Genomes and Genes
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.
Publications225 found, 100 shown here
- RNA-targeting approaches for neuromuscular diseasesFlorence 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...
- Defective membrane remodeling in neuromuscular diseases: insights from animal modelsBelinda 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...
- Animal models for genetic neuromuscular diseasesMariz 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...
- Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disordersSusan 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....
- Coenzyme Q10 deficiencies in neuromuscular diseasesRafael 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...
- Pulmonary complications of chronic neuromuscular diseases and their managementChristophe 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. 2004Chronic 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...
- Camptocormia: pathogenesis, classification, and response to therapyShaheda 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....
- Development and application of stereo camera-based upper extremity workspace evaluation in patients with neuromuscular diseasesGregorij 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...
- Severe respiratory syncytial virus (RSV) infection in infants with neuromuscular diseases and immune deficiency syndromesBernhard 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...
- Force tracking system for the assessment of grip force control in patients with neuromuscular diseasesGregorij 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...
- Stem cell therapies for neuromuscular diseasesTerence 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...
- Fatigue and neuromuscular diseasesL 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. 2006To 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.
- Alternatives to endotracheal intubation for patients with neuromuscular diseasesEmilio 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...
- Neuromuscular diseases associated with chronic hepatitis C virus infectionJoerg 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 ..
- Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseasesAlan 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...
- A novel modulation strategy to increase stimulation duration in neuromuscular electrical stimulationRyan 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...
- Investigating the minimum required number of genes for the classification of neuromuscular disease microarray dataArgiris 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...
- Integrated radiation hybrid map of human chromosome 2p13: possible involvement of dynactin in neuromuscular diseasesD Korthaus
Developmental Biology, University of Bielefeld, Germany
Genomics 43:242-4. 1997The 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 ..
- The diagnosis of mitochondrial muscle diseaseRobert 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...
- Next generation sequencing for molecular diagnosis of neuromuscular diseasesNasim 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...
- Neuromuscular diseases and disorders of the alimentary systemVinay 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. 2002This 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...
- Mitochondrial respiratory chain dysfunction in various neuromuscular diseasesS 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 ..
- A motor function measure for neuromuscular diseases. Construction and validation studyCarole Berard
Department of Paediatric Rehabilitation, l Escale, Centre Hospitalier Lyon Sud, France
Neuromuscul Disord 15:463-70. 2005A new scale for motor function measurement has been developed for neuromuscular diseases. The validation study included 303 patients, aged 6-62 years...
- Expiratory flow maneuvers in patients with neuromuscular diseasesJohn 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....
- [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
- Microvasculopathic neuromuscular diseases: lessons from hypoxia-inducible factorsStefan 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...
- Histochemical and immunohistological approach to comparative neuromuscular diseasesOrlando Paciello
Department of Pathology and Animal Health, University of Naples Federico II, Naples, Italy
Folia Histochem Cytobiol 47:143-52. 2009The 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...
- Chronic respiratory care for neuromuscular diseases in adultsN Ambrosino
Dipartimento Cardio Toracico, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy
Eur Respir J 34:444-51. 2009b>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...
- 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...
- Efficacy and tolerance of gastrostomy feeding in pediatric forms of neuromuscular diseasesDavid 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)...
- Muscle-fiber apoptosis in neuromuscular diseasesDominique 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...
- The prion protein in human neuromuscular diseasesGabor 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...
- Initiation of home mechanical ventilation in children with neuromuscular diseasesSuchada 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 ..
- Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositisSteven 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....
- Immunological methods for the analysis of protein expression in neuromuscular diseasesMariz 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
- [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. 2006A 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...
- Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic reviewEdith H Cup
Department of Occupational Therapy, Research Centre of Allied Health Care, Nijmegen, The Netherlands
Arch Phys Med Rehabil 88:1452-64. 2007To summarize and critically appraise the available evidence on exercise therapy and other types of physical therapies for patients with neuromuscular diseases (NMD).
- Lung insufflation capacity in neuromuscular diseaseJohn 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....
- Intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: present status and practical therapeutic guidelinesM C Dalakas
Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 4N248, 10 Center Drive MSC 1382, Bethesda, Maryland 20892 1382, USA
Muscle Nerve 22:1479-97. 1999..Finally, safety issues, risk factors, adverse reactions, spurious results or serological tests, and practical guidelines associated with the administration of IVIg in the treatment of neuromuscular disorders are presented...
- A framework for diagnosing and classifying intensive care unit-acquired weaknessRobert 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...
- Classification of EMG signals using neuro-fuzzy system and diagnosis of neuromuscular diseasesSabri 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...
- Speech pathology interventions in patients with neuromuscular diseases: a systematic reviewS Knuijt
Research Centre for Allied Health Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Folia Phoniatr Logop 63:15-20. 2011A systematic review was conducted to summarize and evaluate the literature on the effectiveness of speech pathology interventions in adults with neuromuscular diseases.
