nervous system malformations

Summary

Summary: Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.

Top Publications

  1. ncbi Lissencephaly and the molecular basis of neuronal migration
    Mitsuhiro Kato
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 12:R89-96. 2003
  2. ncbi [Congenital malformations of the cerebral brain. 1: Malformations of the cerebral cortex]
    B Ertl-Wagner
    Institut fur Klinische Radiologie, Klinikum der Universitat Munchen, Grosshadern, Munchen
    Radiologe 43:915-24. 2003
  3. ncbi [Pediatric neuroimaging: A domain in full expansion]
    C Adamsbaum
    J Radiol 87:1619. 2006
  4. ncbi Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
    Gillian I Rice
    Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre MAHSC, Manchester, UK
    Lancet Neurol 12:1159-69. 2013
  5. pmc An autoimmune disease prevented by anti-retroviral drugs
    Gabriele B Beck-Engeser
    Department of Microbiology and Immunology, University of California, San Francisco, CA 94143 0414, USA
    Retrovirology 8:91. 2011
  6. pmc Stromal-derived factor-1 (CXCL12) regulates laminar position of Cajal-Retzius cells in normal and dysplastic brains
    Mercedes F Paredes
    Department of Neurosurgery, University of California, San Francisco, California 94143, USA
    J Neurosci 26:9404-12. 2006
  7. ncbi Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia
    Delphine Rocas
    Hospices Civils de Lyon, Service de Genetique, F 69677 Bron, France
    Eur J Med Genet 56:270-3. 2013
  8. ncbi Type I interferonopathies: a novel set of inborn errors of immunity
    Yanick J Crow
    Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, United Kingdom
    Ann N Y Acad Sci 1238:91-8. 2011
  9. pmc Crystal structures of RNase H2 in complex with nucleic acid reveal the mechanism of RNA-DNA junction recognition and cleavage
    Monika P Rychlik
    Laboratory of Protein Structure, International Institute of Molecular and Cell Biology, 4 Trojdena Street, 02 109 Warsaw, Poland
    Mol Cell 40:658-70. 2010
  10. pmc Callosal morphology in Williams syndrome: a new evaluation of shape and thickness
    Eileen Luders
    Laboratory of Neuro Imaging, Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095 7334, USA, and IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy
    Neuroreport 18:203-7. 2007

