neuromuscular diseases

Summary

Summary: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.

Top Publications

  1. ncbi RNA-targeting approaches for neuromuscular diseases
    Florence Le Roy
    Genethon, CNRS UEVE UMR8587 LAMBE, 1, rue de l Internationale, 91000 Evry, France
    Trends Mol Med 15:580-91. 2009
  2. pmc Defective membrane remodeling in neuromuscular diseases: insights from animal models
    Belinda S Cowling
    Department of Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Illkirch, France
    PLoS Genet 8:e1002595. 2012
  3. pmc Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases
    Alan J Russell
    Preclinical Research and Development, San Francisco, California, USA
    Nat Med 18:452-5. 2012
  4. pmc Next generation sequencing for molecular diagnosis of neuromuscular diseases
    Nasim Vasli
    IGBMC Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1, rue Laurent Fries, BP10142, 67404, Illkirch, France
    Acta Neuropathol 124:273-83. 2012
  5. ncbi Early signs of critical illness polyneuropathy in ICU patients with systemic inflammatory response syndrome or sepsis
    A Tennilä
    Department of Anaesthesia and Intensive Care, Helsinki University Hospital, Finland
    Intensive Care Med 26:1360-3. 2000
  6. ncbi Nerve excitability testing and its clinical application to neuromuscular diseases
    Hiroyuki Nodera
    Department of Neurology, Graduate School of Medicine, Tokushima University, 2 50 1 Kuramoto, Tokushima 770 8503, Japan
    Clin Neurophysiol 117:1902-16. 2006
  7. ncbi The diagnosis of mitochondrial muscle disease
    Robert W Taylor
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Neuromuscul Disord 14:237-45. 2004
  8. ncbi Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders
    Susan Treves
    Dipartimento di Medicina Sperimentale e Diagnostica, Sezione Patologia Generale, Universita degli Studi di Ferrara, Via Borsari 46, 44100 Ferrara, Italy
    Neuromuscul Disord 15:577-87. 2005
  9. ncbi [Psychometric properties of a new instrument for evaluating quality of life, the WHOQOL-26, in a population of patients with neuromuscular diseases]
    A Leplege
    INSERM U292, Hopital de Bicetre, 78, Avenue du General Leclerc, 94275 Le Kremlin Bicetre
    Encephale 26:13-22. 2000
  10. ncbi The roles of carnosine in aging of skeletal muscle and in neuromuscular diseases
    H J Stuerenburg
    Neurological Department, University Hospital Hamburg Eppendorf, 20246 Hamburg, Germany
    Biochemistry (Mosc) 65:862-5. 2000

Detail Information

Publications237 found, 100 shown here

  1. ncbi RNA-targeting approaches for neuromuscular diseases
    Florence Le Roy
    Genethon, CNRS UEVE UMR8587 LAMBE, 1, rue de l Internationale, 91000 Evry, France
    Trends Mol Med 15:580-91. 2009
    ..These diverse strategies show tremendous therapeutic potential and several clinical trials have been initiated with Duchenne muscular dystrophy patients with promising results...
  2. pmc Defective membrane remodeling in neuromuscular diseases: insights from animal models
    Belinda S Cowling
    Department of Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, Illkirch, France
    PLoS Genet 8:e1002595. 2012
    ..This suggests (1) a common molecular pathway underlying these different neuromuscular diseases, and (2) tissue-specific regulation of these proteins...
  3. pmc Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases
    Alan J Russell
    Preclinical Research and Development, San Francisco, California, USA
    Nat Med 18:452-5. 2012
    ..Troponin activation may provide a new therapeutic approach to improve physical activity in diseases where neuromuscular function is compromised...
  4. pmc Next generation sequencing for molecular diagnosis of neuromuscular diseases
    Nasim Vasli
    IGBMC Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1, rue Laurent Fries, BP10142, 67404, Illkirch, France
    Acta Neuropathol 124:273-83. 2012
    ..An earlier genetic diagnosis should provide improved disease management and higher quality genetic counseling, and ease access to therapy or inclusion into therapeutic trials...
  5. ncbi Early signs of critical illness polyneuropathy in ICU patients with systemic inflammatory response syndrome or sepsis
    A Tennilä
    Department of Anaesthesia and Intensive Care, Helsinki University Hospital, Finland
    Intensive Care Med 26:1360-3. 2000
    ..To evaluate with electromyography the incidence and the time of appearance of neuromuscular abnormality in patients with systemic inflammatory response syndrome (SIRS) and/or sepsis...
  6. ncbi Nerve excitability testing and its clinical application to neuromuscular diseases
    Hiroyuki Nodera
    Department of Neurology, Graduate School of Medicine, Tokushima University, 2 50 1 Kuramoto, Tokushima 770 8503, Japan
    Clin Neurophysiol 117:1902-16. 2006
    ..Here, we review the basics of ion channel functions and membrane properties that influence nerve excitability, the basic principles of nerve excitability testing and the reported findings in various disorders...
  7. ncbi The diagnosis of mitochondrial muscle disease
    Robert W Taylor
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Neuromuscul Disord 14:237-45. 2004
    ..Here, we describe a step-by-step approach to the clinical and laboratory diagnosis of mitochondrial muscle disease, highlighting the many potential problems that can hinder reaching the correct diagnosis...
  8. ncbi Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders
    Susan Treves
    Dipartimento di Medicina Sperimentale e Diagnostica, Sezione Patologia Generale, Universita degli Studi di Ferrara, Via Borsari 46, 44100 Ferrara, Italy
    Neuromuscul Disord 15:577-87. 2005
    ....
  9. ncbi [Psychometric properties of a new instrument for evaluating quality of life, the WHOQOL-26, in a population of patients with neuromuscular diseases]
    A Leplege
    INSERM U292, Hopital de Bicetre, 78, Avenue du General Leclerc, 94275 Le Kremlin Bicetre
    Encephale 26:13-22. 2000
    ..05). The concurrent validity, studied using general QOL evaluation scores, satisfaction with health, and the importance of repercussions of incapacities on daily life was also globally demonstrated (p < 0.0001)...
  10. ncbi The roles of carnosine in aging of skeletal muscle and in neuromuscular diseases
    H J Stuerenburg
    Neurological Department, University Hospital Hamburg Eppendorf, 20246 Hamburg, Germany
    Biochemistry (Mosc) 65:862-5. 2000
    ..The incidence of several neuromuscular diseases (e.g...
  11. ncbi Genetics of neuromuscular disorders
    Nigel G Laing
    Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia
    Crit Rev Clin Lab Sci 49:33-48. 2012
    ..b>Neuromuscular diseases include some of the most devastating disorders that afflict mankind, for example motor neuron disease...
  12. ncbi Lung insufflation capacity in neuromuscular disease
    John Robert Bach
    Department of Physical Medicine and Rehabilitation, University of Medicine and Dentistry of New Jersey New Jersey Medical School, Newark, New Jersey, USA
    Am J Phys Med Rehabil 87:720-5. 2008
    ....
  13. pmc Manual muscle strength testing of critically ill patients: feasibility and interobserver agreement
    Catherine L Hough
    Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Washington, 325 Ninth Avenue, Mailstop 359762, Seattle, WA 98104, USA
    Crit Care 15:R43. 2011
    ..We studied the feasibility and interobserver agreement of this sum score in a mixed cohort of critically ill and injured patients...
  14. ncbi Diagnosis and treatment of enteric neuromuscular diseases
    Michael Camilleri
    Mayo Clinic, Charlton 8 110, 200 First St S W, Rochester, MN 55905, USA
    Clin Auton Res 13:10-5. 2003
    Gastrointestinal symptoms occur in a variety of neuromuscular diseases that may affect the neural access from the brain down to the peripheral nerve...