- Manual muscle strength testing of critically ill patients: feasibility and interobserver agreementCatherine 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...
- A review: the use of rituximab in neuromuscular diseasesHomam 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.
- Axial myopathies: an elderly disorderG Serratrice
Faculte de Medecine, Méditerranée University of Marseille, France
Acta Myol 26:11-3. 2007
- The role of future longitudinal studies in ICU survivors: understanding determinants and pathophysiology of weakness and neuromuscular dysfunctionCatherine 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...
- Neuromuscular dysfunction acquired in critical illness: a systematic reviewRobert 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)...
- Impact of a home-based activity and dietary intervention in people with slowly progressive neuromuscular diseasesDavid 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...
- Sleep disorders in neuromuscular diseasesUpinder 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.
- Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular diseaseMarcus Deschauer
Department of Neurology, Martin Luther Universitat Halle Wittenberg, Halle Saale, Germany
Arch Neurol 63:902-5. 2006....
- Stem cell-mediated muscle regeneration and repair in aging and neuromuscular diseasesA 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....
- Electron microscopy in neuromuscular disordersCarla 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...
- 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 NetherlandsCarina 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
- Fatigue is part of the burden of neuromuscular diseasesJohn H J Wokke
J Neurol 254:948-9. 2007
- Intravenous immunoglobulin in autoimmune neuromuscular diseasesMarinos C Dalakas
Neuromuscular Diseases Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
JAMA 291:2367-75. 2004..These mechanisms may explain the effectiveness of IVIG in autoimmune neuromuscular disorders...
- Persistent neuromuscular and neurophysiologic abnormalities in long-term survivors of prolonged critical illnessSimon 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...
- Fatigue versus activity-dependent fatigability in patients with central or peripheral motor impairmentsBruce H Dobkin
Department of Neurology, University of California Los Angeles, Los Angeles, CA 90095, USA
Neurorehabil Neural Repair 22:105-10. 2008....
- Diagnostic immunohistochemistry in neuromuscular disordersD 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...
- [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. 2007Much 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 ..
- The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profileMarinos C Dalakas
Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, National Institutes of Health, MSC 1382, Room 4N248, Building 10, 10 Center Drive, Bethesda, MD 20892 1382, USA
Pharmacol Ther 102:177-93. 2004..v.Ig with other immunosuppressive drugs...
- Prevalence of neuromuscular diseases in Chinese children: a study in southern ChinaBrian Chung
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pokfulam, China
J Child Neurol 18:217-9. 2003Our 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...
- Current concepts of respiratory complications of neuromuscular disease in childrenC M Schramm
Department of Pediatrics, University of Connecticut School of Medicine, Hartford 06106, USA
Curr Opin Pediatr 12:203-7. 2000Chronic neuromuscular diseases affect the respiratory muscles in varying patterns and degrees...
- Multilevel nerve compression and muscle imbalance in work-related neuromuscular disordersChristine 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...
- Early signs of critical illness polyneuropathy in ICU patients with systemic inflammatory response syndrome or sepsisA 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...
- Nuclear envelope proteins and neuromuscular diseasesCecilia 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. 2003Several 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)...
- Assessing inspiratory muscle strength in patients with neurologic and neuromuscular diseases : comparative evaluation of two noninvasive techniquesI 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.
- Hereditary neuromuscular diseasesO Ozsarlak
Department of Radiology, University Hospital Antwerp, Wilrijkstraat 10, B 2650 Edegem, Belgium
Eur J Radiol 40:184-97. 2001This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments...
- Critical illness polyneuropathyWalther 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...
- Immunohistological analyses of neutral glycosphingolipids and gangliosides in normal mouse skeletal muscle and in mice with neuromuscular diseasesM 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...
- The neuromuscular basis of hereditary kyphoscoliosis in the mouseL 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...
- The role of neurotrophins in muscle under physiological and pathological conditionsGuillaume 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...
- [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. 2002Predictive 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...
- Role of physical activity and exercise training in neuromuscular diseasesWilliam 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 ..
- Experienced and physiological fatigue in neuromuscular disordersM 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...
- Symptoms, clinical and physiological findings motivating home mechanical ventilation in patients with neuromuscular diseasesMichael Laub
Department of Respiratory Medicine, University Hospital, Lund, Sweden
J Rehabil Med 38:250-4. 2006To 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.
- Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levelsAlessandro Prelle
Istituto di Clinica Neurologica, Ospedale Maggiore IRCCS, Milano, Italy
J Neurol 249:305-11. 2002..4% of patients, and to detect skeletal muscle abnormalities in 38.6% of the subjects. Interestingly, 31.6% of individuals had completely normal muscle findings. These best fit the "diagnosis" of idiopathic hyperCKemia...
