plays an essential role in formation of caveolae, affect a wide variety of tissues resulting in a variable phenotype...
  51. ncbi Risks associated with statin therapy: a systematic overview of randomized clinical trials
    Amir Kashani
    Section of Cardiovascular Medicine, Department of Medicine, Yale University School of Medicine, New Haven, Conn, USA
    Circulation 114:2788-97. 2006
    ..We performed a systematic overview of randomized statin trials to quantify the risks of musculoskeletal, renal, and hepatic complications associated with therapy...
  52. ncbi Comparison between clevudine and entecavir treatment for antiviral-naïve patients with chronic hepatitis B
    Hong Joo Kim
    Department of Internal Medicine, Division of Gastroenterology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea
    Liver Int 30:834-40. 2010
    ..There has been no study comparing the clinical efficacy of clevudine and entecavir in antiviral-naïve patients with chronic hepatitis B (CHB)...
  53. ncbi Unusually high frequency of autoantibodies to PL-7 associated with milder muscle disease in Japanese patients with polymyositis/dermatomyositis
    Yoshioki Yamasaki
    University of Florida, Gainesville, USA
    Arthritis Rheum 54:2004-9. 2006
    ..Although anti-PL-7, similar to anti-Jo-1, is associated with PM/DM with ILD, muscle involvement in the patients with anti-PL-7 appeared to be milder than that in the anti-Jo-1 subset...
  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 A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
    Nicole Monnier
    Laboratoire de Biochimie de l ADN EA 2943, CHU Grenoble, France
    Hum Mol Genet 12:1171-8. 2003
    ..This first report of an out-of-frame mutation that affects the amount of RYR1 raised the question of the amount of RYR1 needed for skeletal muscle function in humans...
  56. ncbi Early onset collagen VI myopathies: Genetic and clinical correlations
    Laura Brinas
    INSERM, U582, Paris, France
    Ann Neurol 68:511-20. 2010
    ..We extensively characterized, at the clinical, cellular, and molecular levels, 49 patients with onset in the first 2 years of life to investigate genotype-phenotype correlations...
  57. ncbi Autosomal recessive myosclerosis myopathy is a collagen VI disorder
    L Merlini
    Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy
    Neurology 71:1245-53. 2008
    ..To determine the clinical and molecular features of a new phenotype related to collagen VI myopathies...
  58. ncbi Comparative safety of atorvastatin 80 mg versus 10 mg derived from analysis of 49 completed trials in 14,236 patients
    Connie Newman
    Pfizer Global Pharmaceuticals, New York, New York, USA
    Am J Cardiol 97:61-7. 2006
    ..In conclusion, the results of this analysis support the positive safety profile of atorvastatin at the highest dose...
  59. ncbi Autosomal recessive Bethlem myopathy
    F Gualandi
    Dipartimento di Medicina Sperimentale e Diagnostica, Sezione di Genetica Medica, Universita di Ferrara, Ferrara, Italia 44100
    Neurology 73:1883-91. 2009
    ..We have characterized the clinical, laboratory, and genetic features of autosomal recessive Bethlem myopathy in 2 unrelated patients...
  60. pmc MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes
    Michele Bastiani
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia
    J Cell Biol 185:1259-73. 2009
    ..Cavin-4 is expressed predominantly in muscle, and its distribution is perturbed in human muscle disease associated with Caveolin-3 dysfunction, identifying Cavin-4 as a novel muscle disease candidate caveolar protein...
  61. ncbi Satellite cell depletion in degenerative skeletal muscle
    S S Jejurikar
    Department of Surgery, University of Michigan Health Systems, Ann Arbor, Michigan 48109, USA
    Apoptosis 8:573-8. 2003
    ....
  62. pmc Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
    A K Lampe
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    J Med Genet 42:108-20. 2005
    ..BM is a relatively mild dominantly inherited disorder with proximal weakness and distal joint contractures. UCMD is an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity...
  63. ncbi Leukemia inhibitory factor and interleukin-6 are produced by diseased and regenerating skeletal muscle
    J B Kurek
    Melbourne Neuromuscular Research Centre, St Vincent s Hospital, Fitzroy, Victoria, Australia
    Muscle Nerve 19:1291-301. 1996
    ....
