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.

Top Publications

  1. Pandit L, Agrawal A. Neuromuscular disorders in critical illness. Clin Neurol Neurosurg. 2006;108:621-7 pubmed
    ..This update focuses on neuromuscular disorders occurring in the critical care set up associated with diffuse and severe weakness...
  2. Jayawardane P, Dawson A, Weerasinghe V, Karalliedde L, Buckley N, Senanayake N. The spectrum of intermediate syndrome following acute organophosphate poisoning: a prospective cohort study from Sri Lanka. PLoS Med. 2008;5:e147 pubmed publisher
    ..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. Jacob S, Viegas S, Lashley D, Hilton Jones D. Myasthenia gravis and other neuromuscular junction disorders. Pract Neurol. 2009;9:364-71 pubmed publisher
  4. Zhu X, Zhai H, Tang S, Cheng Y. Intrathyroidal parathyroid adenoma presenting with neuromuscular manifestation. Neurol India. 2009;57:340-3 pubmed publisher
    ..The tumor presented as a 'cold nodule' in the dual-phase single-agent Tc-99m MIBI scan. The right lobectomy examination confirmed the diagnosis of an intrathyroidal parathyroid adenoma of the right gland. ..
  5. Beekley M, Cullom D, Brechue W. Hypercapnic impairment of neuromuscular function is related to afferent depression. Eur J Appl Physiol. 2004;91:105-10 pubmed
  6. Blanco C, Davenport T, Wachi S, Goedken T. Androgen receptor immunoreactivity of male rat cervical motor neurons is increased by chronic pharmacologic testosterone treatment. Acta Physiol Pharmacol Bulg. 2001;26:7-10 pubmed
    ..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. ..
  7. Chang C, Chen Y, Chang K. Evidence of neuroaxonal degeneration in myofascial pain syndrome: a study of neuromuscular jitter by axonal microstimulation. Eur J Pain. 2008;12:1026-30 pubmed publisher
    ..The mechanism of MPS is possibly implicated with the degeneration of motor neurons...
  8. Silvestri N, Wolfe G, Lacomis D. What's in the Literature?. J Clin Neuromuscul Dis. 2016;18:108-117 pubmed
    ..The clinical features and treatment of late-onset Pompe disease are reviewed, as are studies in facioscapulohumeral dystrophy, idiopathic inflammatory myopathies, and calpainopathy. ..
  9. Alexander C. Altered control of the trapezius muscle in subjects with non-traumatic shoulder instability. Clin Neurophysiol. 2007;118:2664-71 pubmed
    ..The control of lower trapezius should be considered when treating people with NTSI. ..

More Information


  1. Santos E, Moreira I, Coutinho E, Gonçalves G, Lopes C, Lopes Lima J, et al. Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis. Neuromuscul Disord. 2015;25:928-31 pubmed publisher
    ..The inexistence of other conditions that could potentially associate with thymic hyperplasia also supports the diagnosis of MG. ..
  2. Linker R, Gold R. Use of intravenous immunoglobulin and plasma exchange in neurological disease. Curr Opin Neurol. 2008;21:358-65 pubmed publisher
    ..Controlled trials have led to a refinement of the application of both treatment modalities, whose targets can be sometimes congruent, but in other cases also very distinct. ..
  3. Weiergräber M, Hescheler J, Schneider T. [Human calcium channelopathies. Voltage-gated Ca(2+) channels in etiology, pathogenesis, and pharmacotherapy of neurologic disorders]. Nervenarzt. 2008;79:426-36 pubmed publisher
    ..In this review we characterise the different human Ca(2+) channelopathies known so far, further illuminating basic pathophysiologic mechanisms and clinical aspects. ..
  4. Pitt M. Neurophysiological Assessment of Abnormalities of the Neuromuscular Junction in Children. Int J Mol Sci. 2018;19: pubmed publisher
  5. Verschuuren J, Strijbos E, Vincent A. Neuromuscular junction disorders. Handb Clin Neurol. 2016;133:447-66 pubmed publisher
    ..Future research is directed to understanding the pathogenesis, discovering new antigens, and trying to develop disease-specific treatments. ..