  15. ncbi Health related quality of life in people with hereditary neuromuscular diseases: an investigation of test-retest agreement with comparison between two generic questionnaires, the Nottingham health profile and the short form-36 items
    F Boyer
    Department of Physical Medicine and Rehabilitation, Sebastopol Hospital, Reims University Hospital Center, 48 rue de Sébastopol, 51092 Reims Cedex, France
    Neuromuscul Disord 16:99-106. 2006
    ..Health related quality-of-life (HRQoL) measures provide information on how patients assess their health and the care provision they are offered...
  16. ncbi Chronic respiratory failure in patients with neuromuscular diseases: diagnosis and treatment
    Ilma Aparecida Paschoal
    Pulmonology Department, State University at Campinas, School of Medical Sciences, Campinas, SP, Brazil
    J Bras Pneumol 33:81-92. 2007
    b>Neuromuscular diseases affect alveolar air exchange and therefore cause chronic respiratory failure...
  17. ncbi Cost of illness for neuromuscular diseases in the United States
    Jane Larkindale
    Muscular Dystrophy Association, 3300 E Sunrise Drive, Tucson, Arizona, 85718, USA
    Muscle Nerve 49:431-8. 2014
    ..We conducted a comprehensive study of the costs associated with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD). and myotonic dystrophy (DM) in the U.S...
  18. ncbi Value of muscle enzyme measurement in evaluating different neuromuscular diseases
    Yue Zhang
    Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China
    Clin Chim Acta 413:520-4. 2012
    ..However literatures that described and compared the muscle enzyme levels among these diseases are few. We described their changes in a group of Chinese patients...
  19. ncbi Responsiveness of the motor function measure in neuromuscular diseases
    Carole Vuillerot
    Hospices Civils de Lyon, Hopital Femme Mere Enfant, l Escale, Service de médecine physique et de réadaptation pédiatrique, Bron, France
    Arch Phys Med Rehabil 93:2251-6.e1. 2012
    ..To study the responsiveness (sensitivity to change) of the Motor Function Measure (MFM) in detecting change in neuromuscular disease patients with the intent of using this measure in future clinical trials...
  20. ncbi Localization of O-GlcNAc-modified proteins in neuromuscular diseases
    Seika Nakamura
    Department of Neurology and Brain Medical Research Center, Kansai Medical University, Osaka, Japan
    Med Mol Morphol 45:86-90. 2012
    ..Here, we immunolocalized O-GlcNAc-modified proteins in muscle biopsy specimens from 40 patients with neuromuscular diseases and controls. In normal muscle fibers, O-GlcNAc was found along plasma membranes and in nuclei...
  21. ncbi Exercise in neuromuscular diseases
    R Ted Abresch
    Department of Rehabilitation Medicine, University of California, Davis, 4860 Y Street Suite, 3850, Sacramento, CA 95817, USA
    Phys Med Rehabil Clin N Am 23:653-73. 2012
    ..reviews the current knowledge regarding the benefits and contraindications of exercise on individuals with neuromuscular diseases (NMDs)...
  22. ncbi Classification of employment factors according to the International Classification of Functioning, Disability and Health in patients with neuromuscular diseases: a systematic review
    Marie Antoinette Minis
    Department of Occupation and Health, prevention and reintegration, HAN University of Applied Sciences, Nijmegen, 6503 GL The Netherlands
    Disabil Rehabil 31:2150-63. 2009
    ..of the literature to identify health and contextual factors associated with employment in patients with neuromuscular diseases (NMD) and to perform a best evidence synthesis, taking into account the design of studies, methodological ..
  23. ncbi Stem cell therapies for neuromuscular diseases
    Terence A Partridge
    Muscle Cell Biology Group, MRC Clinical Sciences Centre, Hammersmith Hospital, Du Cane Road, London, W12 0NN
    Acta Neurol Belg 104:141-7. 2004
    ..For the latter especially, we need a degree of improvement that can only come from a better understanding of the mechanisms involved...
  24. ncbi Force tracking system for the assessment of grip force control in patients with neuromuscular diseases
    Gregorij Kurillo
    Faculty of Electrical Engineering, Laboratory of Robotics and Biomedical Engineering, University of Ljubljana, Trzaska 25, 1000 Ljubljana, Slovenia
    Clin Biomech (Bristol, Avon) 19:1014-21. 2004
    ..Tracking methods have been successfully used for the assessment of grip force control in stroke patients and patients with Parkinson's disease...
  25. ncbi Severe respiratory syncytial virus (RSV) infection in infants with neuromuscular diseases and immune deficiency syndromes
    Bernhard Resch
    Research Unit for Neonatal Infectious Diseases and Epidemiology, Division of Neonatology, Paediatric Department, Medical University of Graz, A 8036 Graz, Austria
    Paediatr Respir Rev 10:148-53. 2009
    ..There is growing evidence of severe RSV disease in infants with neuromuscular diseases and immune deficiency syndromes...
  26. ncbi Fatigue and neuromuscular diseases
    L Feasson
    Unité de Recherche PPEH EA 3062, Faculte de Medecine Jacques Lisfranc, Université Jean Monnet, Saint Etienne, France
    Ann Readapt Med Phys 49:289-300, 375-84. 2006
    To identify the role of fatigue, its evaluation and its causes in the pathophysiology context of acquired or hereditary neuromuscular diseases of the spinal anterior horn cell, peripheral nerve, neuromuscular junction and muscle.
  27. ncbi Investigating the minimum required number of genes for the classification of neuromuscular disease microarray data
    Argiris Sakellariou
    Biomedical Research Foundation, Academy of Athens, and the Department of Informatics and Telecommunications, National and Kapodistrian University of Athens, Athens 115 27, Greece
    IEEE Trans Inf Technol Biomed 15:349-55. 2011
    ..Five feature selection methods on datasets from ten different neuromuscular diseases were utilized...
  28. ncbi Alternatives to endotracheal intubation for patients with neuromuscular diseases
    Emilio Servera
    Rehabilitation and Ventilation Unit, Department of Respiratory Medicine, Hospital Clinico Universitario, Universitat de Valencia, Valencia, Spain
    Am J Phys Med Rehabil 84:851-7. 2005
    ..To evaluate the usefulness of continuous noninvasive mechanical ventilation and mechanical coughing aids to avoid endotracheal intubation and tracheostomy during episodes of acute respiratory failure in patients with neuromuscular disease...
  29. ncbi Neuromuscular diseases associated with chronic hepatitis C virus infection
    Joerg Patrick Stübgen
    Department of Neurology and Neuroscience, Cornell University Medical College New York Presbyterian Hospital, New York, NY 10065 4885, USA
    J Clin Neuromuscul Dis 13:14-25. 2011
    ..degrees of certainty, there is evidence of an association between chronic HCV infection and a variety of neuromuscular diseases. The pathogenesis of most extrahepatic diseases remains unclear but possibly includes HCV lymphotropism ..
  30. ncbi Integrated radiation hybrid map of human chromosome 2p13: possible involvement of dynactin in neuromuscular diseases
    D Korthaus
    Developmental Biology, University of Bielefeld, Germany
    Genomics 43:242-4. 1997
    The genes for the human neuromuscular diseases limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy are located on chromosome 2p13-p14, and two neuromuscular mutations of the mouse have been mapped to regions homologous to ..