  64. ncbi Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant
    Aura T Chávez Zobel
    Centre de recherche en cancérologie de l Université Laval, L Hôtel Dieu de Québec, 9 rue McMahon, Quebec, Canada G1R 2J6
    Hum Mol Genet 12:1609-20. 2003
    ....
  65. ncbi Cap disease due to mutation of the beta-tropomyosin gene (TPM2)
    Nigel F Clarke
    Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Westmead, NSW, Australia
    Neuromuscul Disord 19:348-51. 2009
    ..E139del). 2D-gel electrophoresis studies show that the shortened mutant protein incorporates into sarcomeric structures, where it likely imposes a dominant-negative effect to cause muscle weakness...
  66. ncbi A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Straket 16, SE 413 45 Goteborg, Sweden
    Neuromuscul Disord 19:147-50. 2009
    ..This is the third report on mutations in RRM2B associated with severe mtDNA depletion, which further highlights the importance of de novo synthesis of deoxyribonucleotides (dNTPs) for mtDNA maintenance...
  67. ncbi Oxidative stress and predominant Abeta42(43) deposition in myopathies with rimmed vacuoles
    M Tateyama
    Department of Neurology, Tohoku University School of Medicine, 1 1 Seiryomachi, Aoba ku, 980 8574, Sendai, Japan
    Acta Neuropathol 105:581-5. 2003
    ....
  68. ncbi Minimal clinically important differences (MCID) and patient acceptable symptomatic state (PASS) for visual analog scales (VAS) measuring pain in patients treated for rotator cuff disease
    Robert Z Tashjian
    Department of Orthopaedics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA
    J Shoulder Elbow Surg 18:927-32. 2009
    ..The PASS is the score below which patients consider themselves well. The purpose of this study was to determine the MCID and PASS for a visual analog scale (VAS) measuring pain in patients treated for rotator cuff disease...
  69. pmc Role of TNF-{alpha} signaling in regeneration of cardiotoxin-injured muscle
    Shuen Ei Chen
    Department of Medicine, Baylor College of Medicine, One Baylor Plaza 520B, Houston, TX 77030, USA
    Am J Physiol Cell Physiol 289:C1179-87. 2005
    ..Functional studies demonstrated an attenuated recovery of contractile force in injured p55(-/-)p75(-/-) soleus. These data suggest that TNF-alpha signaling plays a critical regulatory role in muscle regeneration...
  70. ncbi MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
    Elena Pegoraro
    Department of Neurosciences, University of Padova, Italy
    Neuromuscul Disord 17:321-9. 2007
    ..In conclusion, phenotypic and histopathological variability may underlie MYH7 gene mutation and the absence of hyaline bodies in muscle biopsies does not rule out MYH7 gene mutations...
  71. pmc Sequenced response of extracellular matrix deadhesion and fibrotic regulators after muscle damage is involved in protection against future injury in human skeletal muscle
    Abigail L Mackey
    Institute of Sports Medicine, Department of Orthopaedic Surgery M, Bispebjerg Hospital, Bispebjerg Bakke 23, DK 2400 Copenhagen NV, Denmark
    FASEB J 25:1943-59. 2011
    ..001). The findings indicate that the sequenced events of load-induced early deadhesion and later strengthening of skeletal muscle ECM play a role in protecting human muscle against future injury...
  72. ncbi Scoliosis surgery in a patient with "de novo" myosin storage myopathy
    Xenia Stalpers
    Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands
    Neuromuscul Disord 21:812-5. 2011
    ..We describe a patient with this uncommon myopathy, caused by a new p.K1784delK mutation in the MYH7 gene. The patient developed a severe thoracolumbar scoliosis and had scoliosis surgery...
  73. ncbi Managing the underestimated risk of statin-associated myopathy
    Loukianos S Rallidis
    Second Department of Cardiology, University General Hospital, Attikon, Greece
    Int J Cardiol 159:169-76. 2012
    ....
  74. ncbi Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
    K G Claeys
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris, Cedex 13, France
    Neuromuscul Disord 18:656-66. 2008
    ..We conclude that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs...
  75. pmc Strength training increases the size of the satellite cell pool in type I and II fibres of chronically painful trapezius muscle in females
    Abigail L Mackey
    Institute of Sports Medicine, Department of Orthopaedic Surgery M, Bispebjerg Hospital, and Centre for Healthy Ageing, Faculty of Health Sciences, University of Copenhagen, Denmark
    J Physiol 589:5503-15. 2011
    ..These findings provide strong support at the cellular level for the potential of SST to induce a strong myogenic response in this population...
