Genomes and Genes
neuromuscular junction diseases
Summary: Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
Publications144 found, 100 shown here
- Myasthenia gravis: diagnostic mimicsJohn W Engstrom
Professor of Neurology, Department of Neurology, University of California, San Francisco, California 94143 0114, USA
Semin Neurol 24:141-7. 2004..Although MG is considered often in the differential diagnosis of weakness or fatigue symptoms that lack a correlate on neurological examination (subjective fatigue, breakaway weakness, chronic fatigue syndrome), MG is almost never found...
- The spectrum of intermediate syndrome following acute organophosphate poisoning: a prospective cohort study from Sri LankaPradeepa Jayawardane
South Asian Clinical Toxicology Research Collaboration SACTRC, Faculty of Medicine, University of Peradeniya, Peradeniya, Sri Lanka
PLoS Med 5:e147. 2008..The objective of this study was to determine repetitive nerve stimulation (RNS) predictors of IMS that would assist in patient management and clinical research...
- Electrodiagnostic approach to the patient with suspected neuromuscular junction disorderBashar Katirji
Department of Neurology, Case Western Reserve University, Division of Neuromuscular Diseases, EMG Laboratory, University Hospitals of Cleveland, Cleveland, OH, USA
Neurol Clin 20:557-86, viii. 2002..In addition to routine nerve conduction studies and conventional needle electromyography (EMG), the EDX studies, which are most useful in the diagnosis of NMJ disorders, include repetitive nerve stimulation and single fiber EMG...
- Neuromuscular synapse function in typical migraineA M J M van den Maagdenberg
Cephalalgia 23:73-4. 2003
- Ca2+ channels and synaptic transmission at the adult, neonatal, and P/Q-type deficient neuromuscular junctionSilvana Nudler
Laboratorio de Fisiologia y Biologia Molecular, Departamento de Fisiologia, Biologia Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, IFIBYNE CONICET, Buenos Aires, Argentina
Ann N Y Acad Sci 998:11-7. 2003..Thus, Ca(2+) channels may be recruited to mediate neurotransmitter release where P/Q-type channels seem to be the most suited type of Ca(2+) channel to mediate exocytosis at neuromuscular junctions...
- Atrophy and degeneration in sciatic nerve of presymptomatic mice carrying the Huntington's disease mutationAnna Wade
Department of Pharmacology, University of Cambridge, Cambridge, UK
Brain Res 1188:61-8. 2008..We suggest that degenerative changes in axons are likely to contribute to the early pathological phenotype in HD, even in the absence of frank neuronal cell loss...
- Neuromuscular rehabilitation and electrodiagnosis. 3. Diseases of muscles and neuromuscular junctionJeffrey A Strommen
Department of Physical Medicine and Rehabilitation, Mayo Clinic, 2200 First St SW, Rochester, MN 55905, USA
Arch Phys Med Rehabil 86:S18-27. 2005..This is followed by the diagnostic evaluation, with emphasis on the technical aspects and interpretation of electrodiagnostic studies...
- Normal values for single fiber EMG parameters of frontalis muscle in healthy subjects older than 70 yearsKemal Balci
School of Medicine, Neurology Department, Trakya University, Edirne 22030, Turkey
Clin Neurophysiol 116:1555-7. 2005..In this study, we evaluated the reference values of jitter and fiber density of frontalis muscle in healthy subjects older than 70 years...
- Irritable bowel syndrome: update on colonic neuromuscular dysfunction and treatmentWilliam D Chey
Division of Gastroenterology, University of Michigan Medical Center, Ann Arbor, MI 48109 0362, USA
Curr Gastroenterol Rep 8:273-81. 2006..This article reviews the accumulating body of evidence supporting the importance of neuromuscular dysfunction as a central cause of IBS symptoms and provides a rationale for the discussion of current and future drug development...
- Evidence of neuroaxonal degeneration in myofascial pain syndrome: a study of neuromuscular jitter by axonal microstimulationChein Wei Chang
Department of Physical Medicine and Rehabilitation, National Taiwan University College of Medicine and Hospital, No 1, Chang Te St, Taipei 100, Taiwan
Eur J Pain 12:1026-30. 2008..The mechanism of MPS is possibly implicated with the degeneration of motor neurons...
- The control of neuromuscular transmission in health and diseaseMark M Rich
Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, OH 45435, USA
Neuroscientist 12:134-42. 2006..The review concludes with a discussion of mechanisms that may contribute to failure of neuromuscular transmission during repetitive stimulation...
- Organophosphate poisoning-induced intermediate syndrome: can electrophysiological changes help predict outcome?Cynthia K Aaron
Medical Toxicology, Regional Poison Center, Children s Hospital of Michigan, Detroit, Michigan, United States of America
PLoS Med 5:e154. 2008
- [Current neurophysiological tests and revised JSCN technical standards for clinical EEG]Yoji Ishiyama
Department of Clinical Physiology, School of Health Sciences, Kyorin University, Hachioji 192 8508
Rinsho Byori 51:562-7. 2003..2. The revised JSCN technical standards for clinical EEG. The revised recording conditions of ECI(electro cerebral inactivity: flat EEG) in brain death are the focus of this lecture...