  6. Roppolo L, Walters K. Airway management in neurological emergencies. Neurocrit Care. 2004;1:405-14 pubmed
    ..This article reviews airway management, with a particular emphasis on the use of RSI for common neurological problems presenting to the ED. ..
  7. Meriggioli M, Sanders D. Advances in the diagnosis of neuromuscular junction disorders. Am J Phys Med Rehabil. 2005;84:627-38 pubmed
    ..tests) were reviewed, and the sensitivity and specificity of each test in the diagnosis of specific neuromuscular junction diseases were examined...
  8. Bouche P. [Neurological electrophysiology]. Rev Prat. 2008;58:1882-6 pubmed
    ..Within the peripheral nervous system disorders, it allows to separate the axonal from the demyelinating lesions. The ENMG allows also to evaluate the severity of the affection and to predict the possibilities of reinnervation. ..
  9. Herbst R, Iskratsch T, Unger E, Bittner R. Aberrant development of neuromuscular junctions in glycosylation-defective Large(myd) mice. Neuromuscul Disord. 2009;19:366-78 pubmed publisher
    ..These results together with the finding that O-linked glycosylation at neuromuscular junctions of Large(myd) mice is compromised indicate that the action of Large is necessary for proper neuromuscular junction development. ..
  10. Pascuzzi R. Pearls and pitfalls in the diagnosis and management of neuromuscular junction disorders. Semin Neurol. 2001;21:425-40 pubmed
    ..Clinical features and treatment issues of these and other disorders of neuromuscular transmission are reviewed. ..
  11. Sadeghian H, Wolfe G. Therapy update in nerve, neuromuscular junction and myopathic disorders. Curr Opin Neurol. 2010;23:496-501 pubmed publisher
  12. Ambrosini A, Pierelli F, Schoenen J. Acetazolamide acts on neuromuscular transmission abnormalities found in some migraineurs. Cephalalgia. 2003;23:75-8 pubmed
    ..These results support the assumption that the subclinical impairment of neuromuscular transmission found in certain migraineurs might be due to dysfunctioning Ca2+-channels. ..
  13. Lo Y, Dan Y, Leoh T, Tan Y, Ratnagopal P. Decrement in area of muscle responses to repetitive nerve stimulation. Muscle Nerve. 2003;27:494-6 pubmed
    ..Decrement of response area provided additional diagnostic yields of 5.3% to 30% depending on the muscle examined and disease severity, and is recommended as a diagnostic adjunct to measurement of amplitude decrement during RNS. ..
  14. Sella G. Neuropathology considerations: clinical and SEMG/biofeedback applications. Appl Psychophysiol Biofeedback. 2003;28:93-105 pubmed
    ..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. ..
  15. Azzolin V, Barbisan F, Lenz L, Teixeira C, Fortuna M, Duarte T, et al. Effects of Pyridostigmine bromide on SH-SY5Y cells: An in vitro neuroblastoma neurotoxicity model. Mutat Res. 2017;823:1-10 pubmed publisher
  16. Hao L, WOLMAN M, Granato M, Beattie C. Survival motor neuron affects plastin 3 protein levels leading to motor defects. J Neurosci. 2012;32:5074-84 pubmed publisher
  17. Papathanasiou E, Zamba Papanicolaou E. A comparison between disposable and reusable single fiber needle electrodes in relation to stimulated single fiber studies. Clin Neurophysiol. 2012;123:1437-9 pubmed publisher
    ..The greater number of potentials obtained per acquisition run means that the examination can be performed quicker. Disposable single fiber needle use avoids the risk of prion infections and performs better than reusable needles. ..
  18. EPLEY K, Urban J, Ikenaga T, Ono F. A modified acetylcholine receptor delta-subunit enables a null mutant to survive beyond sexual maturation. J Neurosci. 2008;28:13223-31 pubmed publisher
    ..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. ..
  19. Farrugia M, Vincent A. Autoimmune mediated neuromuscular junction defects. Curr Opin Neurol. 2010;23:489-95 pubmed publisher
    ..This review summarizes the recent advances on pathogenesis of antibody-mediated disorders of the neuromuscular junction, and results of studies on clinical assessment and treatments...