  76. ncbi Rehabilitation of critical illness polyneuropathy and myopathy patients: an observational study
    Primoz Novak
    University Rehabilitation Institute, Republic of Slovenia, Ljubljana, Slovenia
    Int J Rehabil Res 34:336-42. 2011
    ..Rehabilitation of such patients should start as early as possible once the diagnosis has been established. Comprehensive assessment of such patients combining established scales, objective clinical tests, and the ICF is recommended...
  77. pmc Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    Haiyan Zhou
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
    Neuromuscul Disord 20:166-73. 2010
    ..We conclude that RYR1 mutations may give rise to both myopathies and atypical periodic paralysis, and RYR1 mutations may underlie other unresolved cases of periodic paralysis with unusual features...
  78. ncbi The collagen VI-related myopathies: muscle meets its matrix
    CARSTEN G BONNEMANN
    National Institutes of Health, PO Box 5801, Bethesda, MD 20824, USA
    Nat Rev Neurol 7:379-90. 2011
    ....
  79. ncbi A descriptive and prognostic study of systemic sclerosis-associated myopathies
    B Ranque
    Universite Paris Descartes, UPRES EA 4058, Department of Internal Medicine, French National Reference Center for Systemic Sclerosis and Necrotizing Vasculitides, Hopital Cochin, Assistance Publique des Hopitaux de Paris, Paris, France
    Ann Rheum Dis 68:1474-7. 2009
    ..To describe the clinical characteristics and muscle pathological features of patients with systemic sclerosis (SSc) and myopathy and analyse their impact on muscle outcome...
  80. ncbi Therapy of collagen VI-related myopathies (Bethlem and Ullrich)
    Luciano Merlini
    Laboratory of Myology, Department of Medical Genetics, University of Ferrara, Ferrara, Italy
    Neurotherapeutics 5:613-8. 2008
    ..The need to develop alternative outcome measures or biomarkers using platforms such as genomics and proteomics is stressed in this context...
  81. ncbi Skeletal muscle effects of electrostimulation after COPD exacerbation: a pilot study
    A Abdellaoui
    Inserm U1046, Clinique du Souffle La Vallonie Fontalvie, 800 avenue Joseph Vallot, 34700 Lodève, France
    Eur Respir J 38:781-8. 2011
    ..Finally, we observed a significant increase in type I fibre proportion in the NMES group. Our study shows that following COPD exacerbation, NMES is effective in counteracting muscle dysfunction and decreases muscle oxidative stress...
  82. 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...
  83. pmc A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation
    Julien Ochala
    Department of Neuroscience, Clinical Neurophysiology, Uppsala University, Uppsala, Sweden
    Proc Natl Acad Sci U S A 107:9807-12. 2010
    ....
  84. ncbi Disrupted fat distribution and composition due to medium-chain triglycerides in mice with a β-oxidation defect
    Sara Tucci
    Department of General Pediatrics, University Children s Hospital, Dusseldorf, Germany
    Am J Clin Nutr 94:439-49. 2011
    ....
  85. ncbi A comprehensive description of muscle symptoms associated with lipid-lowering drugs
    Sylvia Franc
    Department of Endocrinology, Hopital de la Pitie Salpetriere, Assistance Publique Hopitaux de Paris, 83 bd de l hopital, 75013 Paris, France
    Cardiovasc Drugs Ther 17:459-65. 2003
    ..A spectrum of disease from myalgia to rhabdomyolysis exists as classic side-effect of lipid-lowering treatment (LLT). While myopathy has generated considerable interest, mild musculo-skeletal symptoms are poorly assessed...
  86. ncbi Alcoholic skeletal muscle myopathy: definitions, features, contribution of neuropathy, impact and diagnosis
    V R Preedy
    Department of Nutrition and Dietetics, King s College London, UK
    Eur J Neurol 8:677-87. 2001
    ..In addition to the mechanical changes to muscle, there are important metabolic consequences, by virtue of the fact that skeletal muscle is 40% of body mass and an important contributor to whole-body protein turnover...