  31. pmc Development and application of stereo camera-based upper extremity workspace evaluation in patients with neuromuscular diseases
    Gregorij Kurillo
    University of California at Berkeley College of Engineering, Department of Electrical Engineering and Computer Science, Berkeley, California, United States of America
    PLoS ONE 7:e45341. 2012
    ..A method to intuitively display and effectively analyze reachable workspace would not only complement traditional upper limb functional assessments, but also provide an innovative approach to quantify and monitor upper limb function...
  32. ncbi A novel modulation strategy to increase stimulation duration in neuromuscular electrical stimulation
    Ryan J Downey
    Department of Mechanical and Aerospace Engineering, University of Florida, Gainesville, Florida 32611 6250, USA
    Muscle Nerve 44:382-7. 2011
    ..The purpose of this study is to examine the effect of feedback-based frequency modulation on the closed-loop performance of the quadriceps during repeated dynamic contractions...
  33. ncbi Neuromuscular diseases and disorders of the alimentary system
    Vinay Chaudhry
    Department of Neurology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Meyer 6 119, Baltimore, Maryland 21287, USA
    Muscle Nerve 25:768-84. 2002
    This review outlines the relationship and interaction between neuromuscular diseases and disorders of the alimentary system. Neuromuscular manifestations of gastrointestinal and hepatobiliary diseases are first considered...
  34. ncbi Expiratory flow maneuvers in patients with neuromuscular diseases
    John R Bach
    Department of Physical Medicine and Rehabilitation, UMDNJ New Jersey Medical School, 150 Bergen Street, Newark, NJ 07871, USA
    Am J Phys Med Rehabil 85:105-11. 2006
    ....
  35. ncbi A motor function measure for neuromuscular diseases. Construction and validation study
    Carole Berard
    Department of Paediatric Rehabilitation, l Escale, Centre Hospitalier Lyon Sud, France
    Neuromuscul Disord 15:463-70. 2005
    A new scale for motor function measurement has been developed for neuromuscular diseases. The validation study included 303 patients, aged 6-62 years...
  36. ncbi Histochemical and immunohistological approach to comparative neuromuscular diseases
    Orlando Paciello
    Department of Pathology and Animal Health, University of Naples Federico II, Naples, Italy
    Folia Histochem Cytobiol 47:143-52. 2009
    The broad category of neuromuscular diseases covers conditions that involve the weakness or wasting of the body muscles. These problems may occur in the spinal cord, the peripheral nerves or the muscle fibers...
  37. ncbi Mitochondrial respiratory chain dysfunction in various neuromuscular diseases
    S Jongpiputvanich
    Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand
    J Clin Neurosci 12:426-8. 2005
    ..function and the occurrence of mitochondrial respiratory chain dysfunction were determined in various neuromuscular diseases. The mitochondrial complexes I-V and citrate synthase in the skeletal muscle taken from 75 orthopaedic ..
  38. ncbi [Noninvasive mechanical ventilation in patients with neuromuscular diseases and in patients with chest restriction]
    C Lisboa
    Departamento de Enfermedades Respiratorias Pontificia Universidad Católica de Chile Santiago Chile
    Arch Bronconeumol 39:314-20. 2003
  39. ncbi Pulmonary complications of chronic neuromuscular diseases and their management
    Christophe Perrin
    Division of Pulmonary, Critical Care, and Sleep Medicine, Tufts New England Medical Center, Tufts University School of Medicine, 750 Washington Street, Boston, Massachusetts 02111 1526, USA
    Muscle Nerve 29:5-27. 2004
    Chronic neuromuscular diseases may affect all major respiratory muscles groups including inspiratory, expiratory, and bulbar, and respiratory complications are the major cause of morbidity and mortality...
  40. pmc Coenzyme Q10 deficiencies in neuromuscular diseases
    Rafael Artuch
    Biochemistry Department, Hospital Sant Joan de Deu, Barcelona, Spain
    Adv Exp Med Biol 652:117-28. 2009
    ..This review updates the clinical and molecular aspects of both types of CoQ deficiencies and proposes new approaches to understanding their molecular bases...
  41. ncbi Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL)
    K A Vincent
    Department of Neurology, King s College Hospital and the Guy s, King s and St Thomas School of Medicine, King s College, University of London, UK
    Neurology 68:1051-7. 2007
    ..Because there is no muscle disease specific measure of quality of life (QoL), we wanted to develop and validate an individualized muscle disease specific measure of QoL for adults suitable for both clinical and research use...
  42. ncbi Experienced and physiological fatigue in neuromuscular disorders
    M L Schillings
    Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Clin Neurophysiol 118:292-300. 2007
    ..It might be caused both by changes at the peripheral and at the central level. This study measured the level of experienced fatigue and physiological correlates of fatigue in three genetically defined neuromuscular disorders...
  43. ncbi Microvasculopathic neuromuscular diseases: lessons from hypoxia-inducible factors
    Stefan Probst-Cousin
    Department of Neurology, Klinikum Bremen Ost, Bremen, Germany
    Neuromuscul Disord 20:192-7. 2010
    ..These observations suggest that the upregulation of hypoxia-related proteins may represent an adaptation mechanism of neuromuscular tissues to immune mediated deprivation of the blood supply...
  44. pmc A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy
    Yusuke Sakiyama
    Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Sakuragaoka, Kagoshima City, Japan
    Acta Neuropathol 121:775-83. 2011
    ..602C>T) in the mitochondrial tRNA(Phe) gene. This familial case of late-onset predominant axial myopathy and encephalopathy may represent a new clinical phenotype of a mitochondrial disease...
  45. ncbi Camptocormia: pathogenesis, classification, and response to therapy
    Shaheda N Azher
    Parkinson s Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
    Neurology 65:355-9. 2005
    ....
  46. ncbi The role of neurotrophins in muscle under physiological and pathological conditions
    Guillaume Chevrel
    Department of Neuroimmunology, Max Planck Institute of Neurobiology, Martinsried, Germany
    Muscle Nerve 33:462-76. 2006
    ..The goal of this review is to provide a basis for a better understanding and future studies on the role of these factors under such pathological conditions and for treatment of human muscle diseases...
  47. ncbi Animal models for genetic neuromuscular diseases
    Mariz Vainzof
    Dept of Genetics and Evolutionary Biology, University of Sao Paulo, Sao Paulo, Brasil
    J Mol Neurosci 34:241-8. 2008
    ..Several animal models, manifesting phenotypes observed in neuromuscular diseases, have been identified in nature or generated in laboratory...
  48. ncbi Impact of a home-based activity and dietary intervention in people with slowly progressive neuromuscular diseases
    David D Kilmer
    Department of Physical Medicine and Rehabilitation, University of California Davis Medical Center, Sacramento, CA 95817, USA
    Arch Phys Med Rehabil 86:2150-6. 2005
    ..To determine whether a home-based activity and dietary intervention can increase activity level, reduce caloric intake, and impact positively components of metabolic syndrome in a disabled population...
  49. ncbi Neuromuscular dysfunction acquired in critical illness: a systematic review
    Robert D Stevens
    Department of Anesthesiology Critical Care Medicine, Johns Hopkins University School of Medicine, 600 N Wolfe St, Meyer 8 140, Baltimore, MD 21287, USA
    Intensive Care Med 33:1876-91. 2007
    ..To determine the prevalence, risk factors, and outcomes of critical illness neuromuscular abnormalities (CINMA)...