  20. Hill M. The neuromuscular junction disorders. J Neurol Neurosurg Psychiatry. 2003;74 Suppl 2:ii32-ii37 pubmed
  21. Plomp J, Willison H. Pathophysiological actions of neuropathy-related anti-ganglioside antibodies at the neuromuscular junction. J Physiol. 2009;587:3979-99 pubmed publisher
    ..Furthermore, we will discuss the human clinical electrophysiological and histological evidence produced so far of the existence of a neuromuscular synaptopathy contributing to muscle weakness in GBS patients. ..
  22. Ness K, Hudson M, Pui C, Green D, Krull K, Huang T, et al. Neuromuscular impairments in adult survivors of childhood acute lymphoblastic leukemia: associations with physical performance and chemotherapy doses. Cancer. 2012;118:828-38 pubmed publisher
    ..Higher cumulative doses of vincristine and/or intrathecal methotrexate were associated with long-term neuromuscular impairments, which have implications on future function as these survivors age. ..
  23. Ishiyama Y. [Current neurophysiological tests and revised JSCN technical standards for clinical EEG]. Rinsho Byori. 2003;51:562-7 pubmed
    ..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. ..
  24. Finsterer J, Papić L, Auer Grumbach M. Motor neuron, nerve, and neuromuscular junction disease. Curr Opin Neurol. 2011;24:469-74 pubmed publisher
    ..Identification of crucial steps of the pathogenetic process may provide the basis for the development of novel therapeutic strategies. ..
  25. Miralles F. Computer simulation of jitter phenomenon in neuromuscular transmission disorders. Muscle Nerve. 2001;24:1635-46 pubmed
    ..In contrast, when the percentage of blocks is greater than 60%, the jitter value increases in both conditions. ..
  26. Gonzalez Hidalgo M. [Neurophysiological studies of the neuromuscular junction]. Rev Neurol. 2005;41:163-76 pubmed
    ..Single fibre EMG studies are the most sensitive method of neurophysiological diagnosis when dealing with these diseases. ..
  27. Witvrouw E, Werner S, Mikkelsen C, Van Tiggelen D, Vanden Berghe L, Cerulli G. Clinical classification of patellofemoral pain syndrome: guidelines for non-operative treatment. Knee Surg Sports Traumatol Arthrosc. 2005;13:122-30 pubmed
    ..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. ..
  28. Nazarian J, Bouri K, Hoffman E. Intracellular expression profiling by laser capture microdissection: three novel components of the neuromuscular junction. Physiol Genomics. 2005;21:70-80 pubmed
    ..Our LCM-based mRNA expression profiling provided us with new means of identification of specific genes potentially responsible for NMJ stability and function and new candidates for involvement in disease pathogenesis. ..
  29. Chen S, Tsai N, Chang C, Lu C, Huang C, Chuang Y, et al. Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis. BMC Neurol. 2011;11:63 pubmed publisher
    ..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...
  30. Whetstone Foster J, Clark A. Functional recovery after neuromuscular blockade in mechanically ventilated critically ill patients. Heart Lung. 2006;35:178-89 pubmed
    ..An estimated 24% to 70% of individuals have prolonged paralysis or severe weakness after receiving neuromuscular blocking agents (NMBAs) when therapy is terminated...
  31. Chauplannaz G, Vial C. [Electrodiagnostic assessment of neuromuscular junction disorders]. Rev Med Liege. 2004;59 Suppl 1:184-9 pubmed
    ..If negative, median and radial nerves should be studied. Additionally electrodiagnosis features of congenital myasthenic syndromes and botulism are reviewed...
  32. Nudler S, Piriz J, Urbano F, Rosato Siri M, Renteria E, Uchitel O. Ca2+ channels and synaptic transmission at the adult, neonatal, and P/Q-type deficient neuromuscular junction. Ann N Y Acad Sci. 2003;998:11-7 pubmed
    ..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...
  33. Mansukhani K, Doshi B. Interpretation of electroneuromyographic studies in diseases of neuromuscular junction and myopathies. Neurol India. 2008;56:339-47 pubmed
    ..This article reviews the role of ENMG in the evaluation of neuromuscular and muscle disease. We hope this will meet the requirements of both practicing neurologists and dedicated electromyographers...