  87. ncbi Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation
    Emmanuelle Uro-Coste
    Department of Pathology, Rangueil University Hospital, TSA 50032, 31059 Toulouse Cedex 9, France
    Neuromuscul Disord 19:163-6. 2009
    ..Her daughter presented at birth with a cardiomyopathy without any skeletal muscle involvement. This report underlines the clinical variability of MSM even with a given mutation or in a same family...
  88. pmc Professional athletes suffering from familial hypercholesterolaemia rarely tolerate statin treatment because of muscular problems
    H Sinzinger
    Wilhelm Auerswald Atherosclerosis Research Group ASF Vienna, Institute for Diagnosis and Treatment of Atherosclerosis and Lipid Disorders ATHOS, Vienna, Austria
    Br J Clin Pharmacol 57:525-8. 2004
    ..Muscular problems are the major group of side-effects during statin treatment. They are known to occur much more frequently during and after exercise...
  89. pmc Antimalarial myopathy: an underdiagnosed complication? Prospective longitudinal study of 119 patients
    E Casado
    Rheumatology Unit, Parc Taulí University Hospital, Parc Taulí s n 08208 Sabadell, Barcelona, Spain
    Ann Rheum Dis 65:385-90. 2006
    ..To evaluate the prevalence and incidence of antimalarial myopathy in patients with rheumatic diseases treated with antimalarial drugs...
  90. ncbi Hydroxychloroquine-induced toxic myopathy causing respiratory failure
    Anita K Siddiqui
    Division of Pulmonary and Critical Care Medicine, Department of Medicine, Long Island Jewish Medical Center, New Hyde Park, NY, USA
    Chest 131:588-90. 2007
    ..Clinicians should be aware of this unusual complication of antimalarials, as discontinuation of the agent may result in clinical improvement...
  91. ncbi Incidence, risk, and prevention of hamstring muscle injuries in professional rugby union
    John H M Brooks
    Rugby Football Union, Twickenham, United Kingdom
    Am J Sports Med 34:1297-306. 2006
    ..The incidence of hamstring muscle injuries in professional rugby union is high, but evidence-based information on risk factors and injury-prevention strategies in this sport is limited...
  92. ncbi MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies
    R Stramare
    Department of Medical Diagnostic Sciences and Special Therapies, University of Padova, Via Giustiniani 2, 35128, Padova, Italy
    Radiol Med 115:585-99. 2010
    ..The continuous discovery of new subtypes of neuromuscular disorders demands more accurate imaging analyses. We set out to establish the specific patterns of muscular involution using magnetic resonance imaging (MRI)...
  93. pmc Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement
    Eric S Folker
    Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 108:131-6. 2011
    ..Nesprin-2G TAN lines also slipped in SUN2-depleted cells. Our results establish A-type lamins as anchors for nesprin-2G-SUN2 TAN lines to allow productive movement and proper positioning of the nucleus by actin...
  94. ncbi Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Arch Neurol 65:1083-90. 2008
    ..Mutations in other MyHC isoforms cause myopathy. It is unknown whether MYH3 mutations cause myopathy because muscle tissue has not been studied...
  95. ncbi Safety evaluation of telbivudine
    David Yiu Kuen But
    University of Hong Kong, Queen Mary Hospital, Department of Medicine, Pokfulam Road, Hong Kong SAR, China
    Expert Opin Drug Saf 9:821-9. 2010
    ..5- to 6.6-log copies/ml hepatitis B DNA reduction at 12 weeks in an early viral kinetic study, a potency comparable to entecavir. It is also one of the few drugs in the treatment of CHB under FDA pregnancy Category B...
  96. ncbi Neurological complications of sepsis: critical illness polyneuropathy and myopathy
    E Hund
    Department of Neurology, Ruprecht Karls University, Heidelberg, Germany
    J Neurol 248:929-34. 2001
    ..Stabilization of the underlying critical condition and elimination of sepsis appear to be of major importance. Steroids and muscle relaxants should be avoided or administered at the lowest dose possible...
  97. ncbi Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
    Montse Olive
    Institute of Neuropathology, Department of Pathology, IDIBELL Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain
    Neuromuscul Disord 21:533-42. 2011
    ....