  50. ncbi Initiation of home mechanical ventilation in children with neuromuscular diseases
    Suchada Sritippayawan
    Division of Pediatric Pulmonology, Childrens Hospital Los Angeles, California 90027, USA
    J Pediatr 142:481-5. 2003
    ..often home mechanical ventilation (HMV) is instituted electively in children with respiratory failure from neuromuscular diseases and whether there were opportunities to discuss therapeutic options with patients/families before ..
  51. ncbi The prion protein in human neuromuscular diseases
    Gabor G Kovacs
    National Institute of Psychiatry and Neurology, Budapest, Hungary
    J Pathol 204:241-7. 2004
    ..In addition, our observations suggest that PrPC may have a general stress-response effect in various neuromuscular disorders...
  52. ncbi Muscle-fiber apoptosis in neuromuscular diseases
    Dominique S Tews
    Edinger Institute, Johann Wolfgang Goethe University Hospital, Deutschordenstrasse 46, D 60528 Frankfurt am Main, Germany
    Muscle Nerve 32:443-58. 2005
    ..In contrast, certain neuromuscular diseases seem to involve characteristic expression patterns of apoptosis-related factors and pathways...
  53. ncbi Sleep disorders in neuromuscular diseases
    Upinder K Dhand
    Department of Neurology, Division of Pulmonary, Critical Care and Environmental Medicine, University of Missouri, Columbia, Missouri 65212, USA
    Curr Opin Pulm Med 12:402-8. 2006
    ..This paper reviews the mechanisms, diagnostic evaluation, and management of sleep disorders in various neuromuscular diseases.
  54. ncbi [A motor function measurement scale for neuromuscular diseases - description and validation study]
    C Berard
    Service de Rééducation Pédiatrique l Escale, Hospices Civille de Lyon, Centre Hospitalier Lyon Sud, Pierre Benite
    Rev Neurol (Paris) 162:485-93. 2006
    A new scale for motor function measurement has been developed for neuromuscular diseases. After the study of a preliminary and a first version, the validation study included 303 patients, aged 6 to 62 years...
  55. ncbi Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease
    Marcus Deschauer
    Department of Neurology, Martin Luther Universitat Halle Wittenberg, Halle Saale, Germany
    Arch Neurol 63:902-5. 2006
    ....
  56. ncbi Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis
    Steven A Greenberg
    Department of Neurology, Division of Neuromuscular Disease, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Ann Neurol 57:664-78. 2005
    ....
  57. ncbi Immunological methods for the analysis of protein expression in neuromuscular diseases
    Mariz Vainzof
    Departamento de Biologia, Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Methods Mol Biol 217:355-78. 2003
  58. ncbi Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review
    Edith H Cup
    Department of Occupational Therapy, Research Centre of Allied Health Care, Nijmegen, The Netherlands
    Arch Phys Med Rehabil 88:1452-64. 2007
    To summarize and critically appraise the available evidence on exercise therapy and other types of physical therapies for patients with neuromuscular diseases (NMD).
  59. ncbi Efficacy and tolerance of gastrostomy feeding in pediatric forms of neuromuscular diseases
    David Seguy
    Department of Nutrition, University Hospital and Medical School, Lille, France
    JPEN J Parenter Enteral Nutr 26:298-304. 2002
    ..PEG) is a simple and reliable method, but there are few data about its use in pediatric forms of neuromuscular diseases (NMD)...
  60. ncbi Classification of EMG signals using neuro-fuzzy system and diagnosis of neuromuscular diseases
    Sabri Koçer
    Department of Electronic and Computer Education, Faculty of Technical Education, Gazi University, Ankara, Turkey
    J Med Syst 34:321-9. 2010
    ..Coefficients that were obtained from the EMG signals using Autoregressive (AR) analysis was applied to neuro-fuzzy system. The classification performance of the feature sets was investigated for three classes...
  61. pmc Axial myopathies: an elderly disorder
    G Serratrice
    Faculte de Medecine, Méditerranée University of Marseille, France
    Acta Myol 26:11-3. 2007
  62. ncbi Speech pathology interventions in patients with neuromuscular diseases: a systematic review
    S Knuijt
    Research Centre for Allied Health Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Folia Phoniatr Logop 63:15-20. 2011
    A systematic review was conducted to summarize and evaluate the literature on the effectiveness of speech pathology interventions in adults with neuromuscular diseases.
  63. ncbi The role of future longitudinal studies in ICU survivors: understanding determinants and pathophysiology of weakness and neuromuscular dysfunction
    Catherine L Hough
    Department of Medicine, University of Washington, Seattle, Washington, USA
    Curr Opin Crit Care 13:489-96. 2007
    ..The goals of this review are to discuss the pathophysiology and determinants of muscle weakness and neuromuscular dysfunction after critical illness, and to offer thoughts regarding the role of future longitudinal studies in this area...
  64. ncbi Intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: present status and practical therapeutic guidelines
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4N248, 10 Center Drive MSC 1382, Bethesda, Maryland 20892 1382, USA
    Muscle Nerve 22:1479-97. 1999
    ..Finally, safety issues, risk factors, adverse reactions, spurious results or serological tests, and practical guidelines associated with the administration of IVIg in the treatment of neuromuscular disorders are presented...
  65. ncbi A review: the use of rituximab in neuromuscular diseases
    Homam Ibrahim
    The Methodist Hospital, Houston, TX, USA
    J Clin Neuromuscul Dis 12:91-102. 2010
    ..In this article, we review and discuss the available literature on rituximab in treatment of various autoimmune neuromuscular diseases.
  66. ncbi A framework for diagnosing and classifying intensive care unit-acquired weakness
    Robert D Stevens
    Division of Neurosciences Critical Care, Department of Anesthesiology Critical Care Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Crit Care Med 37:S299-308. 2009
    ..We propose a simple framework for diagnosing and classifying neuromuscular disorders acquired in critical illness...
  67. ncbi Intravenous immunoglobulin in autoimmune neuromuscular diseases
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
    JAMA 291:2367-75. 2004
    ..These mechanisms may explain the effectiveness of IVIG in autoimmune neuromuscular disorders...
  68. ncbi Assessing inspiratory muscle strength in patients with neurologic and neuromuscular diseases : comparative evaluation of two noninvasive techniques
    I Iandelli
    Fondazione Don C Gnocchi ONLUS, Section of Respiratory Rehabilitation, Pozzolatico, Firenze, Italy
    Chest 119:1108-13. 2001
    ..study was to assess whether mouth pressure during sniff maneuver (Pmosn) is a better index of inspiratory muscle strength than MIP in patients with neurologic and neuromuscular diseases (NNMD) with and without inspiratory muscle weakness.
  69. ncbi The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profile
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, National Institutes of Health, MSC 1382, Room 4N248, Building 10, 10 Center Drive, Bethesda, MD 20892 1382, USA
    Pharmacol Ther 102:177-93. 2004
    ..v.Ig with other immunosuppressive drugs...
  70. pmc Fatigue versus activity-dependent fatigability in patients with central or peripheral motor impairments
    Bruce H Dobkin
    Department of Neurology, University of California Los Angeles, Los Angeles, CA 90095, USA
    Neurorehabil Neural Repair 22:105-10. 2008
    ....
  71. ncbi Electron microscopy in neuromuscular disorders
    Carla Fernandez
    Department of Pathology and Neuropathology, Hopital de la Timone, Marseille, France
    Ultrastruct Pathol 29:437-50. 2005
    ..Moreover, electron microscopy gives insight on pathophysiological mechanisms and can guide molecular genetics analysis...
  72. ncbi Diagnostic immunohistochemistry in neuromuscular disorders
    D S Tews
    Edinger Institute of the Johann Wolfgang Goethe University, Frankfurt, Germany
    Histopathology 46:1-23. 2005
    ..Nevertheless, as well as the diagnostic value of immunocytochemical analysis it may also widen understanding of muscle fibre pathology as well as help in the development of therapeutic strategies...
