neuromuscular junction diseases

Summary

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.

Top Publications

  1. ncbi Myasthenia gravis: diagnostic mimics
    John W Engstrom
    Professor of Neurology, Department of Neurology, University of California, San Francisco, California 94143 0114, USA
    Semin Neurol 24:141-7. 2004
  2. pmc The spectrum of intermediate syndrome following acute organophosphate poisoning: a prospective cohort study from Sri Lanka
    Pradeepa Jayawardane
    South Asian Clinical Toxicology Research Collaboration SACTRC, Faculty of Medicine, University of Peradeniya, Peradeniya, Sri Lanka
    PLoS Med 5:e147. 2008
  3. ncbi Electrodiagnostic approach to the patient with suspected neuromuscular junction disorder
    Bashar 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
  4. ncbi Neuromuscular synapse function in typical migraine
    A M J M van den Maagdenberg
    Cephalalgia 23:73-4. 2003
  5. ncbi Ca2+ channels and synaptic transmission at the adult, neonatal, and P/Q-type deficient neuromuscular junction
    Silvana 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
  6. ncbi Atrophy and degeneration in sciatic nerve of presymptomatic mice carrying the Huntington's disease mutation
    Anna Wade
    Department of Pharmacology, University of Cambridge, Cambridge, UK
    Brain Res 1188:61-8. 2008
  7. ncbi Neuromuscular rehabilitation and electrodiagnosis. 3. Diseases of muscles and neuromuscular junction
    Jeffrey 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
  8. ncbi Normal values for single fiber EMG parameters of frontalis muscle in healthy subjects older than 70 years
    Kemal Balci
    School of Medicine, Neurology Department, Trakya University, Edirne 22030, Turkey
    Clin Neurophysiol 116:1555-7. 2005
  9. ncbi Irritable bowel syndrome: update on colonic neuromuscular dysfunction and treatment
    William D Chey
    Division of Gastroenterology, University of Michigan Medical Center, Ann Arbor, MI 48109 0362, USA
    Curr Gastroenterol Rep 8:273-81. 2006
  10. ncbi Evidence of neuroaxonal degeneration in myofascial pain syndrome: a study of neuromuscular jitter by axonal microstimulation
    Chein 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

