congenital myasthenic syndromes

Summary

Summary: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)

Top Publications

  1. ncbi Clinical features of the DOK7 neuromuscular junction synaptopathy
    Jacqueline Palace
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, OX3 9DS, UK
    Brain 130:1507-15. 2007
  2. pmc The therapy of congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Neurotherapeutics 4:252-7. 2007
  3. ncbi Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes
    Violeta Mihaylova
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Brain 131:747-59. 2008
  4. pmc Identification of an agrin mutation that causes congenital myasthenia and affects synapse function
    Caroline Huze
    Equipe Différenciation Neuromusculaire, UMR 5239, Ecole Normale Supérieure Lyon, CNRS, Universite Lyon 1, Lyon, France
    Am J Hum Genet 85:155-67. 2009
  5. ncbi The congenital myasthenic syndromes
    Jackie Palace
    Department of Clinical Neurology, Level 3, West Wing, John Radcliffe Hospital, Headley Way, Headington OX3 9DU, UK
    J Neuroimmunol 201:2-5. 2008
  6. ncbi Dok-7 mutations underlie a neuromuscular junction synaptopathy
    David Beeson
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Science 313:1975-8. 2006
  7. ncbi Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
    Juliane S Muller
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Brain 130:1497-506. 2007
  8. ncbi Congenital myasthenic syndromes: genetic defects of the neuromuscular junction
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Curr Neurol Neurosci Rep 2:78-88. 2002
  9. ncbi Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission
    Juliane S Muller
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Expert Rev Mol Med 9:1-20. 2007
  10. pmc What have we learned from the congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Mol Neurosci 40:143-53. 2010

Research Grants

  1. Congenital Myasthenic Syndromes: Pathogenic Mechanisms
    RICARDO ANIBAL MASELLI; Fiscal Year: 2013
  2. SIGNALING BY MUSK, A COMPONENT OF THE AGRIN RECEPTOR
    STEVEN BURDEN; Fiscal Year: 2012
  3. A role for the miroRNA miR-133b in synapse development
    MARY PATRICIA HEYER; Fiscal Year: 2010
  4. Regulated Splicing of the Cholinergic Gene Locus
    James B Rand; Fiscal Year: 2011
  5. Wnt Signaling in Synaptic Prepattern formation and Motor Axon Guidance
    Laura R Gordon; Fiscal Year: 2011
  6. MULTIPLE ACTIVITY PATTERNS OF ACETYLCHOLINE RECEPTORS
    Anthony L Auerbach; Fiscal Year: 2013
  7. CONGENITAL MYASTHENIC SYNDROMES
    ANDREW GEORGE ENGEL; Fiscal Year: 2013
  8. NITRIC OXIDE IN NORMAL AND DISEASED OCULAR MUSCLE
    HENRY KAMINSKI; Fiscal Year: 2000
  9. MECHANISMS OF ACETYLCHOLINE RECEPTOR CLUSTERING
    Margaret Maimone; Fiscal Year: 1999
  10. Quality Control of Nicotinic Receptor Assembly
    William Green; Fiscal Year: 2005

Detail Information

Publications156 found, 100 shown here

  1. ncbi Clinical features of the DOK7 neuromuscular junction synaptopathy
    Jacqueline Palace
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, OX3 9DS, UK
    Brain 130:1507-15. 2007
    ..CMS due to DOK7 mutations are common within our UK cohort and is likely to be under-diagnosed; recognition of the phenotype will help clinical diagnosis, targeted genetic screening and appropriate management...
  2. pmc The therapy of congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Neurotherapeutics 4:252-7. 2007
    b>Congenital myasthenic syndromes (CMSs) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more mechanisms...
  3. ncbi Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes
    Violeta Mihaylova
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Brain 131:747-59. 2008
    b>Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission...
  4. pmc Identification of an agrin mutation that causes congenital myasthenia and affects synapse function
    Caroline Huze
    Equipe Différenciation Neuromusculaire, UMR 5239, Ecole Normale Supérieure Lyon, CNRS, Universite Lyon 1, Lyon, France
    Am J Hum Genet 85:155-67. 2009
    ..These results indicate that the mutation does not interfere with the ability of agrin to induce postsynaptic structures but that it dramatically perturbs the maintenance of the neuromuscular junction...
  5. ncbi The congenital myasthenic syndromes
    Jackie Palace
    Department of Clinical Neurology, Level 3, West Wing, John Radcliffe Hospital, Headley Way, Headington OX3 9DU, UK
    J Neuroimmunol 201:2-5. 2008
    The congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission characterised by fatigable muscle weakness...
  6. ncbi Dok-7 mutations underlie a neuromuscular junction synaptopathy
    David Beeson
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK
    Science 313:1975-8. 2006
    b>Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness...