- Fatigue and abnormal neuromuscular transmission in Kennedy's diseaseMatthew N Meriggioli
Dept of Neurological Sciences, Rush University, 1725 W Harrison Street, Suite 1106, Chicago, IL 60612, USA
Muscle Nerve 27:249-51. 2003....
- Neuromuscular junction autoimmune disease: muscle specific kinase antibodies and treatments for myasthenia gravisAngela Vincent
Neurosciences Group, Weatherall Institute of Molecular Medicine and Department of Clinical Neurology, University of Oxford, Oxford, UK
Curr Opin Neurol 18:519-25. 2005..Here we review recent clinical and experimental studies on MuSK antibody associated myasthenia gravis, and summarize the results of newer treatments for myasthenia gravis...
- Influence of calcium channel blocker drugs in neuromuscular transmissionYasar Ozkul
Harran University, Faculty of Medicine, Department of Neurology, Arastirma Hastanesi, Noroloji Klinigi, 63100 Sanliurfa, Turkey
Clin Neurophysiol 118:2005-8. 2007..This study aimed to investigate the influence of calcium channel blockers on neuromuscular transmission, using single fiber electromyography, in subjects who were healthy excepting controlled arterial hypertension condition...
- Organ-specific autoantibodies with muscle weaknessM Al-Lozi
Washington University in Saint Louis, Department of Neurology, Missouri 63110, USA
Curr Opin Rheumatol 11:483-8. 1999....
- [Repetitive stimulation test on the anconeus muscle for the diagnosis of myasthenia gravis: the mapping of its motor end-plate area]Maria das Graças Wanderley S Coriolano
Universidade Federal de Pernambuco, Recife PE, Brasil
Arq Neuropsiquiatr 65:488-91. 2007..To map the motor end-plate area of the anconeus muscle and define the best place for positioning the recording electrodes in repetitive stimulation tests (RST) for the diagnosis of neuromuscular transmission disorders...
- Guidelines for treatment of autoimmune neuromuscular transmission disordersG O Skeie
Department of Neurology, University of Bergen, Norway
Eur J Neurol 17:893-902. 2010..Important progress has been made in our understanding of the autoimmune neuromuscular transmission (NMT) disorders; myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS) and neuromyotonia (Isaacs' syndrome)...
- Extraocular muscle susceptibility to myasthenia gravis: unique immunological environment?Jindrich Soltys
Department of Neurology and Psychiatry, Saint Louis University, 1438 South Grand Avenue, St Louis, MO 63104, USA
Ann N Y Acad Sci 1132:220-4. 2008..These observations suggest that complement inhibitory therapies may prove to be particularly effective in treatment of ocular myasthenia...
- Interferon alpha and neuromuscular disordersJoerg Patrick Stübgen
Department of Neurology and Neuroscience, Weill Medical College of Cornell University New York Presbyterian Hospital, USA
J Neuroimmunol 207:3-17. 2009....
- Impaired neuromuscular junction transmission in anti-GQ1b antibody negative Miller Fisher variantYee Cheun Chan
Clin Neurol Neurosurg 108:717-8. 2006
- Advances in the diagnosis of neuromuscular junction disordersMatthew N Meriggioli
Department of Neurology and Rehabilitation, Section of Neuromuscular Disease, University of Illinois Medical Center, Chicago, Illinois, USA
Am J Phys Med Rehabil 84:627-38. 2005..tests) were reviewed, and the sensitivity and specificity of each test in the diagnosis of specific neuromuscular junction diseases were examined...
- [Reconstruction of defects at the neuromuscular junction]F Lassner
Klinik für Plastische, Hand und Verbrennungschirurgie, Rheinisch Westfälische Technische Hochschule Aachen
Handchir Mikrochir Plast Chir 35:127-31. 2003..The key procedure of this technique is the interfascicular dissection of the nerve grafts, which allows a wide distribution of the grafts into the muscle tissue...
- Autoantibodies in neuromuscular transmission disordersAngela Vincent
Department of Clinical Neurology and Weatherall Institute of Molecular Medicine, University of Oxford, UK
Ann Indian Acad Neurol 11:140-5. 2008..This brief review will not only concentrate on these conditions but also illustrate how their study is helping us to understand the etiology of rare but treatable neurological syndromes of the central nervous system...
- Single fiber electromyography in 78 patients with amyotrophic lateral sclerosisLi ying Cui
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China
Chin Med J (Engl) 117:1830-3. 2004....
- Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophyMagali Michaud
Trophos, Parc Scientifique de Luminy, Luminy Biotech Entreprise, Case 931, 13288 Marseille, France
Neurobiol Dis 38:125-35. 2010..With median survival of 15 days and postnatal onset of neurodegeneration, these mice could be an important tool for evaluating new therapeutics...
