GLRA1

Summary

Gene Symbol: GLRA1
Description: glycine receptor, alpha 1
Alias: HKPX1, STHE, glycine receptor 48 kDa subunit, glycine receptor strychnine-binding subunit, glycine receptor subunit alpha-1
Species: human

Top Publications

  1. ncbi Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome
    Neziha Gouider-Khouja
    Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis 1007, Tunisia
    Parkinsonism Relat Disord 8:285-8. 2002
  2. ncbi Relaxation of glycine receptor and onconeural gene transcription control in NRSF deficient small cell lung cancer cell lines
    Sabine B Neumann
    Institut fur Biochemie, Emil Fischer Zentrum, Friedrich Alexander Universitat Erlangen Nurnberg, Fahrstrasse 17, 91054, Erlangen, Germany
    Brain Res Mol Brain Res 120:173-81. 2004
  3. ncbi [Stiff-person syndrome: a case report]
    I Cabo-Lopez
    Servicio de Neurologia, Fundacion Jimenez Diaz, Madrid, Espana
    Rev Neurol 47:249-52. 2008
  4. doi Stiff-person syndrome associated with multiple myeloma following autologous bone marrow transplantation
    Erin C Clow
    Department of Medicine, Dalhousie University, Halifax, Nova Scotia B3H 3A7, Canada
    Muscle Nerve 38:1649-52. 2008
  5. ncbi [Interstitial pneumonia associated with stiff-person syndrome]
    Satoshi Hokari
    Division of Respiratory Medicine, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences
    Nihon Kokyuki Gakkai Zasshi 48:162-5. 2010
  6. pmc Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia
    D Langosch
    Max Planck Institut für Hirnforschung, Frankfurt, Germany
    EMBO J 13:4223-8. 1994
  7. doi Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia
    Seo Kyung Chung
    Institute of Life Science, School of Medicine, Swansea University, Swansea, United Kingdom
    J Neurosci 30:9612-20. 2010
  8. pmc Kinetic determinants of agonist action at the recombinant human glycine receptor
    Trevor M Lewis
    Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia
    J Physiol 549:361-74. 2003
  9. ncbi Ethanol potentiation of glycine receptors expressed in Xenopus oocytes antagonized by increased atmospheric pressure
    Daryl L Davies
    Alcohol and Brain Research Laboratory, Department of Molecular Pharmacology and Toxicology, School of Pharmacy, University of Southern California, Los Angeles, CA 90033, USA
    Alcohol Clin Exp Res 27:743-55. 2003
  10. pmc Binding site stoichiometry and the effects of phosphorylation on human alpha1 homomeric glycine receptors
    Luc J Gentet
    John Curtin School of Medical Research, Australian National University, Canberra, ACT 0200, Australia
    J Physiol 544:97-106. 2002

Detail Information

Publications186 found, 100 shown here

  1. ncbi Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome
    Neziha Gouider-Khouja
    Service de Neurologie, Institut National de Neurologie, La Rabta, Tunis 1007, Tunisia
    Parkinsonism Relat Disord 8:285-8. 2002
    ..The observation reported in this paper gives evidence that both the disorders are probably two clinical presentations of the same pathogenic process...
  2. ncbi Relaxation of glycine receptor and onconeural gene transcription control in NRSF deficient small cell lung cancer cell lines
    Sabine B Neumann
    Institut fur Biochemie, Emil Fischer Zentrum, Friedrich Alexander Universitat Erlangen Nurnberg, Fahrstrasse 17, 91054, Erlangen, Germany
    Brain Res Mol Brain Res 120:173-81. 2004
    ..of 5'-flanking regions of glycine receptor (GlyR) subunit genes revealed a consensus motif for NRSE in the GLRA1 and GLRA3, but not in GLRB, genes...
  3. ncbi [Stiff-person syndrome: a case report]
    I Cabo-Lopez
    Servicio de Neurologia, Fundacion Jimenez Diaz, Madrid, Espana
    Rev Neurol 47:249-52. 2008
    ..The nature of the syndrome is considered to be autoimmune, with positive glutamic acid decarboxylase (anti-GAD) antibodies in most patients. These antibodies exert an influence over GABAergic transmission...
  4. doi Stiff-person syndrome associated with multiple myeloma following autologous bone marrow transplantation
    Erin C Clow
    Department of Medicine, Dalhousie University, Halifax, Nova Scotia B3H 3A7, Canada
    Muscle Nerve 38:1649-52. 2008
    ..We speculate that an aberrant posttransplant immune response may have caused both the SPS and an autologous graft-versus-myeloma effect, resulting in prolonged remission posttransplant...
  5. ncbi [Interstitial pneumonia associated with stiff-person syndrome]
    Satoshi Hokari
    Division of Respiratory Medicine, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences
    Nihon Kokyuki Gakkai Zasshi 48:162-5. 2010
    ..He has needed continuous rehabilitation due to the progression of neurological symptoms despite the partial efficacy of anti-epilepsy agents. We report a case of interstitial pneumonia with stiff-person syndrome...
  6. pmc Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia
    D Langosch
    Max Planck Institut für Hirnforschung, Frankfurt, Germany
    EMBO J 13:4223-8. 1994
    ..In addition, our data reveal that structural modifications of the ion-channel region can affect agonist binding to the glycine receptor...
  7. doi Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia
    Seo Kyung Chung
    Institute of Life Science, School of Medicine, Swansea University, Swansea, United Kingdom
    J Neurosci 30:9612-20. 2010
    ..is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) alpha1 subunit (GLRA1) and the presynaptic glycine transporter GlyT2 (SLC6A5)...