  7. ncbi Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
    Juliane S Muller
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Brain 130:1497-506. 2007
    ..Subsequently, we and others identified mutations in DOK7 as a cause of congenital myasthenic syndromes (CMS), providing evidence for a crucial role of Dok-7 in maintaining synaptic structure...
  8. ncbi Congenital myasthenic syndromes: genetic defects of the neuromuscular junction
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Curr Neurol Neurosci Rep 2:78-88. 2002
    b>Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic, and postsynaptic proteins...
  9. ncbi Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission
    Juliane S Muller
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Expert Rev Mol Med 9:1-20. 2007
    ..b>Congenital myasthenic syndromes (CMSs) are a genetically and phenotypically heterogeneous group of rare hereditary disorders ..
  10. pmc What have we learned from the congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    J Mol Neurosci 40:143-53. 2010
    The congenital myasthenic syndromes have now been traced to an array of molecular targets at the neuromuscular junction encoded by no fewer than 11 disease genes...
  11. ncbi The spectrum of congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Mol Neurobiol 26:347-67. 2002
    The past decade saw remarkable advances in defining the molecular and genetic basis of the congenital myasthenic syndromes. These advances would not have been possible without antecedent clinical observations, electrophysiologic analysis,..
  12. ncbi Congenital myasthenic syndromes
    C Michel Harper
    Mayo College of Medicine, Rochester, Minnesota, USA
    Semin Neurol 24:111-23. 2004
    b>Congenital myasthenic syndromes are genetic disorders of neuromuscular transmission that should be considered in the differential diagnosis of seronegative myasthenia gravis and other neuromuscular disorders...
  13. ncbi A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin
    A Abicht
    Genzentrum und Friedrich Baur Institut, LMU Munchen, Germany
    Neurology 53:1564-9. 1999
    Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS).
  14. ncbi The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
    P Richard
    AP HP, UF Cardiogénétique et Myogénétique, Paris, France
    Neurology 71:1967-72. 2008
    ..A single truncating mutation (epsilon1293insG) in the acetylcholine receptor epsilon subunit gene (CHRNE) was most often identified in CMS families originating from North Africa and was possibly a founder mutation...
  15. pmc Further observations in congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Ann N Y Acad Sci 1132:104-13. 2008
    During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered...
  16. ncbi Congenital myasthenic syndromes and the formation of the neuromuscular junction
    David Beeson
    Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
    Ann N Y Acad Sci 1132:99-103. 2008
    The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromuscular transmission. Underlying mutations have been identified in at least 11 different genes...
  17. pmc Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome
    Jason S Groshong
    Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA
    J Clin Invest 117:2903-12. 2007
    ....
  18. pmc Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Am J Hum Genet 70:875-85. 2002
    b>Congenital myasthenic syndromes (CMSs) stem from genetic defects in endplate (EP)-specific presynaptic, synaptic, and postsynaptic proteins...
  19. ncbi Splicing abnormalities in congenital myasthenic syndromes
    Kinji Ohno
    Division of Neurogenetics and Bioinformatics, Department of Advanced Medical Science, Nagoya University Graduate School of Medicine, Japan
    Acta Myol 24:50-4. 2005
    A total of 173 mutations has been reported to date in eight genes in congenital myasthenic syndromes. Sixteen intronic and five exonic mutations in three genes affect pre-mRNA splicing...
  20. ncbi Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR
    John Ealing
    Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford OX3 9DS, UK
    Hum Mol Genet 11:3087-96. 2002
    Many congenital myasthenic syndromes (CMS) are associated with mutations in the genes encoding the acetylcholine receptor (AChR), an oligomeric protein with the structure alpha(2)betadelta epsilon...
  21. ncbi Congenital myasthenic syndromes: A diverse array of molecular targets
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905
    J Neurocytol 32:1017-37. 2003
    ..More recently, analysis of congenital myasthenic syndromes (CMS) revealed a diverse array of molecular targets and delineated their contributions to synaptic ..
  22. ncbi Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome
    R Webster
    Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK
    Neurology 62:1090-6. 2004
    Most congenital myasthenic syndromes (CMS) have postsynaptic defects from mutations within the muscle acetylcholine receptor (AChR)...
  23. ncbi Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction
    Andrew G Engel
    Neuromuscular Disease Research Laboratory, Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Ann N Y Acad Sci 998:138-60. 2003
    b>Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic, and postsynaptic proteins. The presynaptic CMS are associated with defects that curtail the evoked release of acetylcholine (ACh) quanta or ACh resynthesis...
  24. ncbi Congenital myasthenic syndromes in childhood: diagnostic and management challenges
    M Kinali
    The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and Institute of Child Health, University College, London, UK
    J Neuroimmunol 201:6-12. 2008
    The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems...