- Isolated dysphagia due to paraneoplastic myasthenic syndrome with anti-P/Q-type voltage-gated calcium-channel and anti-acetylcholine receptor antibodiesRoberto Fernandez-Torron
Department of Neurology, Clinica Universidad de Navarra, Avda Pio XII 36, 31008 Pamplona, Spain
Neuromuscul Disord 21:126-8. 2011..To the best of our knowledge, no previous reports of a paraneoplastic myasthenic syndrome related to thymic carcinoma with both anti-P/Q-type VGCC and AChR antibodies have been described...
- Neuromuscular junction dysfunction in Miller Fisher syndromeM P Silverstein
Rush University Medical Center, Chicago, IL 60612, USA
Semin Ophthalmol 23:211-3. 2008..This patient highlights a developing recognition of impaired neuromuscular transmission in MFS. His presentation is discussed in the context of the animal and human literature on neuromuscular junction abnormalities in MFS...
- The changing role of pediatric electrodiagnosisMaureen R Nelson
Physical Medicine and Rehabilitation, Baylor College of Medicine, Houston, TX, USA
Phys Med Rehabil Clin N Am 14:435-43. 2003..Future improvements in motor unit quantitation, which do not require active patient cooperation and require less time than current methodologies, may make EDX more specific and useful for diagnosing neuromuscular disease in children...
- Electromyographic approach to neuromuscular junction disorders repetitive nerve stimulation and single-fiber electromyographyFaye Y Chiou-Tan
Center for Trauma Rehabilitation Research, Harris County Hospital District, Department of Physical Medicine and Rehabilitation, Baylor College of Medicine, 3601 North MacGregor Way, Suite 202, Houston, TX 77004, USA
Phys Med Rehabil Clin N Am 14:387-401. 2003..The practice parameter proposed by the AAEM has established guidelines for testing and for diagnosing NMJ disorders using RNS and single-fiber EMG...
- Calcium channels involved in neurotransmitter release at adult, neonatal and P/Q-type deficient neuromuscular junctions (Review)Francisco J Urbano
Laboratorio de Fisiologia y Biologia Molecular, Departamento de Ciencias Biologicas, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Pabellon II piso 2, Buenos Aires 1428, Argentina
Mol Membr Biol 19:293-300. 2002..Thus, calcium channels may be recruited to mediate neurotransmitter release with a functional hierarchy where the P/Q channel seems to be the channel most suited to mediate exocytosis at NMJs...
- Concentric needle single fiber electromyography: normative jitter values on voluntary activated Extensor Digitorum CommunisJoao Aris Kouyoumdjian
Faculdade de Medicina de São José do Rio Preto SP, Brazil FAMERP
Arq Neuropsiquiatr 65:446-9. 2007..The present study confirms that CNE is suitable for jitter analysis although certain precautions must be mentioned. Our findings of jitter values with CNE were similar to some other few reports in literature...
- Anesthesia for sickle cell disease and congenital myopathy in combinationRebecca Fanning
Children s University Hospital, Temple Street, Dublin, Ireland
Paediatr Anaesth 16:880-3. 2006..The case illustrates two valuable points of interest: the many benefits of regional anesthesia in complex medical cases and the successful use of tourniquets in children with sickle cell disease...
- Gene expression of myogenic regulatory factors, nicotinic acetylcholine receptor subunits, and GAP-43 in skeletal muscle following denervation in a rat modelJianjun Ma
Department of Orthopaedic Surgery, Wake Forest University Health Sciences, Medical Center Boulevard, Winston Salem, North Carolina 27157, USA
J Orthop Res 25:1498-505. 2007..05). Gene expression of nAChR alpha, gamma, delta and epsilon subunits was biphasic in the first month after nerve injury, similar to that of MRF's. nAChR subunits and MRF's may play a critical role in neuromuscular junction stability...
- Single-fiber EMG and clinical correlation in Lambert-Eaton myasthenic syndromeShin J Oh
Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA
Muscle Nerve 47:664-7. 2013..We analyzed 82 single-fiber EMG (SFEMG) tests in the extensor digitorum communis muscle in 30 Lambert-Eaton myasthenic syndrome (LEMS) patients to study the relationship between electrodiagnostic findings and clinical severity...
- Rab3a deletion reduces vesicle docking and transmitter release at the mouse diaphragm synapseW L Coleman
Department of Biological Sciences, Lehigh University, 111 Research Drive, Bethlehem, PA 18015, USA
Neuroscience 148:1-6. 2007..This result is consistent with the proposed role of rab3a in trafficking and targeting vesicles to the active zones...
- Eye movement control and its disordersAtchareeya Wiwatwongwana
Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, Canada Division of Pediatric Ophthalmology and Strabismus, Department of Ophthalmology, Chiang Mai University, Chiang Mai, Thailand
Handb Clin Neurol 113:1505-13. 2013..Lastly, we discuss the nature of childhood neuromuscular junction disorders such as myasthenia gravis, as well as disorders of the muscle itself (chronic progressive external ophthalmoplegia (CPEO), thyroid orbitopathy)...
- The pre-synaptic motor nerve terminal as a site for antibody-mediated neurotoxicity in autoimmune neuropathies and synaptopathiesSimon N Fewou
Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK
J Anat 224:36-44. 2014....