Research Grants

Detail Information

Publications144 found, 100 shown here

  1. ncbi Myasthenia gravis: diagnostic mimics
    John 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...
  2. pmc The spectrum of intermediate syndrome following acute organophosphate poisoning: a prospective cohort study from Sri Lanka
    Pradeepa 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...
  3. ncbi Electrodiagnostic approach to the patient with suspected neuromuscular junction disorder
    Bashar 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...
  4. ncbi Neuromuscular synapse function in typical migraine
    A M J M van den Maagdenberg
    Cephalalgia 23:73-4. 2003
  5. ncbi Ca2+ channels and synaptic transmission at the adult, neonatal, and P/Q-type deficient neuromuscular junction
    Silvana 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...
  6. ncbi Atrophy and degeneration in sciatic nerve of presymptomatic mice carrying the Huntington's disease mutation
    Anna 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...
  7. ncbi Neuromuscular rehabilitation and electrodiagnosis. 3. Diseases of muscles and neuromuscular junction
    Jeffrey 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...
  8. ncbi Normal values for single fiber EMG parameters of frontalis muscle in healthy subjects older than 70 years
    Kemal 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...
  9. ncbi Irritable bowel syndrome: update on colonic neuromuscular dysfunction and treatment
    William 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...
  10. ncbi Evidence of neuroaxonal degeneration in myofascial pain syndrome: a study of neuromuscular jitter by axonal microstimulation
    Chein 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...
  11. ncbi The control of neuromuscular transmission in health and disease
    Mark 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...
  12. pmc 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
  13. ncbi [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...
  14. ncbi Fatigue and abnormal neuromuscular transmission in Kennedy's disease
    Matthew N Meriggioli
    Dept of Neurological Sciences, Rush University, 1725 W Harrison Street, Suite 1106, Chicago, IL 60612, USA
    Muscle Nerve 27:249-51. 2003
    ....
  15. ncbi Neuromuscular junction autoimmune disease: muscle specific kinase antibodies and treatments for myasthenia gravis
    Angela 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...
  16. ncbi Influence of calcium channel blocker drugs in neuromuscular transmission
    Yasar 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...
  17. ncbi Organ-specific autoantibodies with muscle weakness
    M Al-Lozi
    Washington University in Saint Louis, Department of Neurology, Missouri 63110, USA
    Curr Opin Rheumatol 11:483-8. 1999
    ....
  18. ncbi [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...
  19. ncbi Guidelines for treatment of autoimmune neuromuscular transmission disorders
    G 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)...
  20. pmc 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...
  21. ncbi Interferon alpha and neuromuscular disorders
    Joerg Patrick Stübgen
    Department of Neurology and Neuroscience, Weill Medical College of Cornell University New York Presbyterian Hospital, USA
    J Neuroimmunol 207:3-17. 2009
    ....
  22. ncbi Impaired neuromuscular junction transmission in anti-GQ1b antibody negative Miller Fisher variant
    Yee Cheun Chan
    Clin Neurol Neurosurg 108:717-8. 2006
  23. ncbi Advances in the diagnosis of neuromuscular junction disorders
    Matthew 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...
  24. ncbi [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...
  25. pmc Autoantibodies in neuromuscular transmission disorders
    Angela 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...
  26. ncbi Single fiber electromyography in 78 patients with amyotrophic lateral sclerosis
    Li 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
    ....
  27. ncbi Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy
    Magali 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...
  28. ncbi Isolated dysphagia due to paraneoplastic myasthenic syndrome with anti-P/Q-type voltage-gated calcium-channel and anti-acetylcholine receptor antibodies
    Roberto 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...
  29. ncbi Neuromuscular junction dysfunction in Miller Fisher syndrome
    M 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...
  30. ncbi The changing role of pediatric electrodiagnosis
    Maureen 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...
  31. ncbi Electromyographic approach to neuromuscular junction disorders repetitive nerve stimulation and single-fiber electromyography
    Faye 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...
  32. ncbi 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...
  33. ncbi Concentric needle single fiber electromyography: normative jitter values on voluntary activated Extensor Digitorum Communis
    Joao 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...
  34. ncbi Anesthesia for sickle cell disease and congenital myopathy in combination
    Rebecca 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...
  35. ncbi Gene expression of myogenic regulatory factors, nicotinic acetylcholine receptor subunits, and GAP-43 in skeletal muscle following denervation in a rat model
    Jianjun 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...
  36. ncbi Single-fiber EMG and clinical correlation in Lambert-Eaton myasthenic syndrome
    Shin 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...
  37. ncbi Rab3a deletion reduces vesicle docking and transmitter release at the mouse diaphragm synapse
    W 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...
  38. ncbi Eye movement control and its disorders
    Atchareeya 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)...
  39. pmc The pre-synaptic motor nerve terminal as a site for antibody-mediated neurotoxicity in autoimmune neuropathies and synaptopathies
    Simon 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
    ....
  40. ncbi Patients with neuromuscular disorder
    Palak 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. ..
  41. pmc Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases
    Craig 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...
  42. ncbi Motor endplate disease affects neuromuscular junction maturation
    Ghislaine 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...
  43. ncbi Musculoskeletal complications of neuromuscular disease in children
    Sherilyn 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...
  44. ncbi Defective neuromuscular junction organization and postnatal myogenesis in mice with severe spinal muscular atrophy
    Elisabet 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...
  45. pmc Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis
    Shu 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...
  46. pmc Neuromuscular impairments in adult survivors of childhood acute lymphoblastic leukemia: associations with physical performance and chemotherapy doses
    Kirsten K Ness
    Department of Epidemiology and Cancer Control, St Jude Children s Research Hospital, Memphis, Tennessee 38138, USA
    Cancer 118:828-38. 2012
    ....
  47. ncbi Mice deficient for the vesicular acetylcholine transporter are myasthenic and have deficits in object and social recognition
    Vania 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...
  48. ncbi Electromyography (EMG) accuracy compared to muscle biopsy in childhood
    Malcolm 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...
  49. ncbi Neuromuscular junction disorders mimicking myopathy
    Phillip 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...
  50. ncbi Signaling and aging at the neuromuscular synapse: lessons learnt from neuromuscular diseases
    Anna Rostedt Punga