  25. ncbi Congenital myasthenic syndromes: progress over the past decade
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Muscle Nerve 27:4-25. 2003
    b>Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic basal lamina, and postsynaptic proteins...
  26. ncbi MUSK, a new target for mutations causing congenital myasthenic syndrome
    Frédéric Chevessier
    INSERM U582 and IFR Cur, Muscle, Vaisseaux, Institut de Myologie, Hôpital de la Salpêtrière and Université Pierre et Marie Curie, Paris, France
    Hum Mol Genet 13:3229-40. 2004
    ..These results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient...
  27. ncbi Variable phenotypes associated with mutations in DOK7
    Jennifer A Anderson
    Department of Neurology, University of California at Davis, Davis, CA 95618, USA
    Muscle Nerve 37:448-56. 2008
    ..Overall, our study corroborates the findings of others and provides an additional demonstration of the considerable phenotypic variability associated with CMS due to DOK7 mutations...
  28. pmc Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits
    C J Hatton
    Department of Pharmacology, University College London, London WC1E 6BT, UK
    J Physiol 547:729-60. 2003
    ....
  29. pmc Myasthenic syndrome caused by mutation of the SCN4A sodium channel
    Akira Tsujino
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Proc Natl Acad Sci U S A 100:7377-82. 2003
    ..The V1442E mutation in SCN4A defines a novel disease mechanism and a novel phenotype with myasthenic features...
  30. pmc Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
    Katrin Hoffmann
    Institute of Medical Genetics, Charite University Medical School, Humboldt University, 13353 Berlin, Germany
    Am J Hum Genet 79:303-12. 2006
    ....
  31. ncbi Congenital myasthenic syndromes
    Daniel Hantai
    Inserm U582 and Unité Clinique de Pathologie Neuromusculaire, Institut de Myologie, Hopital de la Salpetriere, Paris, France
    Curr Opin Neurol 17:539-51. 2004
    b>Congenital myasthenic syndromes are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission...
  32. ncbi Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients
    J S Müller
    Friedrich Baur Institute, Department of Neurology, and Gene Center, Ludwig Maximilians University, Munich, Germany
    Neurology 60:1805-10. 2003
    Mutations in various genes of the neuromuscular junction may cause congenital myasthenic syndromes (CMS)...
  33. ncbi Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering
    Ricardo A Maselli
    Department of Neurology, University of California, 1515 Newton Court, Room 510, Davis, California 95616, USA
    Muscle Nerve 28:293-301. 2003
    ..Surprisingly, two N88K homozygous patients had one asymptomatic relative each who carried the same genotype, suggesting that additional genetic factors to RAPSN mutations are required for disease expression...
  34. pmc High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays
    Lisa Denning
    Department of Neurology, University of California at Davis, Davis, California, United States of America
    PLoS ONE 2:e918. 2007
    ..We describe the performance of a custom resequencing microarray for mutational analysis of Congenital Myasthenic Syndromes (CMSs), a group of disorders in which the normal process of neuromuscular transmission is impaired.
  35. ncbi A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions
    Frédéric Chevessier
    Max Planck Institut fur medizinische Forschung, Heidelberg, Germany
    Hum Mol Genet 17:3577-95. 2008
    ..These mutant mice represent valuable models for elucidating the roles of MuSK for synapse formation, maturation and maintenance as well as for studying the pathophysiology of a CMS due to MuSK mutations...
  36. ncbi Congenital myasthenic syndromes
    Joseph H Nogajski
    Institute of Neurological Sciences, Prince of Wales Hospital, Randwick, New South Wales, Australia
    J Clin Neurosci 16:1-11. 2009
    b>Congenital myasthenic syndromes (CMS) are a heterogeneous group of uncommon, inherited disorders affecting the neuromuscular junction...
  37. pmc Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans
    K Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Proc Natl Acad Sci U S A 98:2017-22. 2001
    ....
  38. pmc Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome
    H L Wang
    Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905, USA
    J Gen Physiol 116:449-62. 2000
    ..The findings further suggest that the fundamental gating mechanism of the AChR channel can be explained by a corrugated energy landscape superimposed on a steeply sloped energy well...
  39. ncbi Current understanding of congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Curr Opin Pharmacol 5:308-21. 2005
    Investigation of congenital myasthenic syndromes (CMSs) disclosed a diverse array of molecular targets at the motor endplate...
  40. ncbi 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands
    David Beeson
    Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliff, Oxford, UK
    Neuromuscul Disord 15:498-512. 2005
  41. pmc Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 64:71-87. 2008
    ..Detailed analysis of phenotypic and molecular genetic aspects of Dok-7 myasthenia in 16 patients...