  73. ncbi Hereditary neuromuscular diseases
    O Ozsarlak
    Department of Radiology, University Hospital Antwerp, Wilrijkstraat 10, B 2650 Edegem, Belgium
    Eur J Radiol 40:184-97. 2001
    This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments...
  74. ncbi The neuromuscular basis of hereditary kyphoscoliosis in the mouse
    L R Bridges
    Department of Histopathology, Charing Cross and Westminster Medical School, London, United Kingdom
    Muscle Nerve 15:172-9. 1992
    ..Peripheral nerves and anterior horn cells were normal. The findings indicate a neuromuscular basis of hereditary kyphoscoliosis in the mouse. The animal may be useful as a model of human muscle disease and scoliosis...
  75. ncbi Current concepts of respiratory complications of neuromuscular disease in children
    C M Schramm
    Department of Pediatrics, University of Connecticut School of Medicine, Hartford 06106, USA
    Curr Opin Pediatr 12:203-7. 2000
    Chronic neuromuscular diseases affect the respiratory muscles in varying patterns and degrees...
  76. ncbi Immunohistological analyses of neutral glycosphingolipids and gangliosides in normal mouse skeletal muscle and in mice with neuromuscular diseases
    M Cacic
    Department of Chemistry and Biochemistry, School of Medicine, University of Zagreb, Croatia
    Glycoconj J 12:721-8. 1995
    ..gangliosides was investigated in cryosections of normal mouse skeletal muscle and in muscle of mice with neuromuscular diseases using indirect immunofluorescence microscopy...
  77. ncbi Critical illness polyneuropathy
    Walther N K A van Mook
    Department of Intensive Care, University Hospital Maastricht, Maastricht, The Netherlands
    Curr Opin Crit Care 8:302-10. 2002
    ..Knowledge of CIP is essential for intensivists and other specialists who care for critically ill patients. This review summarizes the current available literature on this topic...
  78. ncbi 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands
    Carina Wallgren-Pettersson
    The Folkhälsan Department of Medical Genetics, University of Helsinki, PO Box 211, Topeliuksenkatu 20, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 14:56-69. 2004
  79. ncbi Nuclear envelope proteins and neuromuscular diseases
    Cecilia Ostlund
    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, Tenth Floor, New York, New York 10032, USA
    Muscle Nerve 27:393-406. 2003
    Several neuromuscular diseases are caused by mutations in emerin and A-type lamins, proteins of the nuclear envelope. Emery-Dreifuss muscular dystrophy is caused by mutations in emerin (X-linked) or A-type lamins (autosomal dominant)...
  80. pmc Fatigue is part of the burden of neuromuscular diseases
    John H J Wokke
    J Neurol 254:948-9. 2007
  81. ncbi Prevalence of neuromuscular diseases in Chinese children: a study in southern China
    Brian Chung
    Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pokfulam, China
    J Child Neurol 18:217-9. 2003
    Our objective was to study the prevalence of neuromuscular diseases in Chinese children. A prospective study of neuromuscular diseases in Chinese children was conducted from 1985 to 2001 in Hong Kong, which is a city in southern China...
  82. ncbi Persistent neuromuscular and neurophysiologic abnormalities in long-term survivors of prolonged critical illness
    Simon N Fletcher
    Intensive Care Unit and Department of Neurophysiology, St Bartholomew s Hospital, West Smithfield, London, UK
    Crit Care Med 31:1012-6. 2003
    ..To establish the prevalence, clinical characteristics, and electrophysiologic features of residual neuromuscular dysfunction after prolonged critical illness...
  83. ncbi Stem cell-mediated muscle regeneration and repair in aging and neuromuscular diseases
    A Musaro
    Department of Histology and Medical Embryology, CE BEMM and Interuniversity Institute of Myology, Sapienza University of Rome, Italy
    Eur J Histochem 51:35-43. 2007
    ....
  84. ncbi Multilevel nerve compression and muscle imbalance in work-related neuromuscular disorders
    Christine B Novak
    Division of Plastic and Reconstructive Surgery, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Am J Ind Med 41:343-52. 2002
    ..Work-related upper limb disorders have come under increasing scrutiny and become a frustrating problem...
  85. ncbi [Arrhythmia follow-up of children and adolescents with neuromuscular diseases]
    Y Dulac
    Cardiologie Pediatrique, Hôpital d Enfants, CHU Toulouse
    Arch Mal Coeur Vaiss 100:490-5. 2007
    Much progress has been made over the last few years in understanding and classifying neuromuscular diseases. The heart is frequently affected but often in a dissociated manner with respect to the neuromuscular signs although it has a ..
  86. ncbi Chronic respiratory care for neuromuscular diseases in adults
    N Ambrosino
    Dipartimento Cardio Toracico, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy
    Eur Respir J 34:444-51. 2009
    b>Neuromuscular diseases (NMD) may affect respiratory muscles, leading to respiratory failure. Studies show that long-term noninvasive mechanical ventilation (NIV) improves symptoms, gas exchange, quality of life and survival...
  87. ncbi [Analysis of 14 individuals who requested predictive genetic testing for hereditary neuromuscular diseases]
    Kunihiro Yoshida
    Division of Clinical and Molecular Genetics, Shinshu University Hospital, Third Department of Internal Medicine, Shinshu University School of Medicine
    Rinsho Shinkeigaku 42:113-7. 2002
    Predictive genetic testing for hereditary neuromuscular diseases is a delicate issue for individuals at risk and their families, as well as for medical staff because these diseases are often late-onset and intractable...
  88. ncbi Role of physical activity and exercise training in neuromuscular diseases
    William M Fowler
    Department of Physical Medicine and Rehabilitation, School of Medicine, University of California Davis, Davis, CA 95616, USA
    Am J Phys Med Rehabil 81:S187-95. 2002
    ..assessment of the state of the science regarding exercise training and fatigue in humans and animals with neuromuscular diseases. The conference comprised a nonfederal, nonadvocate, 20-member panel that brought together exercise ..
  89. ncbi Symptoms, clinical and physiological findings motivating home mechanical ventilation in patients with neuromuscular diseases
    Michael Laub
    Department of Respiratory Medicine, University Hospital, Lund, Sweden
    J Rehabil Med 38:250-4. 2006
    To clarify the relationship between symptoms, clinical signs and physiological abnormalities that were motivating the initiation of home mechanical ventilation in patients suffering from neuromuscular diseases.
  90. ncbi Use of support vector machines and neural network in diagnosis of neuromuscular disorders
    Nihal Fatma Güler
    Department of Electronics and Computer Education, Faculty of Technical Education, Gazi University, Teknikokullar, Ankara, Turkey
    J Med Syst 29:271-84. 2005
    ..Besides, these coefficients were tested both in ANN and SVM. The results show that SVM has high anticipation level in the diagnosis of neuromuscular disorders. It is proved that its test performance is high compared with ANN...
  91. pmc Performances in cerebellar and neuromuscular transmission tests are correlated in migraine with aura
    Anna Ambrosini
    Headache Clinic, IRCCS INM Neuromed, Via Atinense 18, 86077 Pozzilli, Isernia, Italy
    J Headache Pain 9:29-32. 2008
    ..Thus, we conclude that neuromuscular transmission and cerebellar functions are correlated in the same patient when affected by migraine with aura. We suggest that this correlation might be due to a common molecular abnormality...
