ANDREW GEORGE ENGEL

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi request reprint 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
  2. ncbi request reprint Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency
    K Ohno
    Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, Nagoya 466 8550, Japan
    Hum Genet 117:301. 2005
  3. 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
  4. pmc New horizons for congenital myasthenic syndromes
    Andrew G Engel
    Neuromuscular Research Laboratory, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    Ann N Y Acad Sci 1275:54-62. 2012
  5. pmc Current status of the congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, United States
    Neuromuscul Disord 22:99-111. 2012
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  8. ncbi request reprint 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
  9. ncbi request reprint Light on limb-girdle myasthenia
    Andrew G Engel
    Department of Neurology, Mayo Clinic Rochester, MN, USA
    Brain 129:1938-9. 2006
  10. ncbi request reprint 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

Research Grants

  1. CONGENITAL MYASTHENIC SYNDROMES
    Andrew Engel; Fiscal Year: 2001
  2. CONGENITAL MYASTHENIC SYNDROMES
    Andrew Engel; Fiscal Year: 2006
  3. CONGENITAL MYASTHENIC SYNDROMES
    Andrew Engel; Fiscal Year: 2007
  4. ELECTRON MICROSCOPY OF MYOPATHIES
    Andrew Engel; Fiscal Year: 1980
  5. ELECTRON MICROSCOPY OF MYOPATHIES
    Andrew Engel; Fiscal Year: 1990
  6. ELECTRON MICROSCOPY OF MYOPATHIES
    Andrew Engel; Fiscal Year: 1993
  7. CONGENITAL MYASTHENIC SYNDROMES
    ANDREW GEORGE ENGEL; Fiscal Year: 2010