  98. ncbi A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
    Saida Ortolano
    Department of Pathology and Neuropathology, University Hospital of Vigo Meixoeiro, Vigo, Spain
    Neuromuscul Disord 21:254-62. 2011
    ....
  99. pmc Prolonged QT interval and lipid alterations beyond β-oxidation in very long-chain acyl-CoA dehydrogenase null mouse hearts
    Roselle Gélinas
    Department of Nutrition, Universite de Montreal, Montreal, Quebec, Canada
    Am J Physiol Heart Circ Physiol 301:H813-23. 2011
    ..Our finding of a longer QTc interval in VLCAD null mice appears to be most relevant given that such condition increases the risk of sudden cardiac death...
  100. ncbi Critical illness polyneuropathy and myopathy in the intensive care unit
    Wolfgang Zink
    Department of Anesthesiology, University of Regensburg, Germany
    Nat Rev Neurol 5:372-9. 2009
    ..This article provides an overview of the clinical and diagnostic features of CIP and CIM and discusses current pathophysiological and therapeutic concepts relating to these neuromuscular disorders...
  101. pmc Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
    Luciano Merlini
    Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, I 44100 Ferrara, Italy
    Proc Natl Acad Sci U S A 105:5225-9. 2008
    ....

Research Grants64

  1. Dynamics of Kinesins, Dyneins, and Myosins
    Paul R Selvin; Fiscal Year: 2010
    ..nervous-system disorders such as Alzheimer's, Huntington's and Parkinson's Disease, and muscular diseases such as heart disease, high blood pressure, and uterine problems, all arise from molecular motors gone awry...
  2. Role of murine induced pluripotent stem cells on the correction of cardiac and sk
    Diego Fraidenraich; Fiscal Year: 2010
    ..In these application we propose to challenge the murine iPS cells in two muscular diseases (heart and skeletal muscle) that we showed can be corrected by ES cell treatment...
  3. BIOGENESIS OF THE MITOCHONDRIAL INNER MEMBRANE
    Carla M Koehler; Fiscal Year: 2013
    ..Defects in the mitochondrion, the energy-producing unit of the cell, lead to a wide range neural and muscular diseases caused by decreased energy production, free radical damage, and perturbations to apoptotic pathways...
  4. Characterization of redox-mediated protein in mitochondria
    SONYA ELINA NEAL; Fiscal Year: 2013
    ..public health because mitochondrial dysfunction has been linked to a broad range of neurodegenerative and muscular diseases such as cardiac ischemia and perfusion injury, mitochondrial myopathies and neuropathies and general ..
  5. Autophagy
    Andrew D Robertson; Fiscal Year: 2011
    ..dysfunction has been associated with cancer, metabolic disorders, different types of immune disorders, muscular diseases and neurodegeneration...
  6. Power Tower: A Novel Paradigm for Exercsie Training in Drosophila melanogaster
    ROBERT JOHN WESSELLS; Fiscal Year: 2012
    ..Heart Lung and Blood Institute because the identification of key genetic components of the response will allow design of treatments and prevention programs for degenerative muscular diseases and age-related decline in muscular function.
  7. Study of redox regulated pathways in the mitochondrion
    DEEPA VINAY DABIR; Fiscal Year: 2010
    ..This project is important to public health because defective mitochondria contribute to a broad range of neurodegenerative and muscular diseases as well as aging.
  8. Mechanisms Regulating Myoblast Fusion in Drosophila
    Mary K Baylies; Fiscal Year: 2010
    ..mammals allows us to use the simpler Drosophila system to make relevant discoveries for treatments of human muscular diseases and of muscle wasting due to aging and chemotherapies...
  9. Engineering a Functional Skeletal Muscle
    Nenad Bursac; Fiscal Year: 2012
    ..PUBLIC HEALTH RELEVANCE: A variety of muscular diseases and injuries, including muscular dystrophy, craniofacial defects, traumatic injury and cardiac infarction ..
  10. MECHANISM OF BOTULINUM NEUROTOXIN ACTION
    Bal Ram Singh; Fiscal Year: 1999
    ..the neuro-muscular junctions, the neurotoxins are being used as therapeutic agents to treat several neuro- muscular diseases such as blepharospasm, strabismus, torticollis, etc...