- Patients with neuromuscular disorderPalak Turakhia
Anesthesiology, UNC Hospitals, University of North Carolina, N2198, CB 7010, Chapel Hill, NC 27599 7010, USA Electronic address
Med Clin North Am 97:1015-32. 2013..The anesthetic implications for the various comorbidities are varied and can be profound. These patients should be optimized before surgery, with the involvement of a multidisciplinary team of specialists. ..
- Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseasesCraig M McDonald
Department of Physical Medicine and Rehabilitation, University of California Davis Medical Center, 4860 Y Street, Suite 3850, Sacramento, CA 95817, USA
Phys Med Rehabil Clin N Am 23:495-563. 2012..All diagnostic information needs are to be interpreted within the context of relevant historical information, family history, physical examination, laboratory data, electrophysiology, pathology, and molecular genetics...
- Motor endplate disease affects neuromuscular junction maturationGhislaine Caillol
Institut National de la Sante et de la Recherche Medicale, Unité Mixte de Recherche 641, Marseille 13916, France
Eur J Neurosci 36:2400-8. 2012..All together, our findings suggested that the clinical weakness in these mutant mice was likely to be related to postnatal structural abnormalities of the neuromuscular junction maturation...
- Musculoskeletal complications of neuromuscular disease in childrenSherilyn W Driscoll
Pediatric Physical Medicine and Rehabilitation, Mayo Clinic, 200 First Street SW, Rochester, MN 55901, USA
Phys Med Rehabil Clin N Am 19:163-94, viii. 2008..Management is often challenging to those who work with children who have neuromuscular disorders...
- Defective neuromuscular junction organization and postnatal myogenesis in mice with severe spinal muscular atrophyElisabet Dachs
Unitat de Neurobiologia Cellular, Departament de Medicina Experimental, Universitat de Lleida and Institut de Recerca Biomèdica de Lleida, Catalonia, Spain
J Neuropathol Exp Neurol 70:444-61. 2011..These findings raise questions regarding the primary contribution of a muscle cell defect to the SMA phenotype...
- Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosisShu Fang Chen
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan
BMC Neurol 11:63. 2011..We studied the peripheral nervous system, myopathology, and autonomic system of four CTX patients and performed a literature review of the reported CTX patients with peripheral neuropathy...
- Neuromuscular impairments in adult survivors of childhood acute lymphoblastic leukemia: associations with physical performance and chemotherapy dosesKirsten K Ness
Department of Epidemiology and Cancer Control, St Jude Children s Research Hospital, Memphis, Tennessee 38138, USA
Cancer 118:828-38. 2012....
- Mice deficient for the vesicular acetylcholine transporter are myasthenic and have deficits in object and social recognitionVania F Prado
Departamento de Bioquímica Imunologia, Instituto de Ciencias Biologicas, Universidade Federal de Minas Gerais, Avenida Antonio Carlos 6627, Belo Horizonte, MG 31270 901, Brazil
Neuron 51:601-12. 2006..These observations suggest a critical role of VAChT in the regulation of ACh release and physiological functions in the peripheral and central nervous system...
- Electromyography (EMG) accuracy compared to muscle biopsy in childhoodMalcolm Rabie
Neuropediatric Unit, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem 91240, Israel
J Child Neurol 22:803-8. 2007..In neurogenic and neuromuscular junction disorders, the EMG has a very high detection rate. In children with mild to moderate neurogenic EMG findings and normal nerve conduction, a myopathy should always be considered...
- Neuromuscular junction disorders mimicking myopathyPhillip C Mongiovi
The Ohio State University College of Medicine, Columbus, Ohio, USA
Muscle Nerve 50:854-6. 2014..NMJ studies (repetitive nerve stimulation and single-fiber electromyography) can determine if such findings are related to NMJ abnormalities but are not considered routinely in atypical cases...
- Signaling and aging at the neuromuscular synapse: lessons learnt from neuromuscular diseasesAnna Rostedt Punga
Institute of Neuroscience, Department of Clinical Neurophysiology, Uppsala University Hospital, Uppsala, Sweden
Curr Opin Pharmacol 12:340-6. 2012....
- A diagnostic and management dilemma: combined paraneoplastic myasthenia gravis and Lambert-Eaton myasthenic syndrome presenting as acute respiratory failureFereydoon Roohi
Department of Neurology and the Division of Pulmonary Medicine, Long Island College Hospital, Brooklyn, New York 11201, USA
Neurologist 12:322-6. 2006..These major disorders of neuromuscular transmission are relatively common and distinctly recognized, but co-occurrence of these disorders (overlap myasthenic syndrome) is rare and has so far attracted little attention...
- Chronic proximal axonopathy in rats is associated with long-standing neurofilament depletion in neuromuscular junctions and behavioral deficitsCarla Soler-Martín
From the Departament de Ciències Fisiològiques II, Universitat de Barcelona, and Institut d Investigació Biomèdica de Bellvitge, Hospitalet de Llobregat, Barcelona CS M, JL NEOMA Research Group, Departament de Ciències Mèdiques, Facultat de Medicina, Universitat de Girona, Girona PB V, EV and Unitat d Histologia i Neurobiologia, Facultat de Medicina i Ciencies de la Salut, Universitat Rovira i Virgili, Reus NG, Spain
J Neuropathol Exp Neurol 73:568-79. 2014..Thus, IDPN proximal neurofilamentous axonopathy is associated with NF depletion in motor terminals; motor weakness and structural changes in the NMJs suggest impaired synaptic function despite long-term preservation of the NMJs. ..
- Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junctionMikako Ito
Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan
Mol Ther 20:1384-92. 2012..We propose that the protein-anchoring strategy is potentially applicable to a broad spectrum of diseases affecting extracellular matrix molecules...
- Antibodies to neuronal targets in neurological and psychiatric diseasesAngela Vincent
Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
Ann N Y Acad Sci 992:48-55. 2003..This review highlights features of these conditions, preliminary investigations into neurodevelopmental disorders, and areas for further study...
- Current pharmacologic management in selected neuromuscular diseasesAndrew J Skalsky
Department of Pediatrics, Rady Children s Hospital San Diego, University of California San Diego, San Diego, CA 92123, USA
Phys Med Rehabil Clin N Am 23:801-20. 2012..Additionally, investigational treatments for ALS, Duchenne muscular dystrophy, and spinal muscular atrophy are discussed...
- Electrodiagnosis in neuromuscular diseaseBethany M Lipa
Department of Physical Medicine and Rehabilitation, University of California Davis School of Medicine, 4860 Y Street, Suite 1700, Sacramento, CA 95817, USA
Phys Med Rehabil Clin N Am 23:565-87. 2012....
- [The pathophysiology and treatment of autoimmune neuromuscular junction diseases]Masakatsu Motomura
Department of Clinical Neuroscience and Neurology, Graduate School of Biomedical Sciences, Nagasaki University
Rinsho Shinkeigaku 51:872-6. 2011..In both MG and LEMS, where weakness is severe, plasma exchange or intravenous immunoglobulin treatment may provide short-term benefit...
- Neuromuscular junction disordersChiawen Lucy Liang
CNS Multispecialty Clinic, 65 Walnut Street, Suite 150, Wellesley, MA 02481, USA
PM R 5:S81-8. 2013....
- Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3Renske I Wadman
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
Neurology 79:2050-5. 2012..We therefore evaluated neuromuscular junction function in SMA with repetitive nerve stimulation...
- Occupational neurotoxic diseases in taiwanChi Hung Liu
Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan
Saf Health Work 3:257-67. 2012..By researching this topic, the hope is that it may help other developing countries to improve industrial hygiene and promote occupational safety and health care during the process of industrialization...
- Paraneoplastic syndromes of the neuromuscular junction: therapeutic options in myasthenia gravis, lambert-eaton myasthenic syndrome, and neuromyotoniaAgnes van Sonderen
Department of Neurology, Haga Hospital, The Hague, The Netherlands
Curr Treat Options Neurol 15:224-39. 2013..Plasma exchange or intravenous immunoglobulin is indicated in severe neuromyotonia and in patients with neuromyotonia combined with central nervous system symptoms, a clinical picture known as Morvan's syndrome...
- Degeneration and regeneration of murine skeletal neuromuscular junctions after intramuscular injection with a sublethal dose of Clostridium sordellii lethal toxinJulien Barbier
Laboratoire de Neurobiologie Cellulaire et Moleculaire, U P R 9040, Centre National de la Recherche Scientifique, Gif sur Yvette, France
Infect Immun 72:3120-8. 2004..In addition, our data may provide an explanation for the severe neuromuscular alterations accompanying wound infections caused by C. sordellii...
- 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. 2007..To summarize and critically appraise the available evidence on exercise therapy and other types of physical therapies for patients with neuromuscular diseases (NMD)...
- [Specific aspects of child's electroneurography and electromyography: literature and own experience]Sławomir Kroczka
Pracownia Neurofizjologii Kliniki Neurologii Dzieciecej
Przegl Lek 67:750-6. 2010..EMG examination is also helpful in detection of subclinical pathology. In neurogenic processes it enables differentiation of spinal and peripheral nerve trunks impairment...
- Altered control of the trapezius muscle in subjects with non-traumatic shoulder instabilityC M Alexander
Department of Physiotherapy, Hammersmith Hospitals NHS Trust, London, UK
Clin Neurophysiol 118:2664-71. 2007..Exp Brain Res 2003;148: 277-282.]. With this in mind, the objective of this investigation was to examine this trapezius reflex in subjects with non-traumatic shoulder instability (NTSI)...
- The emerging diversity of neuromuscular junction disordersJ Newsom-Davis
Department of Clinical Neurology, University of Oxford, UK
Acta Myol 26:5-10. 2007..These discoveries have had a major impact on diagnosis and management...
- [Neurophysiologic assessment of disorders affecting the neuromuscular junction]Satoshi Kuwabara
Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan
Brain Nerve 63:713-7. 2011..In addition to confirming or excluding the diagnosis, these techniques can provide new insights into the pathophysiology of a variety of neuromuscular disorders...