  8. pmc Kinetic determinants of agonist action at the recombinant human glycine receptor
    Trevor M Lewis
    Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia
    J Physiol 549:361-74. 2003
    ..Based upon these data, we propose a kinetic scheme with three independent open states, where the opening rates are dependent upon the activating agonist, while the closing rates are an intrinsic characteristic of the receptor...
  9. ncbi Ethanol potentiation of glycine receptors expressed in Xenopus oocytes antagonized by increased atmospheric pressure
    Daryl L Davies
    Alcohol and Brain Research Laboratory, Department of Molecular Pharmacology and Toxicology, School of Pharmacy, University of Southern California, Los Angeles, CA 90033, USA
    Alcohol Clin Exp Res 27:743-55. 2003
    ....
  10. pmc Binding site stoichiometry and the effects of phosphorylation on human alpha1 homomeric glycine receptors
    Luc J Gentet
    John Curtin School of Medical Research, Australian National University, Canberra, ACT 0200, Australia
    J Physiol 544:97-106. 2002
    ..The model suggests that only three binding sites on the glycine channel are functional, while the remaining two binding sites are 'silent', possibly due to strong negative cooperativity...
  11. ncbi The beta subunit determines the ligand binding properties of synaptic glycine receptors
    Joanna Grudzinska
    Department of Neurochemistry, Max Planck Institute for Brain Research, Deutschordenstrasse 46, D 60528 Frankfurt am Main, Germany
    Neuron 45:727-39. 2005
    ..Because the beta subunit anchors GlyRs at synaptic sites, our results have important implications for the biosynthesis, clustering, and pharmacology of synaptic GlyRs...
  12. ncbi Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating
    B Saul
    Institut fur Biochemie, Universitat Erlangen Nurnberg, D 91054 Erlangen, Germany
    J Neurosci 19:869-77. 1999
    Missense mutations as well as a null allele of the human glycine receptor alpha1 subunit gene GLRA1 result in the neurological disorder hyperekplexia [startle disease, stiff baby syndrome, Mendelian Inheritance in Man (MIM) #149400]...
  13. pmc Cation-selective mutations in the M2 domain of the inhibitory glycine receptor channel reveal determinants of ion-charge selectivity
    Angelo Keramidas
    Department of Physiology and Pharmacology, University of New South Wales, Sydney 2052, Australia
    J Gen Physiol 119:393-410. 2002
    ..This result provides evidence that the diameter of the ion channel is also an important factor in ion charge selectivity...
  14. pmc Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis
    F V Elmslie
    Department of Paediatrics, University College London, Medical School, Rayne Institute, London, UK
    J Med Genet 33:435-6. 1996
    ..Mutations have been described in GLRA1, the gene encoding the alpha 1 subunit of the glycine receptor, in dominant families with hyperekplexia and in a ..
  15. pmc Single channel analysis of conductance and rectification in cation-selective, mutant glycine receptor channels
    Andrew J Moorhouse
    Department of Physiology and Pharmacology, University of New South Wales, Sydney 2052, Australia
    J Gen Physiol 119:411-25. 2002
    ..These results also further confirm the role of external pore vestibule electrostatics in determining the conductance and rectification properties of the ligand-gated ion channels...
  16. ncbi Functional recovery of glycine receptors in spastic murine model of startle disease
    Annamaria Molon
    Research Center for Genetic Medicine, Children s National Medical Center, Department of Pediatrics, 111 Michigan Ave NW, Washington, DC 20010, USA
    Neurobiol Dis 21:291-304. 2006
    ..littermates that recovered from symptoms showed strong over-expression of the glycine receptor alpha 1 subunit (Glra1), and increased myelination and synaptic plasticity...
  17. ncbi A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death
    M S Buckwalter
    Department of Human Genetics, University of Michigan Medical School, Medical Science II, Ann Arbor 48109 0618
    Hum Mol Genet 3:2025-30. 1994
    ..Oscillator is caused by a microdeletion in the gene coding for the alpha 1 subunit of the adult glycine receptor (Glra1)...
  18. ncbi The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system
    C Kling
    Institut fur Biochemie, Universitat Erlangen Nurnberg, Erlangen, Germany
    Neuroscience 78:411-7. 1997
    Mice homozygous for the recessive mutation oscillator (Glra1(spd-ot)) suffer from a complex motor disorder leading to death within three weeks after birth...
  19. doi Novel expression of a functional glycine receptor chloride channel that attenuates contraction in airway smooth muscle
    Peter D Yim
    Department of Anesthesiology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    FASEB J 25:1706-17. 2011
    ..Messenger RNA for β (GLRB), α1 (GLRA1), α2 (GLRA2), and α4 (GLRA4) subunits were found in human (Homo sapiens) and guinea pig (Cavia porcellus) ..
  20. ncbi Increased startle responses in mice carrying mutations of glycine receptor subunit genes
    M Koch
    Universitat Tubingen, Germany
    Neuroreport 7:806-8. 1996
    An exaggerated startle response caused by mutations of the alpha 1 subunit gene of the inhibitory glycine receptor (GLRA1) is the key symptom of human hyperekplexia or startle disease...
  21. ncbi The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism
    N Milani
    Institut fur Biochemie, Universitat Erlangen Nurnberg, Germany
    Genomics 50:341-5. 1998
    The glycine receptor of the human CNS comprises ligand-binding alpha 1 and structural beta subunits encoded by the GLRA1 and GLRB genes, respectively...
  22. doi Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association
    Albert Saiz
    Service of Neurology, Hospital Clinic and Institut d Investigació Biomèdica August Pi i Sunyer IDIBAPS, Barcelona, Spain
    Brain 131:2553-63. 2008
    ..Lastly, in patients who develop neurological syndromes that suggest a PNS, the finding of GAD-ab does not rule out this possibility and appropriate studies should be done to confirm an underlying cancer...