  34. Wade A, Jacobs P, Morton A. Atrophy and degeneration in sciatic nerve of presymptomatic mice carrying the Huntington's disease mutation. Brain Res. 2008;1188:61-8 pubmed
    ..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...
  35. Ermilov L, Pulido J, Atchison F, Zhan W, Ereth M, Sieck G, et al. Impairment of diaphragm muscle force and neuromuscular transmission after normothermic cardiopulmonary bypass: effect of low-dose inhaled CO. Am J Physiol Regul Integr Comp Physiol. 2010;298:R784-9 pubmed publisher
    ..Further studies are needed to ascertain the underlying mechanisms of CPB-induced neuromuscular dysfunction and to establish the potential role of CO therapy...
  36. Wadman R, Vrancken A, van den Berg L, van der Pol W. Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3. Neurology. 2012;79:2050-5 pubmed publisher
    ..We therefore evaluated neuromuscular junction function in SMA with repetitive nerve stimulation...
  37. Camerino D, Desaphy J, Tricarico D, Pierno S, Liantonio A. Therapeutic approaches to ion channel diseases. Adv Genet. 2008;64:81-145 pubmed publisher
    ..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...
  38. Kariya S, Mauricio R, Dai Y, Monani U. The neuroprotective factor Wld(s) fails to mitigate distal axonal and neuromuscular junction (NMJ) defects in mouse models of spinal muscular atrophy. Neurosci Lett. 2009;449:246-51 pubmed publisher
  39. Rabie M, Jossiphov J, Nevo Y. Electromyography (EMG) accuracy compared to muscle biopsy in childhood. J Child Neurol. 2007;22:803-8 pubmed
    ..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...
  40. Chee F, Mudher A, Cuttle M, Newman T, Mackay D, Lovestone S, et al. Over-expression of tau results in defective synaptic transmission in Drosophila neuromuscular junctions. Neurobiol Dis. 2005;20:918-28 pubmed
    ..Our results demonstrate that tau over-expression in vivo cause a synaptic dysfunction, which may be caused by a reduced complement of functional mitochondria...
  41. Rich M. The control of neuromuscular transmission in health and disease. Neuroscientist. 2006;12:134-42 pubmed
    ..The review concludes with a discussion of mechanisms that may contribute to failure of neuromuscular transmission during repetitive stimulation...
  42. Meriggioli M, Rowin J. Fatigue and abnormal neuromuscular transmission in Kennedy's disease. Muscle Nerve. 2003;27:249-51 pubmed
  43. Urbano F, Rosato Siri M, Uchitel O. Calcium channels involved in neurotransmitter release at adult, neonatal and P/Q-type deficient neuromuscular junctions (Review). Mol Membr Biol. 2002;19:293-300 pubmed
    ..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...
  44. Katz J, Barohn R. Update on the evaluation and therapy of autoimmune neuromuscular junction disorders. Phys Med Rehabil Clin N Am. 2001;12:381-97 pubmed
    ..After a brief review of the pertinent scientific basis of these diseases, we focus on present issues governing the clinical evaluation and management of myasthenia gravis and the Lambert-Eaton myasthenic syndrome...
  45. Jen J, Wan J, Graves M, Yu H, Mock A, Coulin C, et al. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology. 2001;57:1843-8 pubmed
    ..To examine the functional consequences of episodic ataxia type 2 (EA2)-causing nonsense and missense mutations in vitro and to characterize the basis of fluctuating weakness in patients with E2A...
  46. Soler Martín C, Boadas Vaello P, Verdú E, Garcia N, Llorens J. Chronic proximal axonopathy in rats is associated with long-standing neurofilament depletion in neuromuscular junctions and behavioral deficits. J Neuropathol Exp Neurol. 2014;73:568-79 pubmed publisher
    ..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. ..
  47. Kuwabara S. [Neurophysiologic assessment of disorders affecting the neuromuscular junction]. Brain Nerve. 2011;63:713-7 pubmed
    ..In addition to confirming or excluding the diagnosis, these techniques can provide new insights into the pathophysiology of a variety of neuromuscular disorders...