    Institute of Neuroscience, Department of Clinical Neurophysiology, Uppsala University Hospital, Uppsala, Sweden
    Curr Opin Pharmacol 12:340-6. 2012
    ....
  51. ncbi A diagnostic and management dilemma: combined paraneoplastic myasthenia gravis and Lambert-Eaton myasthenic syndrome presenting as acute respiratory failure
    Fereydoon 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...
  52. ncbi Chronic proximal axonopathy in rats is associated with long-standing neurofilament depletion in neuromuscular junctions and behavioral deficits
    Carla 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. ..
  53. pmc Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction
    Mikako 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...
  54. ncbi Antibodies to neuronal targets in neurological and psychiatric diseases
    Angela 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...
  55. ncbi Current pharmacologic management in selected neuromuscular diseases
    Andrew 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...
  56. ncbi Electrodiagnosis in neuromuscular disease
    Bethany 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
    ....
  57. ncbi [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...
  58. ncbi Neuromuscular junction disorders
    Chiawen Lucy Liang
    CNS Multispecialty Clinic, 65 Walnut Street, Suite 150, Wellesley, MA 02481, USA
    PM R 5:S81-8. 2013
    ....
  59. ncbi Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3
    Renske 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...
  60. pmc Occupational neurotoxic diseases in taiwan
    Chi 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...
  61. doi Paraneoplastic syndromes of the neuromuscular junction: therapeutic options in myasthenia gravis, lambert-eaton myasthenic syndrome, and neuromyotonia
    Agnes 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...
  62. pmc Degeneration and regeneration of murine skeletal neuromuscular junctions after intramuscular injection with a sublethal dose of Clostridium sordellii lethal toxin
    Julien 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...
  63. 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)...
  64. ncbi [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...
  65. ncbi Altered control of the trapezius muscle in subjects with non-traumatic shoulder instability
    C 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)...
  66. pmc The emerging diversity of neuromuscular junction disorders
    J 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...
  67. ncbi [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...
  68. ncbi Aging and sarcopenia
    D D Thompson
    Pfizer Global Research and Development, New London, CT 06320, USA
    J Musculoskelet Neuronal Interact 7:344-5. 2007
  69. ncbi Paraneoplastic muscle disease
    Alan 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...
  70. pmc A modified acetylcholine receptor delta-subunit enables a null mutant to survive beyond sexual maturation
    KIMBERLY 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...
  71. ncbi Physiology and biology of neuromuscular transmission in health and disease
    Torin 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...
  72. ncbi Monozygous twins with neuromuscular transmission defects at opposite sides of the motor endplate
    A 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...
  73. ncbi Mechanisms of exercise limitation and pulmonary rehabilitation for patients with neuromuscular disease
    L 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)...
  74. ncbi A review of autoimmune diseases associated with cancer
    Patricia 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...
  75. ncbi Autoimmune channelopathies: well-established and emerging immunotherapy-responsive diseases of the peripheral and central nervous systems
    Angela 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...
  76. pmc Mutation of Drosophila focal adhesion kinase induces bang-sensitive behavior and disrupts glial function, axonal conduction and synaptic transmission
    Atsushi 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...
  77. ncbi Eliminating false-positive results in serum tests for neuromuscular autoimmunity
    Metha 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...
  78. ncbi Use of intravenous immunoglobulin and plasma exchange in neurological disease
    Ralf A Linker
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
    Curr Opin Neurol 21:358-65. 2008
    ....
  79. ncbi Therapy update in nerve, neuromuscular junction and myopathic disorders
    Hamid 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...
  80. ncbi Paediatric electromyography in the modern world: a personal view
    Matthew 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...
  81. ncbi [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...
  82. ncbi Therapeutic approaches to ion channel diseases
    Diana 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...
  83. ncbi Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome
    Helle 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...
  84. ncbi Evaluation of the diagnostic performance of the expert EMG assistant MUNIN
    S 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...
  85. ncbi Neuropathology considerations: clinical and SEMG/biofeedback applications
    G 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...
  86. ncbi Hypercapnic impairment of neuromuscular function is related to afferent depression
    Matthew D Beekley
    Department of Physical Education, United States Military Academy, West Point, NY 10996, USA
    Eur J Appl Physiol 91:105-10. 2004
    ....
  87. ncbi Alzheimer's amyloid-beta (A beta) is an essential synaptic protein, not neurotoxic junk
    Alexei 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...
  88. ncbi 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-syntrophins
    Terry 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...
  89. ncbi [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...
  90. ncbi [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...
  91. ncbi Effect of exercise on repetitive nerve stimulation studies: new appraisal of an old technique
    Yew 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...
  92. ncbi Congenital diseases of feline muscle and neuromuscular junction
    Frederic 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
    ....
  93. ncbi Clinical classification of patellofemoral pain syndrome: guidelines for non-operative treatment
    Erik 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...
  94. ncbi 103rd ENMC international workshop: designing rational therapy of SMA based on the understanding of its pathophysiology, 18-20 January 2002, Naarden, The Netherlands
    Gerta Vrbova
    Department of Anatomy and Developmental Biology, University College London, Gower Street, London WC1E 6BT, UK
    Neuromuscul Disord 13:173-8. 2003
  95. ncbi Muscle ultrasonography and electromyography correlation for evaluation of floppy infants
    Nur 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...
  96. ncbi Assessment of a simple artificial neural network for predicting residual neuromuscular block
    J 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...
  97. ncbi [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...
  98. ncbi 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...
  99. ncbi CRMP-5 neuronal autoantibody: marker of lung cancer and thymoma-related autoimmunity
    Z 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...
  100. ncbi Motoneuron survival is enhanced in the absence of neuromuscular junction formation in embryos
    J 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...
  101. ncbi Androgen receptor immunoreactivity of male rat cervical motor neurons is increased by chronic pharmacologic testosterone treatment
    C 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...