  92. ncbi Accuracy of repetitive nerve stimulation for diagnosis of the cramp-fasciculation syndrome
    Taylor B Harrison
    Department of Neurology, Emory University, 101 Woodruff Circle, Suite 6000, Room 6103, Atlanta, Georgia 30322, USA
    Muscle Nerve 35:776-80. 2007
    ..These results suggest that CFS represents a form of peripheral nerve hyperexcitability and, furthermore, that RNS is a clinically useful test for CFS...
  93. ncbi Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular disease
    S Pillen
    Department of Clinical Neurophysiology, Institute of Neurology, Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 17:509-16. 2007
    ..Muscle thickness and quantitatively determined echo intensity of four muscles and the distribution of these variables within the body were examined...
  94. ncbi Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood
    Knut Brockmann
    Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany
    Neuromuscul Disord 17:517-23. 2007
    ..Accuracy of ultrasound was lower in younger children. High reliability of muscle sonography justifies a more widespread use of this method in evaluation of suspected NMD in childhood...
  95. ncbi Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study
    M M M Verhagen
    Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neuropediatrics 38:117-21. 2007
    ..With routine electrophysiological techniques the severe polyneuropathy precludes conclusions about the presence of anterior horn cell loss in older patients...
  96. ncbi A new motor performance test in a prospective study on children with suspected myopathy
    Willeke A van den Beld
    Interdisciplinary Child Neurology Centre and Department of Rehabilitation Medicine, University Medical Centre Nijmegen St Radboud, Nijmegen, The Netherlands
    Dev Med Child Neurol 48:739-43. 2006
    ..This non-invasive and child-friendly motor performance test can improve diagnostic procedure and, therefore, spare more children from unnecessary muscle biopsy...
  97. ncbi [The predominance of myopathy as a cause of intensive-care-unit-acquired paralysis: the diagnostic value of direct muscle stimulation]
    T Nordine
    Service de Physiologie, Explorations Fonctionnelles, Hopital Henri Mondor, Assistance Publique Hopitaux de Paris, Creteil
    Rev Neurol (Paris) 163:181-7. 2007
    ..In the intensive care unit (ICU) patients sometimes develop diffuse neuromuscular deficit resulting in flaccid tetraparesia with a more or less severe prognosis...
  98. ncbi Correction of neuromuscular scoliosis in patients with preexisting respiratory failure
    Inder Gill
    Department of Orthopaedics, Freeman Hospital, Newcastle upon Tyne, U K
    Spine (Phila Pa 1976) 31:2478-83. 2006
    ..A prospective observational study in scoliosis patients who were on noninvasive night ventilation for respiratory failure...
  99. ncbi Neuromuscular function in survivors of the acute respiratory distress syndrome
    Michael J Angel
    Department of Medicine, Division of Neurology, University Health Network, University of Toronto, Toronto, Ontario, Canada
    Can J Neurol Sci 34:427-32. 2007
    ..Persistent neuromuscular complications of ARDS may contribute to the functional disability observed in these patients...
  100. ncbi Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia
    C Fernandez
    Laboratoire d Anatomie Pathologique et Neuropathologie, Hopital de la Timone Adultes, Marseille, France
    Neurology 66:1585-7. 2006
    ..The probability of making a diagnosis was higher in children and when creatine kinase level was greater than 2,000 UI/L...
  101. ncbi Clinical applications of high-density surface EMG: a systematic review
    Gea Drost
    Department of Clinical Neurophysiology, Institute of Neurology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Electromyogr Kinesiol 16:586-602. 2006
    ..We additionally discuss several bioengineering aspects and future clinical applications of the technique and provide recommendations for further development and implementation of HD-sEMG as a clinical diagnostic tool...

Research Grants64

  1. Agrin/alpha 3 Na,K-ATPase signaling at the neuromuscular junction
    Martin A Smith; Fiscal Year: 2012
    ..b>Neuromuscular diseases such as the myasthenic disorders, spinal muscular atrophy, amyotrophic lateral sclerosis are characterized ..
  2. MR Monitoring of PTC124 Treatment in DMD
    KRISTA H VANDENBORNE; Fiscal Year: 2010
    ..DMD is one of the most devastating genetically linked neuromuscular diseases and is characterized by the absence of dystrophin, resulting in progressive muscle weakness, loss of ..
  3. Ca Signaling in Progression of Amyotrophic Lateral Sclerosis in Skeletal Muscle
    Jingsong Zhou; Fiscal Year: 2013
    ..We anticipate that information obtained from our research will apply to other neuromuscular diseases, such as aging, diabetes, Parkinson's disease and others, where altered Ca signaling and ..
  4. Defining a clinically relevant time point for astrocyte targeted therapy in ALS
    Brian K Kaspar; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS) is one of the most common neuromuscular diseases worldwide...
  5. Body Composition and Energy Utilization in Spinal Muscular Atrophy
    Douglas Michael Sproule; Fiscal Year: 2012
    ..in SMA, with the ultimate aim of impacting function and outcome of patients with SMA and other pediatric neuromuscular diseases through improvements in clinical care...
  6. Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
    KRISTA H VANDENBORNE; Fiscal Year: 2013
    ..DMD is one of the most devastating genetically linked neuromuscular diseases and is characterized by the absence of dystrophin, resulting in progressive muscle weakness, loss of ..
  7. TRAINING IN CLINICAL AND BASIC NEUROSCIENCE
    EVA LUCILLE FELDMAN; Fiscal Year: 2013
    ..We offer clinical science training in neurodegenerative disorders, neuromuscular diseases, sleep disorders, stroke, and systems neuroscience...
  8. Non-linear Characterization of the Stretch Reflex Arc and its Neuromodulation
    AMAN BEHAL; Fiscal Year: 2011
    ..important biological control system could (a) result in novel tools for the early detection/therapies of neuromuscular diseases such as Amyotrophic Lateral Sclerosis (ALS), (b) help explain certain pathological conditions such as ..
  9. NEXT-GENERATION SEQUENCING APPROACHES FOR NOVEL GENE DISCOVERY IN ALS
    Matthew Harms; Fiscal Year: 2013
    ..a clinical neurologist (MD) with a career goal of investigating the genetic and molecular basis of human neuromuscular diseases, focusing primarily on amyotrophic lateral sclerosis (ALS)...
  10. A device for rapid, painless, bedside muscle evaluation of children
    JOSE LUIS BOHORQUEZ; Fiscal Year: 2012
    ..PUBLIC HEALTH RELEVANCE: Over 100,000 children in the United States alone suffer from one or more serious neuromuscular diseases. However, current methods for diagnosing disease and assessing severity are insensitive and limited...
  11. Molecular Physiology of Myotonia and Periodic Paralysis
    Stephen C Cannon; Fiscal Year: 2013
    ..are designed to provide a more complete understanding of the pathophysiologic basis for a group of human neuromuscular diseases: from gene defect to clinical symptoms...
  12. Comprehensive mutation detection for Neuromuscular disorders: Bringing new techno
    Madhuri R Hegde; Fiscal Year: 2010
    ..e. DMD, SMA), an enormous clinical heterogeneity is observed. The precise diagnosis of neuromuscular diseases requires both an extensive clinical examination and targeted complementary tests that include biological ..
  13. Metabolite Profiling of a Novel Mitochondrial Kinase in Neuromuscular Disease
    Gregory A Cox; Fiscal Year: 2013
    ..by applicant): The goals of this proposal are to use metabolomics analysis to understand the mechanisms of neuromuscular diseases including a novel mouse mutation in Nadkd1, an uncharacterized NAD Kinase family member that localizes to ..