  42. ncbi End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations
    R Croxen
    Neurosciences Group, Institute of Molecular Medicine, The John Radcliffe Hospital, Headington, Oxford, UK
    Brain 124:1362-72. 2001
    Acetylcholine receptor (AChR) deficiency is the most common of the congenital myasthenic syndromes (CMS)...
  43. ncbi An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome
    J S Müller
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neurology 65:463-5. 2005
    ..In conclusion, RNA analysis may be necessary to reveal unexpected splicing aberrations due to intronic mutations that are not part of the consensus splice site...
  44. ncbi A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome
    Juliane S Muller
    Department of Neurology and Gene Center, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Neuromuscul Disord 14:744-9. 2004
    ..Interestingly, an Alu-mediated unequal homologous recombination may have caused the deletion. We hypothesize that numerous interspersed Alu elements may predispose the RAPSN locus for genetic rearrangements...
  45. ncbi Sleuthing molecular targets for neurological diseases at the neuromuscular junction
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Nat Rev Neurosci 4:339-52. 2003
  46. ncbi Congenital myasthenic syndromes: gene mutations
    Kinjii Ohno
    Neuromuscul Disord 14:117-22. 2004
  47. ncbi [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation]
    F Andreux
    INSERM 582 et Institut de Myologie, Hopital de la Pitie Salpetriere
    Rev Neurol (Paris) 160:163-76. 2004
    b>Congenital Myasthenic Syndromes (CMS) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission...
  48. ncbi Novel congenital myasthenic syndromes associated with defects in quantal release
    M Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 66:1223-9. 2006
    Most congenital myasthenic syndromes are caused by defects in postsynaptic or synaptic basal lamina-associated proteins; congenital myasthenic syndromes (CMSs) associated with presynaptic defects are uncommon...
  49. ncbi IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit
    Anna Fidzianska
    Neuromuscular Unit, Medical Research Centre, Pol Ac Sci Pawinskiego 5, 02 106 Warsaw, Poland
    Neuromuscul Disord 15:753-9. 2005
    ..Molecular genetic studies revealed a novel valine to phenylalanine mutation (epsilonV259F) in the M2 domain of the acetylcholine receptor. Coexistence of the slow-channel syndrome with a feature of IBM has not been observed before...
  50. ncbi [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]
    Frédéric Chevessier
    INSERM U582 and IFR 14, Institut de Myologie, Hôpital de La Salpêtrière et Université Pierre et Marie Curie, Paris, France
    J Soc Biol 199:61-77. 2005
    b>Congenital myasthenic syndromes (CMS) are rare genetic diseases affecting the neuromuscular junction (NMJ) and are characterized by a dysfunction of the neurotransmission...
  51. ncbi Distinct phenotypes of congenital acetylcholine receptor deficiency
    G Burke
    Department of Clinical Neurology, Radcliffe Infirmary, Oxford, UK
    Neuromuscul Disord 14:356-64. 2004
    ....
  52. ncbi Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
    J S Müller
    Friedrich Baur Institute, Department of Neurology, Munich, Germany
    Neurology 67:1159-64. 2006
    b>Congenital myasthenic syndromes (CMS) with underlying RAPSN mutations turned out to be of high clinical relevance due to their worldwide frequency...
  53. ncbi Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations
    J P Sieb
    Department of Neurology, University Hospital Bonn, Germany
    Hum Genet 107:160-4. 2000
    b>Congenital myasthenic syndromes (CMS) are inborn disorders due to presynaptic, synaptic, or postsynaptic defects of neuromuscular transmission...
  54. ncbi Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
    Judy Cossins
    Neurosciences Group, Weatherall Institute of Molecular Medicine, Churchill Hospital, Oxford, UK
    Brain 129:2773-83. 2006
    b>Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness...
  55. ncbi Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker
    Xin Ming Shen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Brain 128:345-55. 2005
    We trace the cause of congenital myasthenic syndromes in two patients to mutations in the epsilon subunit of the muscle acetylcholine receptor (AChR)...
  56. pmc Regulation of the rapsyn promoter by kaiso and delta-catenin
    Marianna Rodova
    Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, 66160 7421, USA
    Mol Cell Biol 24:7188-96. 2004
    ..We propose a new model of synapse-specific transcription that involves the interaction of Kaiso, delta-catenin, and myogenic transcription factors at the neuromuscular junction...
  57. ncbi Focal caspase activation underlies the endplate myopathy in slow-channel syndrome
    Bhupinder P S Vohra
    Departments of Neurology and Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA
    Ann Neurol 55:347-52. 2004
    ..These findings provide the first evidence supporting the view that caspase activation in human disease can play a prominent role in localized cellular degenerative processes without causing nuclear or cell death...
  58. ncbi [Differential congenital myasthenia syndrome diagnosis]
    S Spuler
    Neurologische Klinik, Charite, Berlin
    Nervenarzt 75:141-4. 2004
    Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare...