Research Grants13

  1. NEUROMUSCULAR JUNCTION DEVELOPMENT IN VIVO
    GURKIRPAL 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...
  2. Novel treatment for muscle disease: Fueling the pipeline and finding the product
    ROBERT GRIGGS; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  3. NEUROMUSCULAR TRANSMISSION PROPERTIES OF OCULAR MUSCLE
    HENRY KAMINSKI; Fiscal Year: 2003
    ..Further, the devastating visual consequences of deranged transmission at ocular muscle junctions could be reversed. ..
  4. Genetics of Familial Episodic Ataxia
    Joanna 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. ..
  5. Tolerance versus tumor immunity in PND
    Robert 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. ..
  6. Natural History of Muscular & Reflex Changes in Stroke
    MEHDI 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. ..
  7. MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIA
    Joanna 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. ..
  8. Prostate Cancer Immunotherapy
    Robert 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. ..
  9. Loss of muscle excitability in acute quadriplegic myopathy
    Mark Rich; Fiscal Year: 2009
    ..abstract_text> ..
  10. THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna 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. ..
  11. Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)
    Joanna C Jen; Fiscal Year: 2010
    ..abstract_text> ..
  12. International Conference on Episodic Ataxia Syndromes
    Joanna Jen; Fiscal Year: 2005
    ..abstract_text> ..
  13. Structure/function studies of RBPs in neurologic disease
    Robert Darnell; Fiscal Year: 2005
    ....