  14. CSHL RNA &Oligonucleotide Therapeutics Conference
    David J Stewart; Fiscal Year: 2013
    ..a significant proportion of presented science to be relevant to the treatment of neurological and neuromuscular diseases. Participants will be drawn from academic labs, research institutes and biotech/pharmaceutical industries, ..
  15. A New Family of Voltage-gated Potassium Channel Regulaory Subunits
    Steve A N Goldstein; Fiscal Year: 2011
    ..in accessory subunits and regulatory motifs have been seen to cause life- threatening cardiac arrhythmias, neuromuscular diseases like epilepsy and periodic paralysis...
  16. Mechanisms underlying myostatin regulation and activity
    Se Jin Lee; Fiscal Year: 2013
    ..in disease states characterized by debilitating muscle loss, including muscle degenerative diseases, neuromuscular diseases, cachexia, and age-related sarcopenia...
  17. Development of Novel Upper Extremity Outcome Measures Using 3D-Vision Technology
    Jay Han; Fiscal Year: 2013
    ..objective of this proposal is to develop a novel upper extremity outcome measure for clinical trials in neuromuscular diseases (NMDs)...
  18. Noninvasive assessment of neuromuscular diseases using electrical impedance
    Seward B Rutkove; Fiscal Year: 2010
    ..Thus, the overall goal of this project is to develop a handheld, noninvasive electrical impedance device that can perform accurate, rapid assessments of muscle health. ..
  19. Selectively inhibited transcription of mutant genes in neurodegenerative disease
    Stanley N Cohen; Fiscal Year: 2013
    ..expansions of multinucleotide repeats associated with other dominantly inherited neurodegenerative and neuromuscular diseases (NDs), suggesting that targeting the Supt4h/Supt5h complex may be a broadly applicable approach for ..
  20. The Dynamics of Synaptic Component at the Neuromuscular Junction of Living Animal
    Mohammed Akaaboune; Fiscal Year: 2013
    ..intervention and therapy that could increase synaptic transmission by increasing AChR number or density in neuromuscular diseases. Furthermore, it seems likely that some aspects of receptor recycling will be common to all cells, so we ..
  21. Olfactory receptor signaling in skeletal muscle
    Grace K Pavlath; Fiscal Year: 2013
    ..Myofibers with an abnormal branching cytoarchitecture are commonly found in various neuromuscular diseases as well as after severe muscle injury in various species, including human...
  22. Exploring a New Mouse Model of Locomotor Development
    MARTIN G HANSON; Fiscal Year: 2010
    ..of the possible causes of these birth defects and potential therapies for spinal cord injury and neuromuscular diseases. Many of the studies to date have focused on a small set of genes important in the identity of subtypes of ..
  23. The Relationship between Genomic Variants and MRI/MRS Markers in DMD
    Glenn Walter; Fiscal Year: 2013
    ..Duchenne muscular dystrophy (DMD) is one of the most devastating genetically linked neuromuscular diseases and affects one in 3,500-6,000 boys...
  24. Investigating the Role of Muscle-derived BDNF in Neuromuscular Disease Pathology
    ERICH NORSE OTTEM; Fiscal Year: 2011
    ..of transgenic mice suggests that the phenotype has characteristics similar to established models of neuromuscular diseases (NMDs) such as amyotrophic lateral sclerosis...
  25. Local Intravascular Delivery of Follistatin Gene Therapy for Muscular Dystrophy
    Sohyun Lee McElroy; Fiscal Year: 2012
    ..by applicant): Rare muscular dystrophies span a wide range of etiologies and symptoms but nearly all neuromuscular diseases are characterized by progressive muscle weakness that is unchecked by existing therapies...
  26. Inherited Neurophathies Consortium (RDCRC)
    Michael E Shy; Fiscal Year: 2013
    ..These are among the most common inherited neuromuscular diseases, affecting approximately 1 in 2500 people...
  27. WiFi-enabled hand-portable real-time force sensor to objectively assess strength
    DAVID GRANDIN; Fiscal Year: 2013
    ..only identifiable with kinetic measurement, helping to establish baselines for the rate and progression of neuromuscular diseases (ALS, MS, Parkinson's, etc.). Practitioners could then compare their patients to objective standards...
  28. Electrical impedance myography and quantitative ultrasound in Duchenne muscular d
    Seward B Rutkove; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Duchenne muscular dystrophy (DMD) is one of the most common neuromuscular diseases of children affecting approximately 1 in 3500 live male births, producing progressive muscle weakness and leaving ..
  29. Training in neuromuscular diseases
    JERRY ROY MENDELL; Fiscal Year: 2013
    ..postdoctoral researchers to continue making fundamental strides in ascertaining the causes and cures of neuromuscular diseases. The laboratories of Ohio State University and Nationwide Children's Hospital consist of 16 mentors ..
  30. Zebrafish models of muscular dystrophies
    LAURA LINDSAY SMITH; Fiscal Year: 2013
    ..of small molecules that slow or prevent derangements of skeletal muscle will set the stage for preclinical testing of new therapies that may be used to treat patients with muscular dystrophy and other related neuromuscular diseases.
  31. Respiratory Control in Old Age
    Gary C Sieck; Fiscal Year: 2013
    ..in old age, and thus permit the development of novel therapies with broad application in respiratory and neuromuscular diseases. The greater incidence of chronic diseases associated with the aging of our population demands concerted ..
  32. A Model System to Study Human Neuromuscular Disease
    Joy A Umbach; Fiscal Year: 2013
    ABSTRACT This project aims to develop and validate an in vitro model for studying human neuromuscular diseases. The planned experiments exploit recent advances in which human embryonic stem cells (hESCs) were differentiated into motor ..
  33. Effect of CoQ10 on Mild-to-Moderate Muscle Symptoms of Statin Users.
    Catherine Buettner; Fiscal Year: 2013
    ..is an essential cofactor in mitochondrial energy production and has been linked to the development of neuromuscular diseases. Because CoQ10 shares a common biosynthetic pathway with cholesterol, it has been hypothesized that ..
  34. Validation of a Disease-Specific Instrument for Pediatric Inherited Neuropathy
    Sindhu Ramchandren; Fiscal Year: 2013
    ..impact future efforts to identify therapeutic interventions that improve the QOL of patients with neuromuscular diseases. The PI's career development will be facilitated by an expert multidisciplinary Mentoring Committee, ..
  35. Summer Research Experience in Neurobiology
    Robert W Burgess; Fiscal Year: 2013
    ..These experienced mentors are leading cutting-edge, collaborative research programs into neurodevelopment, neuromuscular diseases, and neurodegeneration...
  36. Signaling by MuSK, a component of the Agrin receptor.
    STEVEN BURDEN; Fiscal Year: 2013
    ..As such, these studies are likely to shed new light into neuromuscular diseases, including amyotrophic lateral sclerosis, congenital myasthenia, myasthenia gravis and age-related muscle ..
  37. Robust Blink-based Communication System for Patients in Bed
    Michael D Devore; Fiscal Year: 2012
    ..people in the United States are diagnosed with amyotrophic lateral sclerosis (ALS), one of the most common neuromuscular diseases. The disease ultimately affects nearly all voluntary muscles, and patients typically lose the ability to ..
  38. A Microneedle Array System for Transcutaneous Nerve Mapping
    James Ross; Fiscal Year: 2010
    ..Ulti- mately, this development will facilitate medical and scientific discoveries that will enable the diagnosis and therapeutic treatment of neuromuscular diseases.