  59. ncbi Congenital myasthenic syndrome of Brahman cattle in South Africa
    P N Thompson
    Section of Epidemiology, Department of Production Animal Studies, University of Pretoria, Private Bag X04, 0110 Onderstepoort, South Africa
    Vet Rec 153:779-81. 2003
    ..Preliminary testing of Brahman cattle in South Africa has revealed several carrier animals, some of them influential animals in the breeding population...
  60. ncbi A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome
    Angela Abicht
    Genzentrum and Friedrich Baur Institut, Ludwig Maximilians University Munich, Germany
    Brain 125:1005-13. 2002
    b>Congenital myasthenic syndromes (CMSs) are frequently caused by mutations of the coding region of the acetylcholine receptor epsilon subunit (AChRepsilon) gene leading to a reduced expression of the acetylcholine receptor (AChR) at the ..
  61. ncbi Three novel COLQ mutations and variation of phenotypic expressivity due to G240X
    Y A Shapira
    Pediatric Neurology Unit, Hadassah University Hospital, Jerusalem
    Neurology 58:603-9. 2002
    ..To determine the molecular basis and consequences of endplate (EP) acetylcholinesterase (AChE) deficiency...
  62. pmc Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating
    Steven M Sine
    Receptor Biology Laboratory, Department of Physiology and Biophysics, and Mayo Foundation, Rochester, MN 55905, USA
    J Gen Physiol 120:483-96. 2002
    ..The overall results show that key residues at the ACh binding site differentially stabilize the agonist bound to closed, open and desensitized states, and provide a set point for gating of the channel...
  63. ncbi Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation
    X M Shen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 59:1881-8. 2002
    ..To determine the molecular basis of a disabling congenital myasthenic syndrome (CMS) observed in two related and one unrelated Arab kinship...
  64. ncbi Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene
    N Barisic
    Department of Pediatrics, Zagreb Medical School, Croatia
    Neuropediatrics 33:249-54. 2002
    Mutations in the epsilon-acetylcholine receptor (AChR epsilon) subunit gene cause congenital myasthenic syndromes (CMS) with postsynaptic neural transmission defects...
  65. ncbi Congenital endplate acetylcholinesterase deficiency responsive to ephedrine
    M Bestue-Cardiel
    Department of Neurology, Miguel Servet Hospital, Zaragoza, Spain
    Neurology 65:144-6. 2005
    ..In Patient 1, a Prostigmin (neostigmine bromide) test failed to distinguish between AChE deficiency and a slow-channel CMS. Both patients responded dramatically to ephedrine therapy...
  66. pmc Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
    Anne Michalk
    Institute for Medical Genetics, Charite University Medicine, Augustenburger Platz 1, D 13353 Berlin, Germany
    Am J Hum Genet 82:464-76. 2008
    ..We conclude that complete or severe functional disruption of fetal AChR causes lethal multiple pterygium syndrome whereas milder alterations result in fetal hypokinesia with inborn contractures or a myasthenic syndrome later in life...
  67. ncbi Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms
    Christopher M Gomez
    Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA
    Ann Neurol 51:102-12. 2002
    ..These studies demonstrate the role of previously unrecognized mechanisms of impairment of synaptic transmission caused by a novel mutation and show the importance of serial in vitro studies to elucidate novel disease mechanisms...
  68. ncbi Identification of pathogenic mutations in the human rapsyn gene
    Vanessa Dunne
    Department of Neurology, University of California, Davis, California 95616, USA
    J Hum Genet 48:204-7. 2003
    ..N88K occurs within the putative leucine zipper motif potentially important for AChR clustering. These findings may explain the severe clinical involvement of compound heterozygous patients...
  69. ncbi Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission
    J Jen
    Departments of Neurology, UCLA School of Medicine, Los Angeles, CA 90095 1769, USA
    Neurology 57:1843-8. 2001
    ..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...
  70. ncbi Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes
    David Beeson
    Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford OX3 9DS, United Kingdom
    Ann N Y Acad Sci 998:114-24. 2003
    The objective was to define the molecular mechanisms underlying congenital myasthenic syndromes (CMS) by studying mutations within genes encoding the acetylcholine receptor (AChR) and related proteins at the neuromuscular junction...
  71. ncbi Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation
    Eriko Yasaki
    INSERM U 582, Institut de Myologie, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Cedex 13, Paris, France
    Neuromuscul Disord 14:24-32. 2004
    b>Congenital myasthenic syndromes are rare heterogeneous hereditary disorders, which lead to defective neuromuscular transmission resulting in fatigable muscle weakness...