- Aging and sarcopeniaD D Thompson
Pfizer Global Research and Development, New London, CT 06320, USA
J Musculoskelet Neuronal Interact 7:344-5. 2007
- Paraneoplastic muscle diseaseAlan N Baer
Division of Rheumatology, Johns Hopkins University School of Medicine, Good Samaritan Hospital, 5200 Eastern Avenue, Mason F Lord Building Center Tower, Suite 4100, Room 413, Baltimore MD 21224, USA
Rheum Dis Clin North Am 37:185-200, v-vi. 2011..This article is focused on inflammatory and necrotizing myopathies and disorders of neuromuscular transmission that may arise in the setting of malignancy and are considered paraneoplastic phenomena...
- A modified acetylcholine receptor delta-subunit enables a null mutant to survive beyond sexual maturationKIMBERLY E EPLEY
The Whitney Laboratory for Marine Bioscience, University of Florida, St Augustine, Florida 32080, USA
J Neurosci 28:13223-31. 2008..In the rescued fish, a foreign promoter drove the transgene expression and the NMJ had altered synaptic strength. The survival of the transgenic animal delineates requirements for gene therapies of NMJ...
- Physiology and biology of neuromuscular transmission in health and diseaseTorin D Shear
Department of Anesthesia and Critical Care, Harvard Medical School, Massachusetts General Hospital, Boston, MA 02114, USA
J Crit Care 24:5-10. 2009..Recent elucidations of the pathophysiologic responses to neuromuscular injury and its clinical implications are also detailed...
- Monozygous twins with neuromuscular transmission defects at opposite sides of the motor endplateA R Punga
Department of Clinical Neurophysiology, Uppsala University Hospital, Uppsala, Sweden
Acta Neurol Scand 119:207-11. 2009..To our knowledge this is the first case report of its kind and adds an intriguing contrast to the more common diagnosis of CMS in monozygous twins...
- Mechanisms of exercise limitation and pulmonary rehabilitation for patients with neuromuscular diseaseL S Aboussouan
Cleveland Clinic Foundation, Respiratory Institute, Cleveland, OH 44195, USA
Chron Respir Dis 6:231-49. 2009..g., extremity training for task-specific performance, exercise training to enhance exercise performance, respiratory muscle training where respiratory muscle involvement contributes to the impairment)...
- A review of autoimmune diseases associated with cancerPatricia Tai
Faculty of Oncology, University of Saskatchewan, Saskatchewan, Canada
Front Biosci (Elite Ed) 2:122-6. 2010..2.Those prevalent cancers which may increase the risks of developing autoimmune disorders. The review concludes with a brief discussion of some selected innovative approaches to cancer immunotherapy...
- Autoimmune channelopathies: well-established and emerging immunotherapy-responsive diseases of the peripheral and central nervous systemsAngela Vincent
Department of Clinical Neurology, Level 6 West Wing, John Radcliffe Hospital, University of Oxford, Oxford, UK
J Clin Immunol 30:S97-102. 2010..Over the last decade, antibodies to CNS membrane receptors or ion channels have begun to be identified and these antibodies define antibody-mediated CNS diseases that also respond to immunotherapies...
- Mutation of Drosophila focal adhesion kinase induces bang-sensitive behavior and disrupts glial function, axonal conduction and synaptic transmissionAtsushi Ueda
Department of Biological Sciences, University of Iowa, Iowa City, IA 52242, USA
Eur J Neurosci 27:2860-70. 2008..Together these findings suggest that modulation of Fak56 function is important for action potential propagation and Ca2+-regulated neuromuscular transmission in vivo...
- Eliminating false-positive results in serum tests for neuromuscular autoimmunityMetha Apiwattanakul
Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
Muscle Nerve 41:702-4. 2010..05% and 1.7% for AchR and VGKC autoantibodies, respectively. Specificity assurance in radioimmunoprecipitation assays requires subtraction of values for 125I-ligand binding...
- Use of intravenous immunoglobulin and plasma exchange in neurological diseaseRalf A Linker
Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
Curr Opin Neurol 21:358-65. 2008....
- Therapy update in nerve, neuromuscular junction and myopathic disordersHamid Sadeghian
Department of Neurology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 8897, USA
Curr Opin Neurol 23:496-501. 2010..The objective of this review is to summarize recent advances in the treatment of various neuromuscular disorders including neuropathies, neuromuscular junction disorders, and myopathies...
- Paediatric electromyography in the modern world: a personal viewMatthew Pitt
Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Trust, London, UK
Dev Med Child Neurol 53:120-4. 2011..It is a valuable diagnostic tool in developed countries and those with limited resources...
- [Human calcium channelopathies. Voltage-gated Ca(2+) channels in etiology, pathogenesis, and pharmacotherapy of neurologic disorders]M Weiergräber
Institut fur Neurophysiologie, Medizinische Einrichtungen, Universitat zu Koln, Robert Koch Strasse 39, 50931, Koln, Deutschland
Nervenarzt 79:426-36. 2008..In this review we characterise the different human Ca(2+) channelopathies known so far, further illuminating basic pathophysiologic mechanisms and clinical aspects...