  23. ncbi Intravenous immunoglobulin in autoimmune neuromuscular diseases
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA
    JAMA 291:2367-75. 2004
    ..These mechanisms may explain the effectiveness of IVIG in autoimmune neuromuscular disorders...
  24. ncbi The use of intravenous immunoglobulin in the treatment of autoimmune neuromuscular diseases: evidence-based indications and safety profile
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, National Institutes of Health, MSC 1382, Room 4N248, Building 10, 10 Center Drive, Bethesda, MD 20892 1382, USA
    Pharmacol Ther 102:177-93. 2004
    ..v.Ig with other immunosuppressive drugs...
  25. ncbi Role of IVIg in autoimmune, neuroinflammatory and neurodegenerative disorders of the central nervous system: present and future prospects
    Marinos C Dalakas
    Neuromuscular Diseases Section, NINDS, National Institutes of Health, Building 10, Room 4N248, 10 Center Drive MSC, Bethesda, MD 20892 1382, USA
    J Neurol 253:V25-32. 2006
    ..Emerging data suggest that IVIg may have a role not only in certain antibody-mediated CNS diseases but also in some neurodegenerative disorders associated with "neuroinflammation" mediated by proinflammatory cytokines...
  26. ncbi Intravenous immunoglobulin therapy for neurological disorders
    Catriona Harkins
    Glasgow Royal Infirmary, Glasgow, Scotland
    N Z Med J 122:41-6. 2009
    ..To determine the extent to which the use of intravenous human immunoglobulin for neurological conditions complied with the guidelines of the Australian Health Minister's Advisory Council...
  27. ncbi Brain gamma-aminobutyric acid changes in stiff-person syndrome
    Lucien M Levy
    Neuroimaging Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Arch Neurol 62:970-4. 2005
    ....
  28. ncbi Guidelines on the use of intravenous immune globulin for neurologic conditions
    Tom Feasby
    IVIG Hematology and Neurology Expert Panels
    Transfus Med Rev 21:S57-107. 2007
    ..Development and dissemination of evidence-based clinical practice guidelines may help to facilitate appropriate use of IVIG...
  29. doi Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays
    Li Wang
    LRF Molecular Haematology Unit, Nuffield Department of Clinical, Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Haematologica 93:994-1000. 2008
    ..Single nucleotide polymorphism array analysis has been shown to detect not only gene deletions but also regions of uniparental disomy that can pinpoint particular regions for mutation analysis...
  30. ncbi [A case of immune-mediated encephalopathy showing refractory epilepsy and extensive brain MRI lesions associated with anti-glutamic acid decarboxylase antibody]
    Yuko Kobayakawa
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University
    Rinsho Shinkeigaku 50:92-7. 2010
    ..This case suggests that anti-GAD antibodies could contribute to unexplained encephalopathy with extensive brain MRI lesions and drug-resistant symptomatic epilepsy...
  31. ncbi High-dose intravenous immune globulin for stiff-person syndrome
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1382, USA
    N Engl J Med 345:1870-6. 2001
    ..Because stiff-person syndrome is most likely immune-mediated, we evaluated the efficacy of intravenous immune globulin...
  32. pmc Characterization of CD4+ T cells specific for glutamic acid decarboxylase (GAD65) and proinsulin in a patient with stiff-person syndrome but without type 1 diabetes
    Arno Hänninen
    Department of Medical Microbiology and Immunology, University of Turku, Turku, Finland
    Diabetes Metab Res Rev 26:271-9. 2010
    ..Approximately 30% of patients with SPS develop diabetes, yet, it is unclear to which extent co-existing autoimmunity to GAD65 and other islet autoantigens determines the risk of developing T1D...
  33. ncbi [Anesthetic management for thymectomy in a patient with stiff-person syndrome]
    Taketo Nakamura
    Department of Anesthesiology and Intensive Care Medicine, Graduate School of Medicine, Osaka City University, Osaka 545 8586
    Masui 56:1200-2. 2007
    ..Since many anesthetics are respiratory suppressants that can delay the recovery of respiratory function, careful monitoring of respiratory condition is required postoperatively...
  34. ncbi Neurologic paraneoplastic syndromes
    E J Dropcho
    Department of Neurology, Indiana University Medical Center, Indianapolis 46202, USA
    J Neurol Sci 153:264-78. 1998
    ..Among different syndromes, a varied proportion of patients shows neurologic improvement with immunosuppressive treatments; it is likely that many patients have already suffered irreversible neuronal injury at the time of diagnosis...
  35. doi Antibodies and neuronal autoimmune disorders of the CNS
    Francesc Graus
    Servei de Neurologia, Hospital Clinic, Institut d Investigacio Biomedica August Pi i Sunyer, Villarroel 170, 08036, Barcelona, Spain
    J Neurol 257:509-17. 2010
    ....
  36. ncbi Effects of anti-glutamic acid decarboxylase antibodies associated with neurological diseases
    Mario Ubaldo Manto
    Laboratoire de Neurologie Expérimentale, Hopital Erasme, Universite Libre de Bruxelles, Bruxelles, Belgium
    Ann Neurol 61:544-51. 2007
    ..However, the pathogenic role of GAD-Ab in neurological diseases remains a matter of debate...
  37. pmc Paraneoplastic neurological syndromes
    Jerome Honnorat
    Inserm U 842, Universite Claude Bernard Lyon 1, Lyon, France
    Orphanet J Rare Dis 2:22. 2007
    ..As PNS are believed to be immune-mediated, suppression of the immune response represents another treatment approach...