  48. Dachs E, Hereu M, Piedrafita L, Casanovas A, Caldero J, Esquerda J. Defective neuromuscular junction organization and postnatal myogenesis in mice with severe spinal muscular atrophy. J Neuropathol Exp Neurol. 2011;70:444-61 pubmed publisher
    ..These findings raise questions regarding the primary contribution of a muscle cell defect to the SMA phenotype...
  49. Liewluck T, Shen X, Milone M, Engel A. Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord. 2011;21:387-95 pubmed publisher
    ..The safety margin of neuromuscular transmission is compromised by decreased quantal release by nerve impulse and by a reduced postsynaptic response to the released quanta...
  50. Michaud M, Arnoux T, Bielli S, Durand E, Rotrou Y, Jablonka S, et al. Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol Dis. 2010;38:125-35 pubmed publisher
    ..With median survival of 15 days and postnatal onset of neurodegeneration, these mice could be an important tool for evaluating new therapeutics...
  51. Darnell R, Posner J. Paraneoplastic syndromes affecting the nervous system. Semin Oncol. 2006;33:270-98 pubmed
    ..We review the currently known PND and their pathogenesis...
  52. Fanning R, O DONNELL B, Lynch B, Stephens M, O Donovan F. Anesthesia for sickle cell disease and congenital myopathy in combination. Paediatr Anaesth. 2006;16:880-3 pubmed
    ..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...
  53. Howard J. Electrodiagnosis of disorders of neuromuscular transmission. Phys Med Rehabil Clin N Am. 2013;24:169-92 pubmed publisher
    ..Electrodiagnostic testing, when used as an extension of the clinician's history and physical examination, will provide appropriate direction in establishing the diagnosis...
  54. Barbier J, Popoff M, Molgo J. Degeneration and regeneration of murine skeletal neuromuscular junctions after intramuscular injection with a sublethal dose of Clostridium sordellii lethal toxin. Infect Immun. 2004;72:3120-8 pubmed
    ..In addition, our data may provide an explanation for the severe neuromuscular alterations accompanying wound infections caused by C. sordellii...
  55. Zivkovic S, Shipe C. Use of repetitive nerve stimulation in the evaluation of neuromuscular junction disorders. Am J Electroneurodiagnostic Technol. 2005;45:248-61 pubmed
    ..While the technology has improved tremendously since then, the RNS testing is still based on supramaximal repetitive nerve stimulation and the measurement of decremental (or incremental) responses...
  56. Grira M, Benammou S, Lamouchi T, Harzallah M, Benslamia L. [Epilepsy and myasthenia: a case report]. Rev Neurol (Paris). 2004;160:93-5 pubmed
    ..We report a case of association in a woman who had epilepsy since the age of 9 years and developed myasthenia at the age of 23 years after having discontinued here anti-epileptic treatment for two years...
  57. Mouisel E, Blondet B, Escourrou P, Chatonnet A, Molgo J, Ferry A. Outcome of acetylcholinesterase deficiency for neuromuscular functioning. Neurosci Res. 2006;55:389-96 pubmed
    ..05). In conclusion AChE deficit leads to marked neuromuscular alterations in hind limb muscle functioning and a prominent symptom is the lack of resistance to fatigue...
  58. Hirsch N. Neuromuscular junction in health and disease. Br J Anaesth. 2007;99:132-8 pubmed
    ..It also describes the mechanisms and physiological basis of many of the disorders of the NMJ. Finally, the importance of these disorders in anaesthetic practice is discussed...
  59. Ito M, Suzuki Y, Okada T, Fukudome T, Yoshimura T, Masuda A, et al. Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction. Mol Ther. 2012;20:1384-92 pubmed publisher
    ..We propose that the protein-anchoring strategy is potentially applicable to a broad spectrum of diseases affecting extracellular matrix molecules...
  60. Papathanasiou E, Zamba Papanicolaou E. Differential orbicularis oculi involvement in neuromuscular junction dysfunction. J Clin Neurophysiol. 2008;25:293-8 pubmed publisher
    ..The purpose of this study is to demonstrate that the upper and lower OOc differ in how they behave during dysfunction...