Research Grants

Detail Information

Publications232 found, 100 shown here

  1. ncbi Lissencephaly and the molecular basis of neuronal migration
    Mitsuhiro Kato
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 12:R89-96. 2003
    ..We also hypothesize, for the first time, a relationship between the specific type of lissencephaly observed and deficiency of specific modes of neuronal migration...
  2. ncbi [Congenital malformations of the cerebral brain. 1: Malformations of the cerebral cortex]
    B Ertl-Wagner
    Institut fur Klinische Radiologie, Klinikum der Universitat Munchen, Grosshadern, Munchen
    Radiologe 43:915-24. 2003
    ..This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development...
  3. ncbi [Pediatric neuroimaging: A domain in full expansion]
    C Adamsbaum
    J Radiol 87:1619. 2006
  4. ncbi Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
    Gillian I Rice
    Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre MAHSC, Manchester, UK
    Lancet Neurol 12:1159-69. 2013
    ..The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials...
  5. pmc An autoimmune disease prevented by anti-retroviral drugs
    Gabriele B Beck-Engeser
    Department of Microbiology and Immunology, University of California, San Francisco, CA 94143 0414, USA
    Retrovirology 8:91. 2011
    ..However, inhibition of reverse transcription by the inhibitor zidovudine (AZT) did not ameliorate the disease, weakening the link to retroelements...
  6. pmc Stromal-derived factor-1 (CXCL12) regulates laminar position of Cajal-Retzius cells in normal and dysplastic brains
    Mercedes F Paredes
    Department of Neurosurgery, University of California, San Francisco, California 94143, USA
    J Neurosci 26:9404-12. 2006
    ....
  7. ncbi Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia
    Delphine Rocas
    Hospices Civils de Lyon, Service de Genetique, F 69677 Bron, France
    Eur J Med Genet 56:270-3. 2013
    ..This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus...
  8. ncbi Type I interferonopathies: a novel set of inborn errors of immunity
    Yanick J Crow
    Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, United Kingdom
    Ann N Y Acad Sci 1238:91-8. 2011
    ....
  9. pmc Crystal structures of RNase H2 in complex with nucleic acid reveal the mechanism of RNA-DNA junction recognition and cleavage
    Monika P Rychlik
    Laboratory of Protein Structure, International Institute of Molecular and Cell Biology, 4 Trojdena Street, 02 109 Warsaw, Poland
    Mol Cell 40:658-70. 2010
    ..Junction recognition is important for the removal of RNA embedded in DNA and may play an important role in DNA replication and repair...
  10. pmc Callosal morphology in Williams syndrome: a new evaluation of shape and thickness
    Eileen Luders
    Laboratory of Neuro Imaging, Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095 7334, USA, and IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy
    Neuroreport 18:203-7. 2007
    ..Circumscribed structural alterations in callosal morphology might be candidate anatomic substrates for the unique cognitive and behavioral profile associated with Williams syndrome...
  11. pmc Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression
    Holger Thiele
    Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany
    Hum Mutat 31:E1836-50. 2010
    ..The observed vascular changes most likely reflect a vasculitis caused by dysregulated inflammatory stress response...
  12. ncbi Impaired detection of variable duration embedded tones in ectopic NZB/BINJ mice
    A M Peiffer
    Department of Psychology, Behavioral Neuroscience Division, University of Connecticut, 3107 Horse Barn Hill Rd. Unit 4154, Storrs, CT 06269-4154, USA
    Neuroreport 12:2875-9. 2001
    ..The current results add further support to the association between focal cortical malformations and impaired auditory processing, and the notion that these auditory effects may occur regardless of the cortical location of the anomaly...
  13. ncbi Cognitive functioning in humans with mutations of the PAX6 gene
    P J Thompson
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK
    Neurology 62:1216-8. 2004
    ....
  14. ncbi A developmental and genetic classification for malformations of cortical development
    A J Barkovich
    Department of Radiology, University of California, San Francisco, CA, USA
    Neurology 65:1873-87. 2005
    ..This classification allows a better conceptual understanding of the disorders, and the use of neuroimaging characteristics allows it to be applied to all patients without necessitating brain biopsy, as in pathology-based classifications...
  15. ncbi Doublecortin is required in mice for lamination of the hippocampus but not the neocortex
    Joseph C Corbo
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 22:7548-57. 2002
    ..Behavioral tests show defects in context and cued conditioned fear tests, suggesting that deficits in hippocampal learning accompany the abnormal cytoarchitecture...
  16. pmc Therapies in Aicardi-Goutières syndrome
    Y J Crow
    Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK St Mary s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
    Clin Exp Immunol 175:1-8. 2014
    ..We then discuss the pathogenesis of AGS from a molecular and cell biology perspective. Finally, we suggest possible treatment strategies in light of these emerging insights...
  17. ncbi Malformations of cortical development with balloon cells: clinical and radiologic correlates
    M T Mackay
    Royal Children s Hospital, Victoria, Australia
    Neurology 60:580-7. 2003
    ..The authors compare the clinical and MRI characteristics in children with medically refractory localization-related epilepsy who were found to have balloon cells on histology after cortical resections...
  18. pmc Bilateral subcortical heterotopia with partial callosal agenesis in a mouse mutant
    G D Rosen
    Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
    Cereb Cortex 23:859-72. 2013
    ..The discovery of a novel mutation with strong pleiotropic anatomical and behavioral effects provides an important new resource for dissecting molecular mechanisms and functional consequences of errors of neuronal migration...
  19. ncbi De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype
    Emilia Cirillo
    Department of Pediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 158:2571-6. 2012
    ..After 12 years of age only a mild dysmetria persisted, while the proliferative response to mitogens became normal by 9 years of age...
  20. ncbi PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
    S M Sisodiya
    Epilepsy Research Group, University Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Nat Genet 28:214-6. 2001
    ....
  21. ncbi Terminology and classification of the cortical dysplasias