  38. ncbi Efficacy of various intravenous immunoglobulin therapy protocols in autoimmune and chronic inflammatory disorders
    Hakan M Gürcan
    Department of Medicine, Center for Blistering Diseases, New England Baptist Hospital, Boston, MA 02120, USA
    Ann Pharmacother 41:812-23. 2007
    ..To determine the efficacy of various intravenous immunoglobulin (IVIG) protocols used in the treatment of autoimmune and chronic inflammatory disorders...
  39. ncbi Intravenous immunoglobulin in patients with anti-GAD antibody-associated neurological diseases and patients with inflammatory myopathies: effects on clinicopathological features and immunoregulatory genes
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Clin Rev Allergy Immunol 29:255-69. 2005
    ..In tissues, IVIg restores tissue cytoarchitecture by suppressing the inflammatory mediators at the protein, mRNA, and gene level...
  40. doi Paraneoplastic movement disorders
    Robin Grant
    Edinburgh Centre for Neuro Oncology, Western General Hospital, Edinburgh, United Kingdom
    Mov Disord 24:1715-24. 2009
    ..Early identification and treatment sometimes leads to neurological improvement and may improve cancer prognosis. Prognosis is dependent on the tumor type and its likely response to treatment...
  41. doi Stiff person syndrome associated with lower motor neuron disease and infiltration of cytotoxic T cells in the spinal cord
    Trygve Holmøy
    Department of Neurology, Oslo University Hospital Ulleval, Oslo, Norway
    Clin Neurol Neurosurg 111:708-12. 2009
    ....
  42. ncbi Paraneoplastic effects on neurophthalmologic function
    Debamalya Ray
    Department of Otorhinolaryngology ENT, Blackpool Victoria Hospital, Blackpool, England, U K
    Otol Neurotol 28:860-2. 2007
    ..Few studies have focused on patients presenting with paraneoplastic syndrome before a cancer is identified...
  43. ncbi [Case of antiamphiphysin antibody-positive stiff-person syndrome with breast cancer diagnosed by FDG-PET]
    Yoshiharu Taguchi
    The Department of Neurology, Toyama University Hospital
    Rinsho Shinkeigaku 48:410-4. 2008
    ..If there is possibility of paraneoplastic syndromes like stiff-person syndrome, FDG-PET is very useful for detecting the occult carcinoma...
  44. ncbi Stiff-person syndrome with acute recurrent peripheral vertigo: possible evidence of gamma aminobutyric acid as a neurotransmitter in the vestibular periphery
    R Teggi
    ENT Department, San Raffaele Hospital, Vita Salute University, Milan, Italy
    J Laryngol Otol 122:636-8. 2008
    ..We report a case of a 58-year-old man suffering from stiff-person syndrome and recurrent peripheral vertigo...
  45. ncbi [The use of intravenous immunglobulin in the treatment of autoimmune neuromuscular diseases]
    Maria Judit Molnar
    Orszagos Pszichiatriai es Neurologiai Intezet, Budapest
    Ideggyogy Sz 59:98-106. 2006
    ..For the analysis of pharmacoeconomical aspects and the mechanism(s) of response differences in the same disease categories, further studies are necessary...
  46. ncbi [Two stiff person cases misdiagnosed as conversion disorder]
    Suzan Ozer
    Hacettepe U Tip Fak, Psikiyatri AD, Cocuk Ruh Sağliği, Ankara
    Turk Psikiyatri Derg 20:392-7. 2009
    ....
  47. pmc New advances in the treatment of neurological diseases using high dose intravenous immunoglobulins
    Martin Stangel
    Department of Neurology Hannover Medical School Carl Neuberg Str 1 30625 Hannover Germany
    Ther Adv Neurol Disord 1:52-61. 2008
    ..The results of recently published clinical trials in both the classical neuroimmunological disorders as well as for new indications are reported and their role in clinical practice is discussed...
  48. ncbi Paraneoplastic stiff-person syndrome: passive transfer to rats by means of IgG antibodies to amphiphysin
    Claudia Sommer
    Department of Neurology, University of Wurzburg, Wurzburg, Germany
    Lancet 365:1406-11. 2005
    ..Proof of a causal role of the antibodies is still lacking for this and all other antibody-associated paraneoplastic syndromes of the central nervous system...
  49. pmc Phylogeny of Annelida (Lophotrochozoa): total-evidence analysis of morphology and six genes
    Jan Zrzavý
    Faculty of Science, University of South Bohemia, 370 05 Ceske Budejovice, Czech Republic
    BMC Evol Biol 9:189. 2009
    ..b>SThe "total-evidence" analyses combining morphological and molecular characters have been published for a few annelid ..
  50. ncbi Stiff-person syndrome: a case report and review of the literature
    Steve Egwuonwu
    Department of Internal Medicine, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine, 4800 Alberta Ave, El Paso, TX 79905, USA
    J Natl Med Assoc 102:1261-3. 2010
    ..This case report describes stiff-person syndrome in association with pernicious anemia and diabetes mellitus. A review of the literature discusses the diagnosis and treatment of this rare entity...
  51. doi GAD65 IgG autoantibodies in stiff person syndrome: clonality, avidity and persistence
    G Skorstad
    Department of Neurology, Ulleval University Hospital, Oslo, Norway
    Eur J Neurol 15:973-80. 2008
    ..Persistent intrathecal production of IgG autoantibodies against glutamic acid decarboxylase 65 (GAD65 IgG) and oligoclonal IgG of undetermined specificity has been reported in stiff person syndrome (SPS)...