- Accuracy of repetitive nerve stimulation for diagnosis of the cramp-fasciculation syndromeTaylor 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...
- Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular diseaseS 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...
- Diagnostic evaluation of clinically normal subjects with chronic hyperCKemiaC 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...
- Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhoodKnut 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...
- The basics of electromyographyK R Mills
Department of Clinical Neurophysiology, King s College Hospital, Denmark Hill, London SE5 9RS, UK
J Neurol Neurosurg Psychiatry 76:ii32-5. 2005
- Correction of neuromuscular scoliosis in patients with preexisting respiratory failureInder 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...
- Quantitative motor unit action potential analysis of skeletal muscles in the Warmblood horseI D Wijnberg
Department of Equine Sciences, Utrecht University, The Netherlands
Equine Vet J 34:556-61. 2002..08 microV) in the subclavian muscle. The number of turns of the lateral vastus (3.0 +/- 1.22) was significantly higher than that of the triceps muscle (2.7 +/- 1.51). No differences were found in MUP duration (5.9-6.4 ms)...
- Skeletal muscle ultrasonography: Visual versus quantitative evaluationSigrid Pillen
Department of Clinical Neurophysiology, Institute of Neurology, Nijmegen, The Netherlands
Ultrasound Med Biol 32:1315-21. 2006..53). We conclude that quantification of echo intensity is a more objective and accurate method. Because it can achieve higher sensitivities, it is better-suited for the screening task in the diagnostic phase of children with a NMD...
- A new motor performance test in a prospective study on children with suspected myopathyWilleke 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...
- Classification of EMG signals using PCA and FFTNihal Fatma Güler
Department of Electronics and Computer Education, Faculty of Technical Education, Gazi University, Teknikokullar, Ankara, Turkey
J Med Syst 29:241-50. 2005..Consequently, 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 MLP...
- Use of support vector machines and neural network in diagnosis of neuromuscular disordersNihal 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...
- The risk of malignant hyperthermia in children undergoing muscle biopsy for suspected neuromuscular disorderRandall P Flick
Department of Anesthesiology, Mayo Clinic, Rochester, MN 55905, USA
Paediatr Anaesth 17:22-7. 2007..Despite the lack of conclusive data, most of these children are managed with a nontriggering anesthetic. This study examined the risk of MH in children exposed to a triggering anesthetic while undergoing muscle biopsy for suspected NMD...
- [Dystrophin detection by immunofluorescent technique for diagnosing muscular dystrophy]Xun Wang
Department of Neurology, First Affiliated Hospital, Sun Yat Sen University, Guangzhou, Guangdong, 510080 P R China
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19:239-42. 2002..To establish a specific technique for diagnosing and classifying Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral muscular dystrophy (FSHD) and neurologic dystrophy...
- [Diagnosis and differential diagnosis of lysosomal glycogen storage disease]D Fischer
Neurologische Klinik und Poliklinik, Rheinische Friedrich Wilhelms Universitat Bonn
Nervenarzt 74:896-9. 2003..We discuss clinical and electrophysiological features of muscular lysosomal glycogenosis, with special emphasis on the histopathological differential diagnosis of the disease...
- Clinical applications of high-density surface EMG: a systematic reviewGea 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...
- Nerve excitability testing and its clinical application to neuromuscular diseasesHiroyuki 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...
- [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...
- Neuromuscular function in survivors of the acute respiratory distress syndromeMichael 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...
- [Recent progress in pediatric neurological rehabilitation]V Leroy-Malherbe
Médecin de rééducation, centre ressources pour l enfant avec lésion cérébrale acquise, Hopital National de Saint Maurice, 14, rue du Val d Osne, 94415 Saint Maurice, France
Arch Pediatr 9:70-7. 2002..Networking with the family and other actors in the environmental field is essential to achieve a better social integration. A true collaboration between physicians and pediatricians is necessary to work toward more progress...
- Advancing the role of electrodiagnostic techniques in equine neuromuscular diseaseSimon R Platt
Equine Vet J 34:538-9. 2002
- Neurological and neuromuscular disease as a risk factor for respiratory failure in children hospitalized with influenza infectionRon Keren
Division of General Pediatrics, Pediatric Generalist Research Group, Department of Medicine, The Children s Hospital of Philadelphia, PA 19104, USA
JAMA 294:2188-94. 2005..Little is known about the relative contribution of each of these chronic medical conditions to the development of serious influenza-associated complications...
- Muscle coenzyme Q: a potential test for mitochondrial activity and redox statusLili Miles
Division of Pathology and Laboratory Medicine, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
Pediatr Neurol 32:318-24. 2005..This study suggests that total CoQ concentration provides a new method for estimating mitochondrial activity in biopsy muscle; and that the muscle CoQ test is feasible and potentially useful for diagnosing CoQ deficiency states...