- Therapeutic approaches to ion channel diseasesDiana Conte Camerino
Division of Pharmacology, Department of Pharmacobiology, Faculty of Pharmacy, University of Bari, Bari, Italy
Adv Genet 64:81-145. 2008..Among the newest aspect of ion channel pharmacology, we draw attention to how polymorphisms or mutations in ion channel genes may modify sensitivity to drugs, opening the way toward the development of pharmacogenetics...
- Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndromeHelle Friis Proschowsky
Department of Animal and Veterinary Basic Sciences, Groennegaardsvej 3, The Royal Veterinary and Agricultural University, 1870 Frederiksberg C, Denmark
J Hered 98:539-43. 2007..The mutation was not detected in 50 dogs representing 25 other dog breeds. A DNA test has been developed and is now available to the breeders of Old Danish Pointing Dogs...
- Evaluation of the diagnostic performance of the expert EMG assistant MUNINS Andreassen
Department of Medical Informatics and Image Analysis, Aalborg University, Denmark
Electroencephalogr Clin Neurophysiol 101:129-44. 1996..In particular, it was noted that MUNIN handled cases with conflicting findings well, and that it was able to diagnose patients with multiple diseases...
- Neuropathology considerations: clinical and SEMG/biofeedback applicationsG E Sella
Faculty of Medicine, West Virginia University, Morgantown, West Virginia, USA
Appl Psychophysiol Biofeedback 28:93-105. 2003..SEMG findings within the clinical presentation of those pathologies are aimed at improving the diagnostic process and serve to focus the SEMG neuromuscular reeducation (biofeedback) component of the overall treatment plan...
- Hypercapnic impairment of neuromuscular function is related to afferent depressionMatthew D Beekley
Department of Physical Education, United States Military Academy, West Point, NY 10996, USA
Eur J Appl Physiol 91:105-10. 2004....
- Alzheimer's amyloid-beta (A beta) is an essential synaptic protein, not neurotoxic junkAlexei R Koudinov
Russian Academy of Medical Sciences, Moscow, Russia P O Box 1665, Rehovot 76100, Israel
Acta Neurobiol Exp (Wars) 64:71-9. 2004..The article also calls for a need to critically re-evaluate a universal belief that transgenic mice with a transgene for amyloid-beta protein precursor (A beta PP) are a true model for Alzheimer's type neurodegeneration...
- Defects in neuromuscular junction structure in dystrophic muscle are corrected by expression of a NOS transgene in dystrophin-deficient muscles, but not in muscles lacking alpha- and beta1-syntrophinsTerry Shiao
Department of Physiological Science, University of California, Los Angeles 90095, USA
Hum Mol Genet 13:1873-84. 2004..The results suggest that defects in NMJ structure that occur in some DGC mutants can result from the secondary loss of NOS from muscle...
- [Single-fibre electromyography]A Lagueny
Service de Neurologie, Hôpital Haut l Evêque, F 33604 PESSAC
Rev Med Liege 59:141-9. 2004..Moreover, jitter measurements coupled with fiber density estimates provide valuable information on the pathophysiology of the motor units in various neuromuscular disorders...
- [Electrodiagnostic assessment of neuromuscular junction disorders]G Chauplannaz
Clinique Charcot, 69110 Sainte Foy Les Lyon
Rev Med Liege 59:184-9. 2004..If negative, median and radial nerves should be studied. Additionally electrodiagnosis features of congenital myasthenic syndromes and botulism are reviewed...
- Effect of exercise on repetitive nerve stimulation studies: new appraisal of an old techniqueYew Long Lo
Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore
J Clin Neurophysiol 21:110-3. 2004..4% compared with conventional 3-Hz RNS at rest. The standardized use of exercise with RNS is advocated for increasing its diagnostic yield in the neurophysiologic laboratory...
- Congenital diseases of feline muscle and neuromuscular junctionFrederic Gaschen
Division of Small Animal Internal Medicine, Department of Clinical Veterinary Medicine, Faculty of Veterinary Medicine, University of Bern, Laenggass str 128, 3001 Bern, Switzerland
J Feline Med Surg 6:355-66. 2004....
- Clinical classification of patellofemoral pain syndrome: guidelines for non-operative treatmentErik Witvrouw
Department of Rehabilitation Sciences and Physical Therapy, Faculty of Medicine, Ghent University Hospital 6K3 REVAKI, De Pintelaan 185, 9000 Gent, Belgium
Knee Surg Sports Traumatol Arthrosc 13:122-30. 2005..Therefore, the aim of this study with a classification system was to guide the clinician through clinical examination in order to develop a non-operative treatment protocol, specific for each individual with PFPS...
- 103rd ENMC international workshop: designing rational therapy of SMA based on the understanding of its pathophysiology, 18-20 January 2002, Naarden, The NetherlandsGerta Vrbova
Department of Anatomy and Developmental Biology, University College London, Gower Street, London WC1E 6BT, UK
Neuromuscul Disord 13:173-8. 2003
- Muscle ultrasonography and electromyography correlation for evaluation of floppy infantsNur Aydinli
Division of Paediatric Neurology, Department of Paediatrics, Istanbul University Istanbul Medical Faculty, Capa 34390, Istanbul, Turkey
Brain Dev 25:22-4. 2003..They were considered in the group of central hypotonia. Our results suggest a high concordance of US and EMG findings in the diagnostic work-up of neurogenic and myopathic disorders...