  72. ncbi Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations
    Rebecca Croxen
    Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, United Kingdom
    Neurology 58:1563-5. 2002
    ..The younger sister developed MG at 34 years. This unusual case raises the possibility that genetic defects of the AChR might be a factor in the etiology of autoimmune MG...
  73. ncbi Major review: the clinical spectrum of pediatric myasthenia gravis: blepharoptosis, ophthalmoplegia and strabismus. A report of 14 cases
    Kathryn M B McCreery
    Department of Ophthalmology, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas 77030, USA
    Binocul Vis Strabismus Q 17:181-6. 2002
    ..The purpose of this study is to evaluate the clinical spectrum of this condition in children and to identify factors that may aid the clinician in its diagnosis and management...
  74. ncbi Neuromuscular junction channelopathies: a brief overview
    John Newsom-Davis
    University of Oxford, Department of Clinical Neurology, Oxford, UK
    Acta Neurol Belg 105:181-6. 2005
    ..The Congenital Myasthenic Syndromes are a group of genetically determined heterogeneous disorders, usually recessively inherited...
  75. pmc Myasthenia gravis
    Vern C Juel
    Division of Neurology, Box 3403, Duke University Medical Center, Durham, North Carolina, 27710, USA
    Orphanet J Rare Dis 2:44. 2007
    ..Differential diagnosis includes congenital myasthenic syndromes, Lambert Eaton syndrome, botulism, organophosphate intoxication, mitochondrial disorders involving ..
  76. 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
    ....
  77. ncbi Primary periodic paralyses
    J Finsterer
    Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Neurol Scand 117:145-58. 2008
    ..To review the current knowledge about primary periodic paralyses (PPs)...
  78. pmc Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models
    José David Otero-Cruz
    Department of Biology, University of Puerto Rico, Rio Piedras Campus, San Juan, PR
    P R Health Sci J 29:4-17. 2010
    Despite the fact that they are orphan diseases, congenital myasthenic syndromes (CMS) challenge those who suffer from it by causing fatigable muscle weakness, in the most benign cases, to a progressive wasting of muscles that may ..
  79. pmc Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita
    S Brownlow
    Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom
    J Clin Invest 108:125-30. 2001
    ..Neuromuscular disorders are among the many different causes of reduced fetal movement. Many congenital myasthenic syndromes (CMSs) are due to mutations of the adult-specific epsilon subunit of the acetylcholine receptor (AChR)..
  80. ncbi Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'
    C R Slater
    School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, Bath, Newcastle upon Tyne, UK
    Brain 129:2061-76. 2006
    ..of neuromuscular junctions (NMJs) were studied in motor-point biopsy samples from eight patients with congenital myasthenic syndromes affecting primarily proximal limb muscles ['limb-girdle myasthenia' (LGM)]...
  81. ncbi [Neonatal hypotonia]
    R Erazo-Torricelli
    Hospital Luis Calvo Mackenna, Santiago de Chile, Chile
    Rev Neurol 31:252-62. 2000
    ..such as mitochondriopathies, peroxisomal diseases, disorders of the beta-oxidation of fatty acids, congenital myasthenic syndromes and botulism in infants have been described...
  82. ncbi Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes
    R Croxen
    Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Neurology 59:162-8. 2002
    Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance...
  83. ncbi Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes
    Juliane S Muller
    Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Hum Mol Genet 19:1726-40. 2010
    ..in partial loss of Dok-7 activity cause a distinct limb-girdle subtype of the inherited NMJ disorder congenital myasthenic syndromes (CMSs), whereas complete loss of Dok-7 results in a lethal phenotype in both mice and humans...
  84. ncbi [Neurophysiological testing in myasthenia syndromes]
    Anna Kostera-Pruszczyk
    Kliniki Neurologii AM w Warszawie
    Neurol Neurochir Pol 37:161-72. 2003
    ..g. repetitive response allow diagnosing congenital myasthenic syndromes such as slow channel syndrome or acetylcholine deficiency...
  85. ncbi Myasthenia and related disorders of the neuromuscular junction
    Jennifer Spillane
    UCL Institute of Neurology, Queen Square, London, UK
    J Neurol Neurosurg Psychiatry 81:850-7. 2010
    ..In addition, several rare congenital myasthenic syndromes have been identified, caused by inherited defects in presynaptic, synaptic basal lamina and ..
  86. ncbi [RNA pathologies in neurological disorders]
    Kinji Ohno
    Division of Neurogenetics and Bioinformatics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine
    Rinsho Shinkeigaku 47:801-4. 2007
    ..The neurological diseases covered include congenital myasthenic syndromes, genetic forms of Parkinson's disease, spastic paraplegia, myotonic dystrophy types 1 and 2, sporadic ..