  11. Small molecule modulators for mitochondrial protein import
    Carla Koehler; Fiscal Year: 2009
    ..will develop small molecules as probes to investigate the cause of neurodegenerative and degenerative muscular diseases that are initiated by defects in mitochondrial function, using yeast as a model system because protein ..
  12. Development of a Biomarker for Fatigue in HIV/AIDS
    Joachim Voss; Fiscal Year: 2007
    ..Dr. Dallakas has been selected as mentor due to his expertise in muscular diseases and his accomplishments in the identification of mitochondrial intoxication in men and women with HIV, ..
  13. Altered phosphodiesterase expression in diseased muscle
    TIMOTHY BLOOM; Fiscal Year: 2007
    ..important regulator of energy metabolism in skeletal muscle, and its metabolism is altered in degenerative muscular diseases such as Duchenne muscular dystrophy...
  14. Regions of Na channel involved in permeation and gating
    Nipavan Chiamvimonvat; Fiscal Year: 2002
    ..Several hereditary cardiac and muscular diseases have now been linked to mutations in Na+ channels, e.g., one form of congenital long QT syndrome (LQT3)...
  15. Cardiolipin remodeling and its role in mitochondrial function in Barth Syndrome
    Carla Koehler; Fiscal Year: 2007
    ..Mitochondrial dysfunction contributes to a broad range of neural and muscular diseases including cardiomyopathy and neutropenia associated with the X-linked disease Barth Syndrome, which is ..
  16. DMD GENE THERAPY USING HSV/AAV HYBRID VECTOR SYSTEM
    Yaming Wang; Fiscal Year: 2002
    ..Wang into gene therapy of muscular diseases and from a research associate to an independent academic investigator and application R01 level funding...
  17. CLONING AN ESSENTIAL MUSCLE-AFFECTING GENE IN C.ELEGANS
    LEE VENOLIA; Fiscal Year: 1992
    ..to vertebrate muscles, thus knowledge gained in this system may ultimately aid in the treatment of human muscular diseases and injuries...
  18. CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASE
    Salvatore DiMauro; Fiscal Year: 2007
    ....
  19. MOLECULAR GENETICS OF RETT SYNDROME
    Eric Hoffman; Fiscal Year: 2001
    ..Detailed physical mapping to define physical rearrangements in Xq28 will serve as a basis for testing candidate expressed sequence tags (ESTs) from within the critical region and for eventual gene and protein characterization. ..
  20. Integrated Standardized Express. Analytical Tools
    Eric Hoffman; Fiscal Year: 2003
    ..abstract_text> ..
  21. MOLECULAR GENETIC STUDIES OF RECURRENT PREGNANCY LOSS
    Eric Hoffman; Fiscal Year: 2002
    ..This proposal represents a synergistic collaboration between a laboratory well versed in molecular analysis of inherited traits, and clinicians and epidemiologists with considerable expertise in women's health issues. ..
  22. Molecular Physiology of Neuromusclar Diseases
    Stephen Cannon; Fiscal Year: 2007
    ..abstract_text> ..
  23. Contractures: Molecular Remodeling of MTJ and Muscle
    Eric Hoffman; Fiscal Year: 2005
    ..All profiles with the MTJ expression signatures will be released to the public via our existing Oracle Web database. The MTJs will be isolated by laser capture microscopy well established in the laboratory. ..
  24. Functional SNPs Associated with Human Muscle Size and Strength
    Eric P Hoffman; Fiscal Year: 2010
    ..In addition, the understanding of genetic variation also will impact our knowledge of basic biochemical pathways dictating muscle structure and function. ..
  25. A FUNCTIONAL GENOMICS HEART & LUNG DEVELOP. PROGRAM
    Eric Hoffman; Fiscal Year: 2003
    ..abstract_text> ..
  26. Functional SNP's Assoc with Human Muscle Size & Strength
    Eric Hoffman; Fiscal Year: 2004
    ..The increase in understanding of normal human variation in muscle structure and function will have implications for both health (sports performance) and disease (sarcopenia during aging, atrophy during space flight). ..
  27. Myocardial Protein Synthesis After Thermal Injury
    Charles Lang; Fiscal Year: 2005
    ..Overall, the research will elucidate the mechanisms by which myocardial protein synthesis is reduced after thermal injury, leading to the better understanding and treatment of the resulting cardiomyopathy. - ..