Collaborators

Detail Information

Publications60

  1. ncbi request reprint 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
    ..In a subset of CMS patients, endplate AChR deficiency is caused by mutations in rapsyn, a molecule that plays a critical role in concentrating AChR in the postsynaptic membrane...
  2. ncbi request reprint Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency
    K Ohno
    Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, Nagoya 466 8550, Japan
    Hum Genet 117:301. 2005
  3. 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...
  4. pmc New horizons for congenital myasthenic syndromes
    Andrew G Engel
    Neuromuscular Research Laboratory, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    Ann N Y Acad Sci 1275:54-62. 2012
    ....
  5. pmc Current status of the congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, United States
    Neuromuscul Disord 22:99-111. 2012
    ..Despite these advances, the molecular basis of some phenotypically characterized CMS remains elusive. Moreover, other types of CMS and disease genes likely exist and await discovery...
  6. ncbi request reprint 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
    ....
  7. ncbi request reprint 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
    ..Recent crystallography studies of choline acetyltransferase and homology structural models of the acetylcholine receptor are providing further clues to how point mutations alter protein function...
  8. ncbi request reprint 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
  9. ncbi request reprint Light on limb-girdle myasthenia
    Andrew G Engel
    Department of Neurology, Mayo Clinic Rochester, MN, USA
    Brain 129:1938-9. 2006
  10. ncbi request reprint 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
    ..In a subset of CMS patients, endplate AChR deficiency is caused by mutations in rapsyn, a molecule that plays a critical role in concentrating AChR in the postsynaptic membrane...
  11. ncbi request reprint 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
    ..Future studies will likely uncover new types of CMS that reside in molecules governing quantal release, organization of the synaptic basal lamina, and expression and aggregation of AChR on the postsynaptic junctional folds...
  12. pmc The therapy of congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
    Neurotherapeutics 4:252-7. 2007
    ..Ephedrine has beneficial effects in some CMSs but its mechanism of action is not understood...
  13. 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
    ..4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS...
  14. 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
    ..Mutations in EP-specific proteins also prompted expression studies that proved pathogenicity, highlighted important functional domains of the abnormal proteins, and pointed to rational therapy...
  15. doi request reprint Congenital myasthenic syndromes in 2012
    Andrew G Engel
    Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Curr Neurol Neurosci Rep 12:92-101. 2012
    ....
  16. 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
    ..Expression studies in HEK cells indicate that none of the mutations hinders rapsyn self-association but that all three diminish coclustering of AChR with rapsyn...
  17. ncbi request reprint 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
    ..The overall studies reveal subunit asymmetry in the contributions of the M3-M4 loops in optimizing AChR activation through allosteric links to the channel and the agonist binding site...
  18. pmc Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating
    Xin Ming Shen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Clin Invest 111:497-505. 2003
    ..The overall findings reveal functional asymmetry between cys-loops of the different AChR subunits in contributing to ACh binding and channel gating...
  19. pmc Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating
    Xin Ming Shen
    Muscle Research Laboratory, Department of Neurology, Receptor Biology Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Clin Invest 118:1867-76. 2008
    ..Thus, deltaL42 is part of an intersubunit network that enables ACh binding to rapidly open the AChR channel, which may be compromised in patients with CM...
  20. ncbi request reprint Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 51:224-34. 2002
    ....
  21. ncbi request reprint Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM
    Nizar Chahin
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 70:418-24. 2008
    ..To correlate muscle biopsy findings with prebiopsy and postbiopsy clinical course and response to therapy in polymyositis (PM) and sporadic inclusion body myositis (IBM)...
  22. ncbi request reprint Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown
    Xin Ming Shen
    Neuromuscular Research Laboratory and Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 60:128-36. 2006
    ..To identify the genetic basis of a slow-channel myasthenic syndrome, characterize functional properties of the mutant receptor, and selectively silence the mutant allele...
  23. 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...
  24. 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...
  25. ncbi request reprint Recent advances in Cys-loop receptor structure and function
    Steven M Sine
    Department of Physiology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Nature 440:448-55. 2006
    ..Namely, analyses of disease-causing mutations have clarified receptor structure-function relationships as well as mechanisms governing the postsynaptic response...
  26. pmc Recent structural and mechanistic insights into endplate acetylcholine receptors
    Steven M Sine
    Receptor Biology Laboratory, Departments of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Ann N Y Acad Sci 1132:53-60. 2008
    ..Structural models of the human AChR enable precise mapping of disease-causing mutations, while studies of the speed with which single AChR channels open and close cast light on pathogenic mechanisms...
  27. ncbi request reprint Treatment of slow-channel congenital myasthenic syndrome with fluoxetine
    C Michel Harper
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 60:1710-3. 2003
    ..Both patients showed marked subjective and objective improvement by quantitative muscle strength testing and electromyography...
  28. ncbi request reprint Mutations in ZASP define a novel form of muscular dystrophy in humans
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 57:269-76. 2005
    ....
  29. ncbi request reprint Mechanistic diversity underlying fast channel congenital myasthenic syndromes
    Steven M Sine
    Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Medical School, Rochester, Minnesota 55905, USA
    Ann N Y Acad Sci 998:128-37. 2003
    ..This review focuses on new mechanisms underlying the FCCMS...
  30. pmc Mutation in BAG3 causes severe dominant childhood muscular dystrophy
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, NY, USA
    Ann Neurol 65:83-9. 2009
    ..Bag3, another Z-disk-associated protein, has antiapoptotic properties, and its targeted deletion in mice causes fulminant myopathy with early lethality. We therefore searched for mutations in BAG3 in 53 unrelated MFM patients...
  31. ncbi request reprint A frameshifting mutation in CHRNE unmasks skipping of the preceding exon
    Kinji Ohno
    Department of Neurology, Mayo Clinic, Rochester, MN, USA
    Hum Mol Genet 12:3055-66. 2003
    ..Indeed, we found that epsilonEF157V and epsilonE154X in exon 6, observed in two other patients, caused aberrant splicing of exon 6...
  32. ncbi request reprint Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Ann Neurol 54:804-10. 2003
    ....
  33. ncbi request reprint 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
    ..Null mutations in both alleles of other AChR subunits are likely lethal, owing to absence of a substituting subunit...
  34. ncbi request reprint Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
    Duygu Selcen
    Department of Neurology, Neuromuscular Research Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Brain 127:439-51. 2004