  87. ncbi Neurophysiological strategies for the diagnosis of disorders of the neuromuscular junction in children
    Matthew Pitt
    Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children, London, UK
    Dev Med Child Neurol 50:328-33. 2008
    The disorders of the neuromuscular junction seen in children, the congenital myasthenic syndromes and autoimmune myasthenia gravis, are very rare. Their clinical symptoms and signs may be variable, most notably in the neonate and infant...
  88. ncbi Viral vector-mediated [corrected] expression of human collagen Q in cultured cells
    Mikako Ito
    Division of Neurogenetics, Center for Neurological Diseases and Cancer, Graduate School of Medicine, Nagoya University, 65 Tsurumai, Showa Ku, Nagoya, Japan
    Chem Biol Interact 175:346-8. 2008
    b>Congenital myasthenic syndromes are caused by mutations in molecules expressed at the neuromuscular junction...
  89. ncbi Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations
    K Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Hum Mol Genet 6:753-66. 1997
    ..The consequences of the endplate AChR deficiency are mitigated by persistent expression of gamma-AChR, changes in the release of transmitter quanta and appearance of multiple endplate regions on the muscle fiber...
  90. 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
    ..synaptic and postsynaptic proteins that are crucial to neuromuscular transmission have revealed a similar diversity of congenital myasthenic syndromes (CMS). These discoveries have had a major impact on diagnosis and management.
  91. ncbi The hypotonic infant: case study of central core disease
    Val Castrodale
    Neonatal Intensive Care Unit, St Vincent Family Life Center, Indianapolis, Indiana 46220, USA
    Neonatal Netw 22:53-9. 2003
    ..Clearly, muscle biopsy is the gold standard and is indicated for any infant with marked hypotonia that is not thought to be supraspinal in origin...
  92. ncbi Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes
    Raffaella Brugnoni
    Laboratory NBS Biotech, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy
    J Neurol 257:1119-23. 2010
    b>Congenital myasthenic syndromes are rare genetic disorders compromising neuromuscular transmission. The defects are mainly mutations in the muscle acetylcholine receptor, or associated proteins rapsyn and Dok-7...
  93. 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...
  94. ncbi [Recent advance in research for myasthenia gravis, in relation to various antibodies affecting synaptic structure and function]
    Masaharu Takamori
    Neurological Center, Kanazawa Nishi Hospital
    Rinsho Shinkeigaku 49:789-93. 2009
    ..4) When one faces "seronegative" MG, one should be cautious to conformation-specific antibodies and also congenital myasthenic syndromes.
  95. pmc Lrp4 is a receptor for Agrin and forms a complex with MuSK
    Natalie Kim
    Molecular Neurobiology Program, Skirball Institute of Biomolecular Medicine, Helen and Martin Kimmel Center for Biology and Medicine, NYU Medical School, New York, NY 10016, USA
    Cell 135:334-42. 2008
    ..in MuSK or downstream effectors are a major cause of a group of neuromuscular disorders, termed congenital myasthenic syndromes (CMS)...
  96. ncbi Effect of fluoxetine on neuromuscular function in acetylcholinesterase (AChE) knockout mice
    Christelle Bertrand
    Différenciation Cellulaire et Croissance UMR 866 INRA, Université Montpellier 1 and 2 Montpellier, 2 place Vila, Montpellier, France
    Chem Biol Interact 175:113-4. 2008
    b>Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. The causal mutations have been described in number of cases...
  97. ncbi Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome
    R Croxen
    Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Hum Mol Genet 6:767-74. 1997
    b>Congenital myasthenic syndromes are a group of rare genetic disorders that compromise neuromuscular transmission...
  98. ncbi A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome
    C M Gomez
    Department of Neurology, University of Minnesota, Minneapolis, 54555, USA
    Ann Neurol 39:712-23. 1996
    ..the acetylcholine receptor (AChR) subunits have been recognized in some patients with slow-channel congenital myasthenic syndromes (CMS)...
  99. ncbi Congenital myasthenic syndromes: II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor
    O Uchitel
    Medical Faculty, University of Buenos Aires, Argentina
    Muscle Nerve 16:1293-301. 1993
    ....
  100. ncbi Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing
    Karen Gaudon
    AP HP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, GH Pitié Salpétrière, Paris, France
    J Med Genet 47:795-6. 2010
    b>Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders that give rise to a defect in neuromuscular transmission...
  101. ncbi Nicotinic acetylcholine receptors of muscles and nerves: comparison of their structures, functional roles, and vulnerability to pathology
    Jon M Lindstrom
    Medical School of the University of Pennsylvania, Philadelphia, Pennsylvania 19104 6074, USA
    Ann N Y Acad Sci 998:41-52. 2003
    ..Mutations of their subunits cause congenital myasthenic syndromes. An autoimmune response to them causes myasthenia gravis (MG)...