  52. doi GAD antibody-associated neurological illness and its relationship to gluten sensitivity
    M Hadjivassiliou
    Department of Neurology, The Royal Hallamshire Hospital, Sheffield, UK
    Acta Neurol Scand 123:175-80. 2011
    ..The high prevalence of gluten sensitivity in patients with stiff-person syndrome (SPS) lead us to investigate the relationship between gluten sensitivity and GAD-antibody-associated diseases...
  53. ncbi [Anesthesia for a patient with stiff-person syndrome]
    Yuta Aoki
    Department of Anesthesiology, Faculty of Medicine, University of Toyama, Toyama 930 0194
    Masui 57:447-9. 2008
    ..Preoperative good symptom control, choice of total intravenous anesthesia (TIVA), and application of the electrical nerve stimulator prevented postoperative hypotonia and resulted in safe anesthetic management...
  54. ncbi The stiff-person syndrome. Case report
    C Piovano
    Chair of Anesthesia and Resuscitation, d Annunzio University, Chieti, Italy
    Minerva Anestesiol 68:861-5. 2002
    ..Immunomodulatory agents such as steroids, plasmapheresis and intravenous immunoglobulin, seem to offer substantial improvement...
  55. ncbi The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acid
    L M Levy
    Neuroimaging Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Ann Intern Med 131:522-30. 1999
    ..Results of an ongoing controlled trial will elucidate the role of these agents in the treatment of the disease...
  56. pmc Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q
    S G Ryan
    Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284
    Am J Hum Genet 51:1334-43. 1992
    Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to ..
  57. pmc Central nervous system destruction mediated by glutamic acid decarboxylase-specific CD4+ T cells
    Amanda R Burton
    Department of Immunology, St Jude Children s Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105 3678, USA
    J Immunol 184:4863-70. 2010
    ..These findings suggest that GAD65-reactive CD4(+) T cells alone mediate a lethal encephalomyelitis-like disease that may serve as a useful model to study GAD65-mediated diseases of the CNS...
  58. ncbi Stiff person syndrome: quantification, specificity, and intrathecal synthesis of GAD65 antibodies
    M C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Diseases and Stroke, NIH, Bethesda, MD 20892 1382, USA
    Neurology 57:780-4. 2001
    ..To characterize the specificity of anti-GAD(65) antibodies in patients with stiff person syndrome (SPS), quantify antibody titers, and examine antibody production within the CNS...
  59. ncbi Applications of transcranial magnetic stimulation in movement disorders
    Roberto Cantello
    Department of Medical Sciences, Section of Neurology, School of Medicine, Amedeo Avogadro University, Novara, Italy
    J Clin Neurophysiol 19:272-93. 2002
    ..There is reason to predict that TMS, with its continuous technical refinement, will prove even more helpful in the near future. Then, research achievements are reasonably expected to spill over into clinical practice...
  60. ncbi High-resolution physical mapping of human 5q31-q33 using three methods: radiation hybrid mapping, interphase fluorescence in situ hybridization, and pulsed-field gel electrophoresis
    J A Warrington
    Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717
    Genomics 24:395-8. 1994
    ..Based upon a combination of data, the predicted order of the 12 loci is cen-ADRB2-PDEA-CSF1R-RPS14-ANX6-SPARC++ +-GLRA1-GLUR1-ADRA1B-IL12- GABRG2-GABRA1-tel...
  61. ncbi A rare saccade velocity profile in Stiff-Person Syndrome with cerebellar degeneration
    Ari Z Zivotofsky
    Gonda Brain Research Center, Bar Ilan University, Ramat Gan 52900, Israel
    Brain Res 1093:135-40. 2006
    ..In addition, this unusual saccadic velocity profile may have important implications for modeling the saccadic system and furthering a complete understanding of saccade generation...
  62. ncbi [Influence of uncinate process on aerodynamic characteristics of nasal cavity and maxillary sinus]
    Guan xia Xiong
    Otorhinolaryngology Hospital, First Affiliated Hospital of Sun Yat sen University, Guangzhou 510080, China
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 44:10-5. 2009
    ..This study aimed to investigate the influence of uncinate process on air flow velocity, trace, distribution, air pressure, as well as the air flow exchange of nasal cavity and paranasal sinuses...
  63. doi 11C-flumazenil positron emission tomography demonstrates reduction of both global and local cerebral benzodiazepine receptor binding in a patient with Stiff Person Syndrome
    Norbert Galldiks
    Dept of Neurology, University of Cologne, Kerpener Str 62, 50924, Cologne, Germany
    J Neurol 255:1361-4. 2008
    ..These data provide first in vivo evidence for a reduced postsynaptic GABA-A receptor availability which may reflect the loss of GABAergic neuronal inhibition in SPS...
  64. ncbi Scleritis in a person with stiff-person syndrome
    Mehryar Taban
    Department of Ophthalmology, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Ocul Immunol Inflamm 15:37-9. 2007
    ..To describe a case of anterior scleritis in a patient with stiff-person syndrome...
  65. ncbi Using immunoglobulins in muscular disease treatment
    Refik Pul
    Department of Neurology, Hannover Medical School, Carl Neuberg Street 1, 30625 Hannover, Germany
    Expert Opin Biol Ther 8:1143-50. 2008
    ..This led to the licensing and recommendation of IVIg as first-line treatment for Kawasaki disease, idiopathic thrombocytopenic purpura and Guillain-Barré syndrome...
  66. doi A case of stiff-person syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformis
    Eoin P O'Sullivan
    Department of Diabetes and Endocrinology, Beaumont Hospital, Dublin 9, Ireland
    Clin Neurol Neurosurg 111:384-6. 2009
    ..We discuss why SPS and type 1 diabetes co-exist in only a minority of cases and speculate on the underlying mechanism of the association with CD and dermatitis herpetiformis in our patient...