  61. Juel V. Evaluation of neuromuscular junction disorders in the electromyography laboratory. Neurol Clin. 2012;30:621-39 pubmed publisher
    ..Jitter is increased in NMJ disorders, and is the temporal variability between these MFAPs. Impulse blocking reflects failure of NMT. RNS and SFEMG findings in NMJ disorders are reviewed...
  62. Galassi G, Canali E, Ariatti A, Valzania F. Concurrent chronic motor axonal polyneuropathy and synaptic impairment of neuromuscular junction. J Clin Neuromuscul Dis. 2011;12:223-6 pubmed publisher
    ..Impairment of neuromuscular transmission if occurring in chronic axonal neuropathies highlights mechanisms and significance of neuromuscular chronic "synaptopathies."..
  63. Apiwattanakul M, McKeon A, Pittock S, Kryzer T, Lennon V. Eliminating false-positive results in serum tests for neuromuscular autoimmunity. Muscle Nerve. 2010;41:702-4 pubmed publisher
    ..05% and 1.7% for AchR and VGKC autoantibodies, respectively. Specificity assurance in radioimmunoprecipitation assays requires subtraction of values for 125I-ligand binding...
  64. Ashraf G, Ali A, Tabrez S, Zaidi S, Shakil S, Alam M, et al. Linkage of Stress with Neuromuscular Disorders. CNS Neurol Disord Drug Targets. 2016;15:321-8 pubmed
    ..This in turn will help us gain new insights in the treatment of NMDs by aiding in improved symptoms, increased mobility and prolonged life. ..
  65. Coleman W, Bill C, Bykhovskaia M. Rab3a deletion reduces vesicle docking and transmitter release at the mouse diaphragm synapse. Neuroscience. 2007;148:1-6 pubmed
    ..This result is consistent with the proposed role of rab3a in trafficking and targeting vesicles to the active zones...
  66. Tai P, Yu E, Joseph K, Miale T. A review of autoimmune diseases associated with cancer. Front Biosci (Elite Ed). 2010;2:122-6 pubmed
    ..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...
  67. Lang B, Vincent A. Autoimmune disorders of the neuromuscular junction. Curr Opin Pharmacol. 2009;9:336-40 pubmed publisher
    ..General immunosuppression is still the main treatment, but novel treatments that reduce complement-mediated damage or inhibit the binding of pathogenic antibodies are beginning to look promising. ..
  68. Gaschen F, Jaggy A, Jones B. Congenital diseases of feline muscle and neuromuscular junction. J Feline Med Surg. 2004;6:355-66 pubmed
  69. Klooster R, Plomp J, Huijbers M, Niks E, Straasheijm K, Detmers F, et al. Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice. Brain. 2012;135:1081-101 pubmed publisher
  70. Jones H, Darras B. Acute care pediatric electromyography. Muscle Nerve Suppl. 2000;9:S53-62 pubmed
    ..An increased dialogue between clinical neurophysiologists and pediatric neurologists and intensivists in both neonatal and pediatric intensive care units is essential...
  71. van den Maagdenberg A, Plomp J. Neuromuscular synapse function in typical migraine. Cephalalgia. 2003;23:73-4 pubmed
  72. Pruitt J, Swift T. Therapies for disorders of the neuromuscular junction. Arch Neurol. 2002;59:739-42 pubmed
  73. Engin A, Tuzun D, Sahin G. Evaluation of pteridine metabolism in battery workers chronically exposed to lead. Hum Exp Toxicol. 2006;25:353-9 pubmed
    ..Urinary creatinine decreased. This is the first study to demonstrate that increased activity of the pteridine pathway results in the accumulation of the neurotransmitters that may be responsible for the neurological disorders...
  74. Vincent A, Leite M. Neuromuscular junction autoimmune disease: muscle specific kinase antibodies and treatments for myasthenia gravis. Curr Opin Neurol. 2005;18:519-25 pubmed
    ..Here we review recent clinical and experimental studies on MuSK antibody associated myasthenia gravis, and summarize the results of newer treatments for myasthenia gravis...
  75. Pelkonen A, Yavich L. Neuromuscular pathology in mice lacking alpha-synuclein. Neurosci Lett. 2011;487:350-3 pubmed publisher
    ..We conclude that alpha-synuclein may play a role in acetylcholine compartmentalization at the neuromuscular junction, and in the fine control of activity of skeletal muscles...