Research Grants20

  1. Congenital Myasthenic Syndromes: Pathogenic Mechanisms
    RICARDO ANIBAL MASELLI; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Congenital Myasthenic Syndromes (CMS), which are a heterogeneous group of inborn diseases characterized by impaired transmission of electrical impulses at the neuromuscular junction (NMJ), result ..
  2. SIGNALING BY MUSK, A COMPONENT OF THE AGRIN RECEPTOR
    STEVEN BURDEN; Fiscal Year: 2012
    ..Further, mutations in Dok-7 are a major cause of neuromuscular disorders, termed congenital myasthenic syndromes (CMS)...
  3. A role for the miroRNA miR-133b in synapse development
    MARY PATRICIA HEYER; Fiscal Year: 2010
    ..mechanisms in NMJ development, and may provide insights into devastating NMJ disorders such as congenital myasthenic syndromes. This work will deepen our understanding of the complexities of synapse development, with future ..
  4. Regulated Splicing of the Cholinergic Gene Locus
    James B Rand; Fiscal Year: 2011
    ..in acetylcholine metabolism and/or cholinergic function have been identified in many neurological, neuromuscular, and psychiatric disorders, including congenital myasthenic syndromes, Alzheimer's disease, and depression.
  5. Wnt Signaling in Synaptic Prepattern formation and Motor Axon Guidance
    Laura R Gordon; Fiscal Year: 2011
    ..Furthermore, mutations in components of the MuSK pathway are responsible for human congenital myasthenic syndromes.
  6. MULTIPLE ACTIVITY PATTERNS OF ACETYLCHOLINE RECEPTORS
    Anthony L Auerbach; Fiscal Year: 2013
    ..Perturbations to the protein (for example mutations that cause the disease slow-channel congenital myasthenic syndromes) alter gating, and, hence, synaptic function, by changing the propagation of this Brownian ..
  7. CONGENITAL MYASTHENIC SYNDROMES
    ANDREW GEORGE ENGEL; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Support is requested for a multifaceted investigation of congenital myasthenic syndromes (CMS)...
  8. NITRIC OXIDE IN NORMAL AND DISEASED OCULAR MUSCLE
    HENRY KAMINSKI; Fiscal Year: 2000
    ..dystrophy and myasthenia gravis, the results of these investigations will be important for other disorders of extraocular muscle, such as strabismus, genetic ocular motility disorders, congenital myasthenic syndromes, and blepharospasm.
  9. MECHANISMS OF ACETYLCHOLINE RECEPTOR CLUSTERING
    Margaret Maimone; Fiscal Year: 1999
    ..In addition, this study may help to define the molecular basis of some congenital myasthenic syndromes which are characterized by a deficiency in AChRs in the postsynaptic membrane.
  10. Quality Control of Nicotinic Receptor Assembly
    William Green; Fiscal Year: 2005
    ..set of experiments will test whether pathology caused by certain AChR subunit mutations identified in congenital myasthenic syndromes results from defects in AChR assembly or quality control...
  11. Signal Amplification by an RTK/Abl Kinase Module
    Ann Marie Pendergast; Fiscal Year: 2007
    ..light on the signaling cascades affected in diseases stemming from aberrant NMJ function, such as the congenital myasthenic syndromes and myasthenia gravis, and may have broad implications for central synapse formation and ..
  12. GENETIC REGULATION OF ACETYLCHOLINE SYNTHESIS
    JAMES RAND; Fiscal Year: 2006
    ..in acetylcholine metabolism and/or cholinergic function have been identified in many neurological and psychiatric disorders, including congenital myasthenic syndromes, Alzheimer's disease, and depression. [unreadable] [unreadable]
  13. STRUCTURE AND FUNCTION OF THE ACETYLCHOLINE RECEPTOR
    STEVEN SINE; Fiscal Year: 2007
    ..uniform channel gating kinetics, (iv) determine mechanistic consequences of mutations underlying congenital myasthenic syndromes (CMS), (iv) determine whether conserved residues bounding putative secondary structures in the major ..
  14. Allosteric Coupling in Homomeric Cys-loop Receptors
    STEVEN SINE; Fiscal Year: 2009
    ..Knowledge of how Cys-loop receptors operate at the molecular level is essential to developing therapeutic strategies and drugs with fewer side effects. ..
  15. EAMG: MIR structure and specific immunosuppressive therapy
    Jon Lindstrom; Fiscal Year: 2009
    ..Our long term goal is to test an optimized therapy on canine MG as a model for human studies. ..
  16. 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. ..
  17. International Conference on Episodic Ataxia Syndromes
    Joanna Jen; Fiscal Year: 2005
    ..abstract_text> ..
  18. Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)
    Joanna C Jen; Fiscal Year: 2010
    ..abstract_text> ..
  19. 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. ..
  20. 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. ..