  67. ncbi Stiff-person syndrome
    Beth Brianna Murinson
    Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA
    Neurologist 10:131-7. 2004
    ..Stiff-person syndrome (SPS) is a rare neurologic disorder with autoimmune features. It is characterized by progressive, severe muscle rigidity or stiffness most prominently affecting the spine and lower extremities...
  68. ncbi Stiff person syndrome and myasthenia gravis
    P K Saravanan
    Neurol India 50:98-100. 2002
    ..This communication documents this association in the Indian literature for the first time...
  69. ncbi Analysis of GAD65 autoantibodies in Stiff-Person syndrome patients
    Raghavanpillai Raju
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    J Immunol 175:7755-62. 2005
    ..A mAb (N-GAD65 mAb) recognizing this N-terminal epitope was successfully humanized to enhance its potential therapeutic value by reducing its overall immunogenicity...
  70. ncbi [Successful treatment of the backward-bending attack due to generalized spasm in stiff-person syndrome with intravenous immune globulin therapy]
    Yuko Wada
    Department of Neurology, Tenri Hospital, 200 Mishima cho, Tenri shi, Nara 632 8552, Japan
    No To Shinkei 55:147-51. 2003
    ..Subsequently muscle stiffness improved. One week after, he was able to walk without assistance. IVIG may be useful for treatment of generalized spasm, which had no response to treatment with diazepam or clonazepam...
  71. ncbi Hyperekplexia: a treatable neurogenetic disease
    Lan Zhou
    Children s Hospital of Michigan, Wayne State University School of Medicine, 3901 Beaubien Boulevard, Detroit, MI 48201, USA
    Brain Dev 24:669-74. 2002
    ..Different mutations in the alpha1 subunit of inhibitory glycine receptor (GLRA1) gene have been identified in many affected families...
  72. ncbi Startle syndromes
    Mirte J Bakker
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
    Lancet Neurol 5:513-24. 2006
    ..This form has a genetic basis: mutations in the alpha1 subunit of the glycine receptor gene, GLRA1, or related genes...
  73. doi A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form
    Masafumi Sanefuji
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Japan
    Brain Dev 35:575-8. 2013
    ..Childhood SPS may be characterized by absent anti-GAD antibodies and a transient benign clinical course, and it may have a pathomechanism distinct from that in adult SPS...
  74. ncbi Clinical spectrum of anti-glycine receptor antibody-associated disease
    Takahiro Iizuka
    Department of Neurology, Kitasato University, School of Medicine
    Rinsho Shinkeigaku 53:1063-6. 2013
    ..Phenotype associated with the anti-GlyR antibodies may be broader than previously thought, but among those PERM is the most common phenotype. ..
  75. doi Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay
    Rhys H Thomas
    1 Institute of Life Science, College of Medicine, Swansea University, SA2 8PP, UK
    Brain 136:3085-95. 2013
    ..Two genes encode for subunits of the postsynaptic inhibitory glycine receptor, GLRA1 encoding the α1 subunit and GLRB encoding the β subunit...
  76. pmc Immunization against GAD induces antibody binding to GAD-independent antigens and brainstem GABAergic neuronal loss
    Thashi Chang
    Neuroimmunology Group, Weatherall Institute of Molecular Medicine and Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom Department of Clinical Medicine, University of Colombo, Colombo, Sri Lanka
    PLoS ONE 8:e72921. 2013
    ....
  77. pmc Activation and desensitization induce distinct conformational changes at the extracellular-transmembrane domain interface of the glycine receptor
    Qian Wang
    Queensland Brain Institute and School of Biomedical Sciences, University of Queensland, Brisbane QLD 4072, Australia
    J Biol Chem 286:38814-24. 2011
    ....
  78. ncbi [Botulinum toxin A in the treatment of stiff man syndrome]
    Anna Szczepańska-Szerej
    Katedry i Kliniki Neurologii AM w Lublinie
    Neurol Neurochir Pol 37:175-81. 2003
    ..Using BTA injections into involved muscles for the treatment of SPS can be followed by marked functional improvement and reducing the need for systemic drugs...
  79. doi GAD autoantibody epitope pattern after GAD-alum treatment in children and adolescents with type 1 diabetes
    Camilla Skoglund
    Division of Pediatrics and Diabetes Research Centre, Department of Clinical and Experimental Medicine, Linkoping University, Linkoping, Sweden
    Pediatr Diabetes 13:244-50. 2012
    ..The aim of this study was to investigate whether GAD-alum treatment affected the GADA epitope pattern...
  80. doi Clinical features and genetic analysis of children with hyperekplexia in Korea
    Cha Gon Lee
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    J Child Neurol 28:90-4. 2013
    ..Until now, 5 genes are known to be associated with hyperekplexia: GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9...
  81. pmc Autoimmune stiff person syndrome and related myelopathies: understanding of electrophysiological and immunological processes
    Goran Rakocevic
    Department of Neurology, Thomas Jefferson University, 900 Walnut Street, Suite 200, Philadelphia, Pennsylvania 19107, USA
    Muscle Nerve 45:623-34. 2012
    ..In this review, we discuss the clinical spectrum, neurophysiological mechanisms, and therapeutic options, including a rationale for agents that modulate B-cell function in SPS...
  82. ncbi Biochemical markers of autoimmune diseases of the nervous system
    Hayrettin Tumani
    Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081 Ulm, Germany
    Curr Pharm Des 18:4556-63. 2012
    ..We provide an overview over the widening field of autoimmune diseases of the central and peripheral nervous system and discuss the current state of biomarker research and its relevance for clinical practice...
  83. pmc Neuromuscular manifestations of west nile virus infection
    A Arturo Leis
    Center for Neuroscience and Neurological Recovery, Methodist Rehabilitation Center Jackson, MS, USA
    Front Neurol 3:37. 2012
    ..Human experience with these agents seems promising based on anecdotal reports...