- [Domiciliary assisted ventilation in children]C Schweitzer
Service d Explorations Fonctionnelles Pédiatriques, Hôpital d Enfants, CHU de Nancy, Allee du Morvan, 54500 Vandoeuvre les Nancy
Rev Pneumol Clin 58:139-44. 2002..Home ventilation, particularly with non-invasive assistance is a reliable method for long-term treatment of chronic alveolar hypoventilation in children. The appropriate time for initiating this therapy should be better defined...
- Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional proteinUte Spiekerkoetter
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
Muscle Nerve 29:66-72. 2004..Therefore, this disorder must be considered in the differential diagnosis of progressive peripheral neuropathy with or without episodic myoglobinuria...
- Critical illness neuromuscular disease: clinical, electrophysiological, and prognostic aspectsB Tabarki
Service de neuropédiatrie et service de neurologie, Cliniques Universitaires Saint Luc, Universite Catholique de Louvain, Avenue Hippocrate 10, 1200 Brussels, Belgium
Arch Dis Child 86:103-7. 2002..Critical illness neuromuscular disease, which has been recognised as a distinct clinical entity in adults, remains poorly described in children...
- NEUROMUSCULAR TARGETS OF BOTULINUM TOXINJULIE COFFIELD; Fiscal Year: 2002..Botulinum toxin is also used clinically to treat neuromuscular diseases characterized by hyperactivity...
- Ca Signaling in Progression of Amyotrophic Lateral Sclerosis in Skeletal MuscleJingsong Zhou; Fiscal Year: 2010..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 ..
- ANESTHETIC REACTIONS IN SURGERYCharles Louis; Fiscal Year: 1999..protein complexes that effect Ca2+ regulation in muscle and neurons; and will be important in the future elucidation of the etiology of other neuromuscular diseases in which excitation-contraction coupling or Ca2+ regulation is abnormal.
- Electrical Impedance Myography In Focal Neurological DiseaseAndrew Tarulli; Fiscal Year: 2007..We are developing electrical impedance myography as a painless, noninvasive, quantifiable technique to assess focal neuropathies of the hand, and neuromuscular diseases in general.
- PHYSIOLOGIC BASIS OF MUSCLE FUNCTIONAL MRIRONALD MEYER; Fiscal Year: 2005..functional magnetic resonance imaging (FMRI) methods for diagnosis and monitoring the progression of neuromuscular diseases and other fatigue syndromes...
- MOLECULAR PHYSIOLOGY OF NEUROMUSCULAR DISEASESStephen Cannon; Fiscal Year: 2002..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...
- Magnetic Resonance Imaging and Biomarkers for Muscular DystrophyKRISTA 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 ..
- Mechanisms underlying myostatin regulation and activitySe Jin Lee; Fiscal Year: 2010..in disease states characterized by debilitating muscle loss, including muscle degenerative diseases, neuromuscular diseases, cachexia, and age-related sarcopenia...
- RNA Binding Proteins & Alternative SplicingPaula Grabowski; Fiscal Year: 2007..Abnormalities in alternative splicing are associated with neurodegenerative, psychiatric and neuromuscular diseases, as well as various cancers...
- Biophysical studies of human choline transporters linked to cholinergic synapsesHideki Iwamoto; Fiscal Year: 2007..contribute to Alzheimer's disease and schizophrenia, and diminished cholinergic signaling correlates with neuromuscular diseases, such as myasthenia and tardive dyskinetics...
- PRESYNAPTIC MECHANISMS IN HAIR CELLSWilliam Roberts; Fiscal Year: 2002..and disorders of specific neurotransmitter systems underlie a number of psychiatric, neurological, and neuromuscular diseases. A better understanding of synaptic transmission will thus advance human health...
- NEUROMUSCULAR TARGETS OF BOTULINUM TOXINJULIE COFFIELD; Fiscal Year: 2006..Ironically, botulinum toxin is also a valued drug used to treat neuromuscular diseases characterized by muscle spasticity...
- A New Family of Voltage-gated Potassium Channel Regulaory SubunitsSteve Goldstein; Fiscal Year: 2007..in accessory subunits and regulatory motifs have been seen to cause life- threatening cardiac arrhythmias, neuromuscular diseases like epilepsy and periodic paralysis...
- Mitochondiral Injury and Anemia in Elderly Patients with Chornic Kidney DiseaseMadhumathi Rao; Fiscal Year: 2007..Mitochondrial DNA mutations have been reported in a variety of inherited neuromuscular diseases, diabetes, atherosclerosis, and age-related neurodegenerative disease...
- Bulbar Motor Deterioration in ALSYana Yunusova; Fiscal Year: 2010..PUBLIC HEALTH RELEVANCE: ALS, or Lou Gehrig's disease, is one of the most common and devastating neuromuscular diseases worldwide, affecting both women and men of all races and ethnic backgrounds...