  28. The Molecular Basis of CMD Types Ullrich and Bethlem
    Carsten Bonnemann; Fiscal Year: 2009
    ..Knowledge about these pathways is a prerequisite for developing effective treatment strategies in this new and important group of muscle disorders. ..
  29. NEUROBIOLOGY OF CHRONIC MUSCLE PAIN
    Kathleen Sluka; Fiscal Year: 2003
    ..These proposed studies will help in the understanding and thus potential treatment of chronic muscle pain, including such conditions as fibromyalgia, myofascial pain and low back pain. ..
  30. Central contributions to pathobiology of fibromyalgia
    Kathleen Sluka; Fiscal Year: 2009
    ..A better understanding of the pathobiological mechanisms underlying musculoskeletal pain conditions may lead to the development of novel therapeutic approaches for its treatment. ..
  31. The Effect of Statins on Skeletal Muscle Function
    PAUL DAVIS THOMPSON; Fiscal Year: 2010
    ....
  32. GENE CAUSING PAGET & LIMB-GIRDLE MUSCULAR DYSTROPHY
    Virginia Kimonis; Fiscal Year: 2003
    ..Delineation of the genetic component responsible for the LGMD/PDB phenotype should promise similar insight and facilitate in the design of novel treatment protocols for the two disorders. ..
  33. Neurobiology of Joint Manipulation Induced Analgesia
    Kathleen Sluka; Fiscal Year: 2003
    ..This information will further assist the clinician in determining the treatment of choice for a particular patient and potentially guide future clinical research. ..
  34. INTRAOPERATIVE MEASUREMENT IN CEREBRAL PALSY SURGERY
    Richard Lieber; Fiscal Year: 2003
    ..In addition, these data will be relevant to management of other disorders such as stroke, head injury and spinal cord injury, where surgical tendon transfers are performed. ..
  35. Characterization of myostatin and GDF-11
    Se Jin Lee; Fiscal Year: 2007
    ..abstract_text> ..
  36. Role of ASIC3 in the etiology of fibromyalgia
    Kathleen A Sluka; Fiscal Year: 2010
    ..These studies could lead to peripherally based therapeutic approaches to control pain without undesirable CMS (central nervous system) side effects, including gene therapy. ..
  37. Antiretroviral-Induced Defects in Muscle Protein Synthesis
    Charles H Lang; Fiscal Year: 2010
    ..Such data is needed to both realize the full potential and avoid possible pitfalls of this drug in the long-term treatment of HIV-infected individuals. ..
  38. COLLABORATIVE R01
    Rhonda Bassel Duby; Fiscal Year: 2002
    ..In this iterative manner, the investigators expect to gain knowledge that ultimately will foster the development of cell transplantation strategies to promote myocardial repair in human patients afflicted with heart failure. ..
  39. Direct Determination of Lower Extremity of Muscle Design
    Richard Lieber; Fiscal Year: 2009
    ..This data, once available to the biomechanical community will propel this field to the next level and enable development of meaningful new surgical procedures and objective methods of evaluating human musculoskeletal function. ..
  40. Genetic basis of myopathy with Paget disease of bone
    Virginia Kimonis; Fiscal Year: 2008
    ..e. effect on ATPase activity, protein-protein interactions, and hexamer formation). Study the VCP specific pathways in C2C12 cell lines (stably transfected wt and R155H VCP) during differentiation and under stress conditions...
  41. MYOCARDIAL PROTEIN SYNTHESIS AFTER ALCOHOL INTOXICATION
    Charles H Lang; Fiscal Year: 2010
    ..Overall, the research design will establish the mechanism by which myocardial protein synthesis is reduced in response to alcohol abuse. ..
  42. Neurobiology of Musculoskeletal Pain
    Kathleen Sluka; Fiscal Year: 2005
    ..These proposed studies are intended to help in the understanding and thus potential treatment of chronic muscle pain including such conditions as fibromyalgia, myofascial pain and low back pain. ..
  43. Characterization of Familial Myopathy & Paget Disease
    Virginia Kimonis; Fiscal Year: 2005
    ..Elucidation of the genetic defect will help us understand the pathogenesis of this multifaceted disorder and hopefully result in specific therapy. ..