  84. doi Human IgG directed against amphiphysin induces anxiety behavior in a rat model after intrathecal passive transfer
    Christian Geis
    Department of Neurology, University of Wurzburg, Josef Schneider Strasse 11, Wurzburg, Germany
    J Neural Transm 119:981-5. 2012
    ..We propose that antibody-mediated amphiphysin deficiency may account for anxiety behavior in stiff person syndrome via presynaptic dysregulation of GABAergic pathways...
  85. doi Sitagliptin in glutamic acid decarboxylase antibody-positive diabetes mellitus
    Narayanan Kandasamy
    Wolfson Diabetes and Endocrine Clinic, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, UK
    Endocr Pract 18:e65-8. 2012
    ....
  86. ncbi Monoclonal antibodies in the treatment of neuroimmunological diseases
    Paulus S Rommer
    Department of Neurology, Medical University of Vienna Department of Neurology, Wahringer Gurtel 18 20, A 1090 Wien Vienna, Austria
    Curr Pharm Des 18:4498-507. 2012
    ....
  87. pmc Inhibition of the ethanol-induced potentiation of α1 glycine receptor by a small peptide that interferes with Gβγ binding
    Loreto San Martin
    Department of Physiology, Faculty of Biological Sciences, University of Concepcion, 403901 Concepcion, Chile
    J Biol Chem 287:40713-21. 2012
    ..Gβγ interaction with GlyR is an important determinant in ethanol potentiation of this channel...
  88. doi Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation
    Amna Mohammed Al-Futaisi
    Department of Child Health, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman
    Pediatr Neurol 46:89-93. 2012
    ..Patients exhibited a novel homozygote c.593G>C missense mutation in GLRA1, resulting in amino acid substitution p.W170S in the corresponding mature glycine receptor α1 subunit...
  89. pmc Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype
    Andrew McKeon
    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
    JAMA Neurol 70:44-50. 2013
    ....
  90. doi Human Stiff person syndrome IgG-containing high-titer anti-GAD65 autoantibodies induce motor dysfunction in rats
    Niels Hansen
    Department of Neurology, University of Wurzburg, Josef Schneider Strasse 11, 97080 Wurzburg, Germany
    Exp Neurol 239:202-9. 2013
    ..GABAergic dysfunction in supraspinal motor pathways rather than in the spinal cord may lead to motor deficits observed in the rats contrasting observations made in SPS with amphiphysin antibodies...
  91. doi Trialing of intrathecal baclofen therapy for refractory stiff-person syndrome
    J Camp Newton
    Department of AnesthesiologyUniversity of Kentucky Medical Center, Lexington, KY, USA
    Reg Anesth Pain Med 38:248-50. 2013
    ..The patient was effectively trialed with an intrathecal catheter and subsequently treated with chronic intrathecal baclofen, which provided significant relief of spasticity symptoms...
  92. doi Use of intravenous immunoglobulin and plasma exchange in neurological disease
    Ralf A Linker
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
    Curr Opin Neurol 21:358-65. 2008
    ....
  93. ncbi Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia
    M I Rees
    Department of Molecular Medicine, University of Auckland Medical School, Postbag 92019, Auckland, New Zealand
    Hum Genet 109:267-70. 2001
    ..Dominant and recessive mutations in GLRA1 subunits have been associated with a proportion of individuals and families with startle disease or hyperekplexia (..
  94. doi IVIg in other autoimmune neurological disorders: current status and future prospects
    Marinos Dalakas
    Neuromuscular Division, Dept of Neurology, 900 Walnut St, 2nd Floor, Philadelphia, PA 19107, USA
    J Neurol 255:12-6. 2008
    ..In conclusion, IVIg appears to be an effective treatment for a number of autoimmune disorders, however, optimal dosing and pharmacogenetic studies are necessary...
  95. ncbi A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia
    E M del Giudice
    Department of Pediatrics, Second University of Naples, Naples, Italy
    Eur J Hum Genet 9:873-6. 2001
    ..identified a novel missense mutation in the pore-lining M2 domain of the alpha1 subunit of the glycine receptor (GLRA1)...
  96. doi Mapping a molecular link between allosteric inhibition and activation of the glycine receptor
    Paul S Miller
    Department of Pharmacology, University College London, Gower Street, London WC1E 6BT, UK
    Nat Struct Mol Biol 15:1084-93. 2008
    ..We provide a new view for the activation of a Cys-loop receptor where, following agonist binding, the hydrophobic core and interfacial loops reorganize in a concerted fashion to induce downstream gating...
  97. doi Immunobiology of stiff-person syndrome
    Raghavan Raju
    Department of Surgery, University of Alabama at Birmingham, Birmingham, Alabama 35294 0019, USA
    Int Rev Immunol 27:79-92. 2008
    ..Clin. Neuropathol. 16: 214-219, 1997; Ishizawa et al., Acta Neuropathol.(Berl) 97: 63-70, 1999]. This review discusses the possible role of autoantibodies and autoreactive T cells specific to neuronal antigens in SPS pathogenesis...
  98. doi Invited article: inhibition of B cell functions: implications for neurology
    Marinos C Dalakas
    Neuromuscular Diseases Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Neurology 70:2252-60. 2008
    ..In uncontrolled series, benefit has been reported in several disorders. B cell depletion is a well-tolerated therapeutic option currently explored in the treatment of several autoimmune neurologic disorders...