- Assessment of a simple artificial neural network for predicting residual neuromuscular blockJ G Laffey
Department of Anaesthesia, Intensive Care and Pain Medicine, St Vincent s University Hospital, Dublin, Ireland
Br J Anaesth 90:48-52. 2003..Artificial neural networks are being used increasingly to examine complex data. We hypothesized that a neural network would enhance prediction of PORC...
- [Electrodiagnosis in disorders of neuromuscular transmission]M J Chumillas
, Hospital Universitario La Fe, Valencia,
Rev Neurol 30:65-70. 2000..Their application and findings in the commonest syndromes are discussed. Finally, their sensitivity, specificity and difficulties are considered...
- What does beta-bungarotoxin do at the neuromuscular junction?E G Rowan
Department of Physiology and Pharmacology, University of Strathclyde, Strathclyde Institute for Biomedical Sciences, 27 Taylor Street, Glasgow G4 ONR, UK
Toxicon 39:107-18. 2001..The last phase (phase 3) is phospholipase dependent and is probably due to phospholipase A(2)-mediated destruction of membrane phospholipids in motor nerve terminals...
- CRMP-5 neuronal autoantibody: marker of lung cancer and thymoma-related autoimmunityZ Yu
Department of Immunology, Mayo Clinic, Rochester, MN 55905, USA
Ann Neurol 49:146-54. 2001..Half of those remaining had miscellaneous neoplasms; all but two were smokers. Serum IgG in all cases bound to recombinant CRMP-5 (predominantly N-terminal epitopes), but not to human CRMP-2 or CRMP-3...
- Motoneuron survival is enhanced in the absence of neuromuscular junction formation in embryosJ Terrado
Division of Clinical Neuromuscular Research and Department of Anesthesiology, Pharmacology and Surgical Intensive Care, Faculty of Medicine, Centre Medical Universitaire, 1211 Geneva 4, Switzerland
J Neurosci 21:3144-50. 2001..The motoneuron numbers in the double mutants parallel those of the single MuSK-deficient mice, indicating that synapse disruption can even overcome the deleterious effect of CNTFRalpha ablation...
- Androgen receptor immunoreactivity of male rat cervical motor neurons is increased by chronic pharmacologic testosterone treatmentC E Blanco
Department of Biokinesiology and Physical Therapy, University of Southern California, Los Angeles 90089, USA
Acta Physiol Pharmacol Bulg 26:7-10. 2001..7 +/- 12.6% in the TP-treated animals (p<0.05). These results imply that anabolic-androgenic steroid effects on neuromuscular function may be mediated through AR dependent regulation of gene expression in motor neurons...
- NEUROMUSCULAR JUNCTION DEVELOPMENT IN VIVOGURKIRPAL SOHAL; Fiscal Year: 1992..Results of the proposed study should indicate whether or not the development of neuromuscular junction depends on interactions with connective tissue components...
- Novel treatment for muscle disease: Fueling the pipeline and finding the productROBERT GRIGGS; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- NEUROMUSCULAR TRANSMISSION PROPERTIES OF OCULAR MUSCLEHENRY KAMINSKI; Fiscal Year: 2003..Further, the devastating visual consequences of deranged transmission at ocular muscle junctions could be reversed. ..
- Genetics of Familial Episodic AtaxiaJoanna C Jen; Fiscal Year: 2010..Insights gained from the study will lead to improved diagnosis and treatment of familial episodic ataxia and the more common episodic vertigo syndromes. ..
- Tolerance versus tumor immunity in PNDRobert Darnell; Fiscal Year: 2005..These experiments offer the possibility of developing new cancer treatments and advancing the understanding of autoimmune disease of the nervous system. ..
- Natural History of Muscular & Reflex Changes in StrokeMEHDI MIRBAGHERI; Fiscal Year: 2004..The changes in passive and intrinsic stiffness are likely to be highly correlated with severity of spasticity and inversely correlated with recovery of function. ..
- MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIAJoanna Jen; Fiscal Year: 2002..The further relevance of this work to the more common basilar migraine and Meniere's syndrome is emphasized by the overlapping symptoms of vertigo and ataxia in the group of patients that we propose to study. ..
- Prostate Cancer ImmunotherapyRobert Darnell; Fiscal Year: 2007..Our results should indicate whether this new approach to DC based, immunotherapy has a potential role in the treatment of prostatic cancer as well as other malignancies. ..
- Loss of muscle excitability in acute quadriplegic myopathyMark Rich; Fiscal Year: 2009..abstract_text> ..
- THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPSJoanna Jen; Fiscal Year: 2009..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
- Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)Joanna C Jen; Fiscal Year: 2010..abstract_text> ..
- International Conference on Episodic Ataxia SyndromesJoanna Jen; Fiscal Year: 2005..abstract_text> ..
- Structure/function studies of RBPs in neurologic diseaseRobert Darnell; Fiscal Year: 2005....