  44. Myostatin in Muscle Growth and Regeneration
    Kathryn Wagner; Fiscal Year: 2005
    ..In addition to the ultimate goal of providing clinical applications for muscle disease, this multidisciplinary approach should provide excellent training for a career integrating clinical myology and molecular neuroscience. ..
  45. Effects of EECP on Arterial Function
    RANDY BRAITH; Fiscal Year: 2006
    ..Only through identification of specific mechanisms behind the efficacy of EECP, will this treatment oDtion receive acceptance by the clinical community in the treatment of svmptomatic CAD. ..
  46. ROLE OF MYOSTATIN IN CACHEXIA
    Se Jin Lee; Fiscal Year: 2005
    ..abstract_text> ..
  47. Gene Expression in Inflammatory Myopathies
    Steven Greenberg; Fiscal Year: 2005
    ..This work may provide further diagnostic approaches to these disorders and contribute to the understanding of their pathogenesis. ..
  48. Pathogenesis of a Novel Limb-Girdle Muscular Dystrophy
    Michio Hirano; Fiscal Year: 2003
    ..For the patients, achieving the proposed goals will allow more accurate prenatal diagnosis, genetic counseling, and perhaps contribute to more rational therapies in the future. ..
  49. Skeletal Muscle Injury: Mechanism Prevention & Treatment
    Richard Lieber; Fiscal Year: 2007
    ..These studies not only provide insights into the damage mechanism, but also shed light on important structure-function relationships in normal muscle. ..
  50. APS Travel Award
    Kathleen Sluka; Fiscal Year: 2007
    ..C. These funds will allow trainees to attend and interact with both clinicians and researchers from multiple disciplines including medicine, nursing, psychology, and physical therapy. [unreadable] [unreadable] [unreadable]..
  51. Diaphragm Mitochondrial Alterations in Sepsis
    Leigh Callahan; Fiscal Year: 2004
    ..These data suggest that the proposed experiments should provide important information regarding the pathogenesis of mitochondrial dysfunction in sepsis. ..
  52. Oxidant Mediated Diaphragm Dysfunction in Diabetes
    Leigh Callahan; Fiscal Year: 2009
    ..abstract_text> ..
  53. FMRI in Pre-Symptomatic PS1-related Alzheimer's Disease
    John Ringman; Fiscal Year: 2005
    ..UCI, with its strong dementia research program, growing MRI capabilities and opportunity to collaborate at the nearby UCLA Brain Imaging Center, is an excellent environment for this endeavor. ..
  54. COLLAGEN IV CHAINS IN KIDNEY DEVELOPMENT AND FUNCTION
    JEFFREY MINER; Fiscal Year: 2002
    ..The results obtained under the auspices of this proposal will have important implication for the pathogenesis of Alport syndrome in man and for approaches current under development that will use gene therapy to treat the human disease. ..
  55. PD GWAS Consortium
    Tatiana M Foroud; Fiscal Year: 2010
    ....
  56. PKC-EHN-PKD signal complex in cardiac remodeling
    Masahiko Hoshijima; Fiscal Year: 2009
    ..abstract_text> ..
  57. COGNITIVE AND GENETIC CORRELATES OF EARLY MATH SKILLS
    MICHELE MAZZOCCO; Fiscal Year: 2006
    ..abstract_text> ..
  58. SATELLITE CELLS AND MUSCLE HYPERTROPHY: ROLE OF IGF-I
    Gregory Adams; Fiscal Year: 2003
    ..The proposed experiments will elucidate the role of the IGF-1 signaling system in the hypertrophy process. ..
  59. Female Pelvic Floor Disorders and Sexual Functions
    Victoria Handa; Fiscal Year: 2007
    ..This powerful combination will provide the candidate with the necessary skills and experience to become a successful, independently funded investigator. [unreadable] [unreadable]..
  60. Back Disorders in Union Carpenters
    Hester Lipscomb; Fiscal Year: 2006
    ..The project addresses a number of areas of expressed interest to NIOSH including construction workers, back disorders, surveillance methods and health services research. [unreadable] [unreadable]..
  61. Multi-Tracer PET Quantitation of Insulin Action
    Bret Goodpaster; Fiscal Year: 2009
    ..Resistance to the action of insulin to stimulate glucose uptake into muscle is a major risk factor to develop diabetes. This proposed research will identify causes for type 2 diabetes and point to new targets for effective treatment. ..