  99. pmc The lack of anti-idiotypic antibodies, not the presence of the corresponding autoantibodies to glutamate decarboxylase, defines type 1 diabetes
    Shilpa Oak
    Department of Medicine, University of Washington, HSB 165, 1959 Pacific Street NE, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 105:5471-6. 2008
    ..The lack of these inhibitory antibodies may contribute to T cell activation by GAD65Ab...
  100. ncbi A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking
    Andreas Humeny
    Institut fur Biochemie, Emil Fischer Zentrum, Friedrich Alexander Universitat Erlangen Nurnberg, D91054 Erlangen, Germany
    Eur J Hum Genet 10:188-96. 2002
    ..Several autosomal dominant and recessive forms of the disorder have been associated with point mutations in GLRA1, the human gene encoding the alpha 1 subunit of the inhibitory glycine receptor...
  101. pmc Overexpression and functional characterization of the extracellular domain of the human alpha1 glycine receptor
    Zhenyu Liu
    Center for Neuroscience, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Biochemistry 47:9803-10. 2008
    ..Thus, GlyBP may be isolated as a soluble or membrane-associated assembly that serves as a structural and functional homologue of the ECD of GlyR...

Research Grants52

  1. STUDIES OF YEAST BTNLP AND HUMAN CLN3P IN YEAST
    David Pearce; Fiscal Year: 2006
    ..An understanding of the function of Btnlp (and Cln3p) in yeast could furnish valuable information on Batten's disease in humans. ..
  2. 2nd International Pathogenesis of Rare Neuroimmunologic Disorders
    Douglas Kerr; Fiscal Year: 2006
    ..The workshop will solicit participation from both senior and junior scientists/students in order to stimulate long-term research in these disorders. The proceedings will be disseminated in the medical literature. ..
  3. Pathogenesis of Rare Neuroimmunologic Disorders
    Douglas Kerr; Fiscal Year: 2004
    ..We believe this workshop will serve a critical role in advancing our understanding of disorders that are pathophysiologically linked yet, because of their rarity, are poorly understood. ..
  4. Determination of Glycine Receptor Structure Using FT-ESR
    Sunil Saxena; Fiscal Year: 2007
    ....
  5. Determination of Glycine Receptor Structure Using FT-ESR
    Sunil K Saxena; Fiscal Year: 2010
    ....
  6. QUANTITATIVE STUDIES OF THE BIOTIN REGULATORY SYSTEM
    Dorothy Beckett; Fiscal Year: 2000
    ..Thermodynamic coupling moreover, exists between sthe individual interactions...
  7. Sites and Mechanisms of Ethanol Action in P2X receptors
    DARYL DAVIES; Fiscal Year: 2009
    ....
  8. Sites and Mechanisms of Ethanol Action in P2X receptors
    DARYL DAVIES; Fiscal Year: 2007
    ....
  9. Pressure-Based Pharmacological Alcoholism Treatments
    DARYL DAVIES; Fiscal Year: 2005
    ..These agents can form the bases of novel prevention and treatment strategies for alcoholism and alcohol abuse. ..
  10. ISLET CELL MEMBRANE ANTIBODIES IN DIABETES
    Christiane S Hampe; Fiscal Year: 2010
    ..This research aims to uncover the mechanisms of the early immune response to GAD65 and the relationship between the autoantibody response maturation and progression to clinical onset of T1D. ..
  11. Studies of Yeast BTN1P and Human CLN3P in Yeast
    David Pearce; Fiscal Year: 2009
    ..Finally we will characterize the pathway of trafficking Btnlp to the vacuole. Further understanding of Btnlp (and ClnSp) in yeast will provide valuable information on the pathogenesis of Batten disease. ..
  12. The Autoimmune Response of Battens Disease
    David Pearce; Fiscal Year: 2009
    ..PUBLIC HEALTH RELEVANCE: The proposed research is relevant and significant as it has the potential to increase our understanding of Batten's Disease and ultimately impact therapeutic strategies for this disease. ..
  13. YEAST BTNLP AND HUMAN CLN3P IN YEAST
    David Pearce; Fiscal Year: 2000
    ..Genetic screens will be done to find other mutants resistant to APN, to find suppressors of btn1, and to find mutations that are synthetically lethal with btn1. ..
  14. Studies of Yeast BTN1P and Human CLN3P in Yeast
    David Pearce; Fiscal Year: 2009
    ..Finally we will characterize the pathway of trafficking Btnlp to the vacuole. Further understanding of Btnlp (and ClnSp) in yeast will provide valuable information on the pathogenesis of Batten disease. ..
  15. The role of the TM2-TM3 linker in ethanol modulation of the Glycine Receptor
    MICHELLE DUPRE; Fiscal Year: 2007
    ..Additionally, because glycine shares homology with other cys-loop ion channels, including GABAA, nicotinic acetylcholine, and serotonin-3 receptors, ..
  16. RETINAL CELL MODEL FOR BATTEN DISEASE
    David Pearce; Fiscal Year: 2002
    ....
  17. The Autoimmune Response in Batten Disease
    David Pearce; Fiscal Year: 2006
    ..iv) characterize cell type specific molecular effects that elevated glutamate and exposure to the autoantibody have on primary neuronal culture from cln3-knockout mice. ..
  18. Mediators of C-Fiber Response to Partial Nerve Injury
    Beth Murinson; Fiscal Year: 2007
    ..This research will be conducted during a period of mentored career development emphasizing advanced skills in pain research and the responsible conduct of science. ..
  19. 11th International Congress on Neuronal Ceroid Lipofuscinosis
    David Pearce; Fiscal Year: 2007
    ..The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases. ..
  20. Serum Proteomics for Biomarker Discovery in Batten Disease
    David Pearce; Fiscal Year: 2007
    ..Completion of the proposed studies would likely prove valuable in identification of markers of more complex neurodegenerative diseases ..