  39. Integrative pathophysiology of myotonic dystrophy
    Charles A Thornton; Fiscal Year: 2012
    ..environment that is ideal for new investigators who are interested in research translation as applied to neuromuscular diseases. The preliminary data indicate that oligonucleotides binding to CUGexp RNA can release sequestered ..
  40. Genes and Therapies for Centronuclear Myopathies
    Alan H Beggs; Fiscal Year: 2013
    ..the development of weakness in the mouse and zebrafish models used in this study will set the stage for preclinical testing of new therapies that may one day be used to treat children with these devastating neuromuscular diseases.
  41. An Integrated Platform for In Vivo Neuromuscular Stimulation and Recording Using
    James Ross; Fiscal Year: 2012
    ..The range of research and clinical applications includes the study of motor control and neuromuscular diseases and disorders, the implementation of prostheses to address conditions as far ranging as spinal-cord injury ..
  42. KCNQ2/3 channels in neonatal-onset epilepsy and encephalopathy
    Edward C Cooper; Fiscal Year: 2013
    ..compelling evidence now implicates a subset of KCNQ2 mutations in persistent and disabling CNS and neuromuscular diseases. KCNQ2 pedigrees exhibit painful myokymia (without seizures), myokymia after neonatal seizures, epilepsy ..
  43. Gene delivery to muscle and nerve for laminin-alpha2-deficient MD (MDC1A)
    Xiao Xiao; Fiscal Year: 2013
    ..The success of this research plan could be potentially translatable to MDC1A patients and to other neuromuscular diseases as well.
  44. Central Mechanisms of Airway Protection
    KENDALL FRANCIS MORRIS; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): A variety of neuromuscular diseases result in impaired cough (dystussia) and/or impaired swallow (dysphagia)...
  45. Translational Neuromuscular Research, Diverse Diseases, Convergent Themes
    Robert C Griggs; Fiscal Year: 2011
    ..explore the role of RNA metabolism as disease mechanism and as a potential therapeutic target in different neuromuscular diseases;(2) to examine the role of animal models in translational research in neuromuscular disease;(3) to discuss ..
  46. Treatment Strategies for Neuromuscular Diseases: The Challenge of Recruitment
    Robert C Griggs; Fiscal Year: 2010
    ..provided by applicant): This application proposes an international conference: "Treatment Strategies for Neuromuscular Diseases: The Challenge of Recruitment"...
  47. The Pathophysiology of CMT2A in Cell and Animal Models
    Stephan Zuchner; Fiscal Year: 2010
    ..dysfunction in relation to neuropathies is unknown, although involvement of mitochondrial dysfunction in neuromuscular diseases is well recognized...
  48. ANABOLIC ACTIONS OF INSULIN IN NEUROMUSCULAR DISEASE
    RICHARD MOXLEY; Fiscal Year: 1992
    ..To test this hypothesis patients with myotonic dystrophy, comparably wasted patients with other neuromuscular diseases, and normals will be studied...
  49. MECHANISM OF PC12 CELL ADHESION TO COLLAGEN AND LAMININ
    David Turner; Fiscal Year: 1991
    ..The results should ultimately contribute to a better understanding of neural development and neuromuscular diseases, several of which are thought to involve altered nerve-muscle interactions.
  50. Children's National Medical Center Application for NEXT
    Roger Packer; Fiscal Year: 2013
    ..in the development of national and international clinical trial consortia (including those for neuromuscular diseases)...
  51. 18th International Congress of the World Muscle Society
    Diane Shelton; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Neuromuscular diseases represent a heterogeneous group of disorders of muscle, peripheral nerve and the neuromuscular junction...
  52. X-LINKED CHARCOT-MARIE TOOTH DISEASE
    Thaddeus Kelly; Fiscal Year: 1990
    This project is one of several which combine molecular and clinical studies of X-linked neuromuscular diseases. Traditional genetic analysis has begun with delineation of a phenotype which is then investigated for familial aggregation and ..
  53. RNA Binding Proteins & Alternative Splicing
    Paula Grabowski; Fiscal Year: 2007
    ..Abnormalities in alternative splicing are associated with neurodegenerative, psychiatric and neuromuscular diseases, as well as various cancers...
  54. Novel Molecular Mechanisms of Neuromuscular Disease: Implications for Therapy
    Robert C Griggs; Fiscal Year: 2013
    ..provides perspective for trainees and junior faculty in the strategies for developing novel treatments for neuromuscular diseases. The setting and the meeting format are ideal for interaction/development of collaboration among ..
  55. New York MDSTARnet Feasibility of Expansion to other Muscular Dystrophies
    CHARLOTTE MARIE DRUSCHEL; Fiscal Year: 2013
    ..The worldwide prevalence of inherited neuromuscular diseases estimated in a review study was of 28.6/100,000 and 33.3/100,000 if rarer disorders are included...
  56. CHEMICAL MODELS OF PRESYNAPTIC NEUROMUSCULAR DISEASE
    WILLIAM ATCHISON; Fiscal Year: 1999
    ..study is to relate some of the defects in synaptic transmission associated with certain human presynaptic neuromuscular diseases to precise defects in nerve terminal function...
  57. CONTROL OF MYOSIN TYPES IN INDIVIDUAL MUSCLE FIBERS
    Neal Rubinstein; Fiscal Year: 1993
    ..controlling expression of MHC isoforms and to investigate hoe the regulation might go awry in human neuromuscular diseases. For the next few years,we plan to define the organization of human MHC genes on chromosome 17, to ..
  58. PHYSIOLOGIC BASIS OF MUSCLE FUNCTIONAL MRI
    RONALD MEYER; Fiscal Year: 2005
    ..functional magnetic resonance imaging (FMRI) methods for diagnosis and monitoring the progression of neuromuscular diseases and other fatigue syndromes...
  59. REGULATION OF SODIUM CHANNEL ISOFORM EXPRESSION IN VIVO
    Mark Rich; Fiscal Year: 2000
    ..Understanding the regulation of muscle gene expression will have implications for neuromuscular diseases where denervation plays a prominent role.
  60. MULTITASK ASSESSMENT OF MOTOR UNIT FATIGUE
    ANDREW FUGLEVAND; Fiscal Year: 1999
    ..is encountered in daily activities and in the workplace, it is a debilitating factor in a number of neuromuscular diseases including muscular dystrophy, myasthenia gravis, and multiple sclerosis, it has been implicated as a ..
  61. NEUROMUSCULAR TARGETS OF BOTULINUM TOXIN
    JULIE COFFIELD; Fiscal Year: 2006
    ..Ironically, botulinum toxin is also a valued drug used to treat neuromuscular diseases characterized by muscle spasticity...
  62. ANT Defects in Neurodegenerative Diseases
    Douglas Wallace; Fiscal Year: 2005
    ..To further define the role of ANT defects in neuromuscular diseases, we propose four Specific Aims. Specific Aim 1 is to investigate the pathophysiology of ANT1 disease...
  63. Genetic mechanism of spinocerebellar ataxia type 10
    MICHAEL TOPAL; Fiscal Year: 2007
    ..Repeat expansions in the human genome are responsible for more than thirty neurodegenerative and neuromuscular diseases, including the dominantly inherited diseases myotonic dystrophy types 1 and 2 (DM1 and DM2), Huntington&..
  64. Mechanism of Calcium Regulation in Striated Muscle
    Terence Tao; Fiscal Year: 2007
    ..Findings derived from this project will be relevant to the prevention, diagnosis and cure of certain neuromuscular diseases. Cardiac and skeletal muscle thin filament proteins share a great deal of similarity in amino acid ..