    ..Further advances in defining the molecular causes of MFM will probably come from linkage studies of informative kinships or from systematic search for mutations in proteins participating in the intricate network supporting the Z-disk...
  35. ncbi request reprint E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Hum Mol Genet 12:739-48. 2003
    ..Impaired transcriptional activities of the RAPSN promoter region predict reduced rapsyn expression and endplate acetylcholine receptor deficiency...
  36. pmc Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation
    Teerin Liewluck
    Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Neuromuscul Disord 20:801-4. 2010
    ..1269C>T (p.Arg369Trp) mutation. Necklace fibers were considered as a pathological hallmark of late onset X-linked CNM due to mutations in MTM1 but have not been observed in DNM2-CNM. The findings broaden the features of DNM2-myopathy...
  37. ncbi request reprint Mutations in myotilin cause myofibrillar myopathy
    Duygu Selcen
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 62:1363-71. 2004
    ..The authors' objective was to determine whether mutations in myotilin, a key Z-disk component and the disease protein in limb-girdle muscular dystrophy (LGMD) 1A, are another cause of MFM...
  38. ncbi request reprint Are MuSK antibodies the primary cause of myasthenic symptoms?
    Duygu Selcen
    Department of Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 62:1945-50. 2004
    ..To investigate the morphologic, electrophysiologic, and molecular correlates of muscle-specific tyrosine kinase-seropositive [MuSK(+)] myasthenia gravis (MG)...
  39. ncbi request reprint Sporadic late onset nemaline myopathy
    Nizar Chahin
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 65:1158-64. 2005
    ..To review the clinicopathologic features and outcome of sporadic late onset nemaline myopathy (SLONM)...
  40. ncbi request reprint Congenital myasthenic syndromes
    Andrew G Engel
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    Adv Neurol 88:203-15. 2002
  41. pmc Myasthenic syndrome caused by plectinopathy
    D Selcen
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Neurology 76:327-36. 2011
    ..Defects in plectin cause epidermolysis bullosa simplex (EBS), muscular dystrophy (MD), and sometimes pyloric atresia. Association of EBS with a myasthenic syndrome (MyS) was documented in a single patient in 1999...
  42. ncbi request reprint Congenital myasthenic syndromes
    Kinji Ohno
    Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Eur J Paediatr Neurol 7:227-8. 2003
  43. ncbi request reprint Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H
    Benedikt G H Schoser
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Ann Neurol 57:591-5. 2005
    ..The TRIM32 mutation found in the STM patients is identical to the causative mutation for LGMD2H (D487N), Haplotype analysis shows that the disease chromosomes share common ancestry...
  44. pmc Pathogenic point mutations in a transmembrane domain of the epsilon subunit increase the Ca2+ permeability of the human endplate ACh receptor
    Amalia Di Castro
    Istituto Pasteur Fondazione Cenci Bolognetti and Dipartimento di Fisiologia Umana e Farmacologia, Università La Sapienza P le A Moro 5 I 00185 Roma, Italy
    J Physiol 579:671-7. 2007
    ....
  45. ncbi request reprint 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
  46. ncbi request reprint Structural abnormalities at neuromuscular synapses lacking multiple syntrophin isoforms
    Marvin E Adams
    Department of Physiology and Biophysics, University of Washington, Seattle, Washington 98195, USA
    J Neurosci 24:10302-9. 2004
    ..We conclude that both alpha-syntrophin and beta2-syntrophin play distinct roles in forming and maintaining NMJ structure and that each syntrophin can partially compensate for the loss of the other...
  47. ncbi request reprint Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency
    K Ohno
    Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, Nagoya 466 8550, Japan
    Hum Genet 117:295. 2005
  48. ncbi request reprint Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency
    K Ohno
    Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, Nagoya 466 8550, Japan
    Hum Genet 117:301. 2005
  49. ncbi request reprint Gene symbol: CHRNE. Disease: Endplate acetylcholine receptor deficiency
    K Ohno
    Department of Neurogenetics and Bioinformatics, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa Ku, Nagoya 466 8550, Japan
    Hum Genet 117:302. 2005
  50. ncbi request reprint 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...
  51. pmc The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading
    Sergio Fucile
    Pasteur Institute Cenci Bolognetti Foundation and Department of Human Physiology and Pharmacology and Centre of Excellence for Biology and Molecular Medicine, University of Rome La Sapienza, Piazzale Aldo Moro 5 I 00185 Rome, Italy
    J Physiol 573:35-43. 2006
    ..However, the intrinsically high Ca2+ permeability of human AChRs probably predisposes to development of the endplate myopathy when opening events of the AChR channel are prolonged by altered AChR-channel kinetics...
  52. ncbi request reprint 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
    ..Splicing mutations may be more frequent than suspected, and one must always be aware of possible splicing abnormalities when analyzing human mutations...
  53. ncbi request reprint C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse
    Lewis M Kimbell
    Department of Cell Biology and Anatomy and Neuroscience Program, University of Miami School of Medicine, Miami, Florida 33136, USA
    J Biol Chem 279:10997-1005. 2004
    ..Our studies establish that the CTD mutations indeed compromise anchoring of ColQ and that both HSBD and CTD are essential for anchoring ColQ to the synaptic basal lamina...
  54. ncbi request reprint Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine
    Brenda L Banwell
    Department of Pediatrics Neurology, The Hospital for Sick Children, University of Toronto, Canada
    Neuromuscul Disord 14:202-7. 2004
    ....
  55. ncbi request reprint Congenital myasthenic syndromes: gene mutations
    Kinjii Ohno
    Neuromuscul Disord 14:117-22. 2004
  56. ncbi request reprint Congenital myasthenic syndromes:gene mutations
    Kinji Ohno
    Neuromuscul Disord 13:854-7. 2003
  57. pmc Choline acetyltransferase structure reveals distribution of mutations that cause motor disorders
    Yiying Cai
    Department of Molecular and Cellular Biochemistry, and Center for Structural Biology, University of Kentucky, Lexington, KY 40536, USA
    EMBO J 23:2047-58. 2004
    ..The structure indicates how ChAT is regulated by phosphorylation and reveals an unusual pattern of basic surface patches that may mediate membrane association or macromolecular interactions...
  58. ncbi request reprint Effects of ginsenosides, active components of ginseng, on nicotinic acetylcholine receptors expressed in Xenopus oocytes
    Seok Choi
    National Research Laboratory for the Study of Ginseng Signal Transduction and Department of Physiology, College of Veterinary Medicine, Chonnam National University, Kwangju, South Korea
    Eur J Pharmacol 442:37-45. 2002
    ..These results indicate that ginsenosides might regulate nicotinic acetylcholine receptors in a differential manner and this regulation might be one of the pharmacological actions of Panax ginseng...
  59. pmc Reconstitution of paired T cell receptor alpha- and beta-chains from microdissected single cells of human inflammatory tissues
    Sabine Seitz
    Institute for Clinical Neuroimmunology, Ludwig Maximilians University, D 81377 Munich, Germany
    Proc Natl Acad Sci U S A 103:12057-62. 2006
    ..After functional reconstitution of the alphabeta-pairs, their antigen-recognition properties could be studied. Our results open avenues for combined analysis of the full TCR alpha- and beta-chain repertoire in human inflammatory tissues...
  60. doi request reprint Translating research into treatments
    John H Noseworthy
    Neurology 71:232-3. 2008