  76. Newsom Davis J. Neuromuscular junction channelopathies: a brief overview. Acta Neurol Belg. 2005;105:181-6 pubmed
    ..The Congenital Myasthenic Syndromes are a group of genetically determined heterogeneous disorders, usually recessively inherited. The commonest mutation sites appear to be the acetylcholine receptor epsilon-subunit and rapsyn...
  77. Balci K, Turgut N, Nurlu G. Normal values for single fiber EMG parameters of frontalis muscle in healthy subjects older than 70 years. Clin Neurophysiol. 2005;116:1555-7 pubmed
    ..In this study, we evaluated the reference values of jitter and fiber density of frontalis muscle in healthy subjects older than 70 years...
  78. Caillol G, Vacher H, Musarella M, Bellouze S, Dargent B, Autillo Touati A. Motor endplate disease affects neuromuscular junction maturation. Eur J Neurosci. 2012;36:2400-8 pubmed publisher
    ..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...
  79. Ueda A, Grabbe C, Lee J, Lee J, Palmer R, Wu C. Mutation of Drosophila focal adhesion kinase induces bang-sensitive behavior and disrupts glial function, axonal conduction and synaptic transmission. Eur J Neurosci. 2008;27:2860-70 pubmed publisher
    ..Together these findings suggest that modulation of Fak56 function is important for action potential propagation and Ca2+-regulated neuromuscular transmission in vivo...
  80. Fewou S, Plomp J, Willison H. The pre-synaptic motor nerve terminal as a site for antibody-mediated neurotoxicity in autoimmune neuropathies and synaptopathies. J Anat. 2014;224:36-44 pubmed publisher
  81. Mirbagheri M, Settle K, Harvey R, Rymer W. Neuromuscular abnormalities associated with spasticity of upper extremity muscles in hemiparetic stroke. J Neurophysiol. 2007;98:629-37 pubmed
    ..Finally, we compare the angular dependence of paretic elbow and ankle muscles and show that the modulation of reflex stiffness with position was strikingly different...
  82. Punga A, Nygren I, Askmark H, Stalberg E. Monozygous twins with neuromuscular transmission defects at opposite sides of the motor endplate. Acta Neurol Scand. 2009;119:207-11 pubmed publisher
    ..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...
  83. Chumillas M, Cortes V. [Electrodiagnosis in disorders of neuromuscular transmission]. Rev Neurol. 2000;30:65-70 pubmed
  84. Zhu X, Heunks L, Ennen L, Machiels H, van der Heijden H, Dekhuijzen P. Nitric oxide modulates neuromuscular transmission during hypoxia in rat diaphragm. Muscle Nerve. 2006;33:104-12 pubmed
    ..These data provide insight in the underlying mechanisms of hypoxia-induced neurotransmission failure. This is important as respiratory muscle failure may result from hypoxia in vivo...
  85. Laffey J, Tobin E, Boylan J, McShane A. Assessment of a simple artificial neural network for predicting residual neuromuscular block. Br J Anaesth. 2003;90:48-52 pubmed
    ..Artificial neural networks are being used increasingly to examine complex data. We hypothesized that a neural network would enhance prediction of PORC...
  86. Lorin S, Nierman D. Critical illness neuromuscular abnormalities. Crit Care Clin. 2002;18:553-68 pubmed
    ..The early recognition of CINMAs and prevention of associated complications are important to enabling CCI patients with CINMAs to recover and return home with an acceptable functional level and quality of life...
  87. Chey W, Cash B. Irritable bowel syndrome: update on colonic neuromuscular dysfunction and treatment. Curr Gastroenterol Rep. 2006;8:273-81 pubmed
    ..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...
  88. Shear T, Martyn J. Physiology and biology of neuromuscular transmission in health and disease. J Crit Care. 2009;24:5-10 pubmed publisher
    ..Recent elucidations of the pathophysiologic responses to neuromuscular injury and its clinical implications are also detailed...
  89. Baer A. Paraneoplastic muscle disease. Rheum Dis Clin North Am. 2011;37:185-200, v-vi pubmed publisher
    ..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...