Research Grants33

  1. CONGENITAL MYASTHENIC SYNDROMES
    Andrew Engel; Fiscal Year: 2001
    ..Moreover, recognition of spontaneous mutations in the EP nicotinic AChR should spur the search for mutations in neuronal nicotinic AChRs and other ligand-gated channels in various neurologic and psychiatric disorders. ..
  2. CONGENITAL MYASTHENIC SYNDROMES
    Andrew Engel; Fiscal Year: 2006
    ..abstract_text> ..
  3. CONGENITAL MYASTHENIC SYNDROMES
    Andrew Engel; Fiscal Year: 2007
    ..They frequently go undiagnosed or misdiagnosed yet their consequences are often highly disabling. The CMS will be studied by a multifaceted approach that will improve their diagnosis, treatment, and prevention. ..
  4. ELECTRON MICROSCOPY OF MYOPATHIES
    Andrew Engel; Fiscal Year: 1980
    ..In carnitine deficiency cultured muscle cells will be studied for a postulated abnormality of carnitine transport. The biochemical basis of an adult onset polyglucosan storage disease will be investigated...
  5. ELECTRON MICROSCOPY OF MYOPATHIES
    Andrew Engel; Fiscal Year: 1990
    ..In dermatomyositis the hypothesis will be tested that the pathologic features of the disease are mediated by a circulating autoantibody...
  6. ELECTRON MICROSCOPY OF MYOPATHIES
    Andrew Engel; Fiscal Year: 1993
    ..In the newly discovered mitochondrial encephalomyopathy due to coenzyme Q10 deficiency, the hypothesis will be tested that the disorder is caused by a defect in the mitochondrial biosynthesis of coenzyme Q10...
  7. CONGENITAL MYASTHENIC SYNDROMES
    ANDREW GEORGE ENGEL; Fiscal Year: 2010
    ..They frequently go undiagnosed or misdiagnosed yet their consequences are often highly disabling. The CMS will be studied by a multifaceted approach that will improve their diagnosis, treatment, and prevention. ..