    A Palmini
    Pontificia Universidade Catolica do Rio Grande do Sul, Porto Alegre, Brazil
    Neurology 62:S2-8. 2004
    ..There have been difficulties in achieving a uniform terminology in the literature regarding issues of classification with respect to focal cortical dysplasias (FCDs) associated with epilepsy...
  22. ncbi Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations
    M E Ross
    Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA
    Neuropediatrics 32:256-63. 2001
    ....
  23. ncbi Fetal central nervous system malformations on MR images
    Izabela Herman-Sucharska
    MRI Unit, Radiology Department of Collegium Medicum of Jagiellonian University, Kopernika Street, 19 Kraków, Poland
    Brain Dev 31:185-99. 2009
    ..The authors describe the most common anomalies of CNS revealed by fetal MRI in a chronological way related to the age of pregnancy, with a review of own MR images and with reference to the literature and own experience...
  24. ncbi Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature
    M Rossi
    Clinical Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, University College London, London, UK
    Neuropediatrics 34:287-92. 2003
    ....
  25. pmc NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
    Weining Lu
    Genetics Division, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 3:e80. 2007
    ....
  26. ncbi Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation
    B S Chang
    Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
    Neurology 62:1722-8. 2004
    ..The authors describe a new syndrome they have termed "bilateral generalized polymicrogyria" (BGP), in which the malformation occurs in a generalized distribution but is often most severe in the perisylvian regions...
  27. ncbi Inhibition of SRC family kinases and non-classical protein kinases C induce a reeler-like malformation of cortical plate development
    Yves Jossin
    University of Louvain Medical School, Developmental Genetics Unit, GEDE 7382, B1200 Brussels, Belgium
    J Neurosci 23:9953-9. 2003
    ..Our observations demonstrate a key role for these enzymes in radial migration to the cortical plate, possibly via interference with Reelin signaling...
  28. ncbi Cochlear implantation in pontine tegmental cap dysplasia
    Andrea Bacciu
    Department of Otolaryngology, University of Parma, Via Gramsci 14, 43100 Parma, Italy
    Int J Pediatr Otorhinolaryngol 74:962-6. 2010
    ..Cochlear implantation allowed this child to improve her quality of life, increasing her self-confidence, independence, and social integration...
  29. ncbi Influence of the embryonic preplate on the organization of the cerebral cortex: a targeted ablation model
    Y Xie
    Developmental and Molecular Neuroscience Group, Neuropsychiatric Institute, University of California at Los Angeles, School of Medicine, Los Angeles, California 90024 1759, USA
    J Neurosci 22:8981-91. 2002
    ....
  30. ncbi Multiple dose-dependent effects of Lis1 on cerebral cortical development
    Michael J Gambello
    Department of Pediatrics and Medicine, University of California, San Diego, La Jolla, California 92093 0627, USA
    J Neurosci 23:1719-29. 2003
    ..These studies reveal the importance of LIS1 levels in orderly cerebral cortical morphogenesis and suggest new insights into the pathogenesis of type I lissencephaly...
  31. ncbi Focal cortical dysplasias: MR imaging, histopathologic, and clinical correlations in surgically treated patients with epilepsy
    Nadia Colombo
    Department of Neuroradiology, Ospedale Ca Granda Niguarda, Milano, Italy
    AJNR Am J Neuroradiol 24:724-33. 2003
    ..The aim of this study was to identify the MR features of histologic subtypes of FCD that would be useful for differential diagnosis...
  32. ncbi A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascin
    Krishnakumar Kizhatil
    Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, North Carolina 27710, USA
    J Neurosci 22:7948-58. 2002
    ..The finding that doublecortin associates with FIGQY-phosphorylated neurofascin provides the first connection of doublecortin with the plasma membrane and could be important for a function of doublecortin in directing neuronal migration...
  33. ncbi Pathfinding errors of corticospinal axons in neural cell adhesion molecule-deficient mice
    Bettina Rolf
    Zentrum für Molekulare Neurobiologie, Universitat Hamburg, D 20246 Hamburg, Germany
    J Neurosci 22:8357-62. 2002
    ..Our observations thus demonstrate a critical role of NCAM for the formation of this major axon tract...
  34. ncbi L1-associated diseases: clinical geneticists divide, molecular geneticists unite
    E Fransen
    Department of Medical Genetics, University of Antwerp, Belgium
    Hum Mol Genet 6:1625-32. 1997
    ..The main clinical features of this spectrum are Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus, which has led to the acronym CRASH syndrome...
  35. ncbi Developmental timeframes for induction of microgyria and rapid auditory processing deficits in the rat
    Steven W Threlkeld
    Department of Psychology, Behavioral Neuroscience Division, University of Connecticut, 806 Babbidge Road, Storrs, CT 06269 4154, USA
    Brain Res 1109:22-31. 2006
    ....
  36. pmc Genetics of the polymicrogyria syndromes
    A Jansen
    Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
    J Med Genet 42:369-78. 2005
    ....
  37. ncbi Sex differences in rapid auditory processing deficits in ectopic BXSB/MpJ mice
    Ann M Peiffer
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, USA
    Neuroreport 13:2277-80. 2002
    ....
  38. ncbi Human wild-type tau interacts with wingless pathway components and produces neurofibrillary pathology in Drosophila
    George R Jackson
    Neurogenetics Program, Department of Neurology, University of California Los Angeles, School of Medicine, 710 Westwood Plaza, 90095, USA
    Neuron 34:509-19. 2002
    ..The genetic system we have established provides a powerful reagent for identification of novel modifiers of tau-induced neurodegeneration that may serve as future therapeutic targets...
  39. ncbi Genetic malformations of the cerebral cortex and epilepsy
    Renzo Guerrini
    Epilepsy, Neurophysiology and Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa and Research Institute Stella Maris Foundation, Pisa, Italy
    Epilepsia 46:32-7. 2005
    ..2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2-21...
  40. ncbi Activity of adenosine deaminase in mothers who have conceived a fetus with central nervous system malformations
    Yaprak Engin-Ustun
    Department of Obstetrics and Gynecology, School of Medicine, Inonu University, Malatya, Turkey
    J Perinat Med 35:399-402. 2007
    ..To establish the adenosine deaminase (ADA) activity in women who had been pregnant with a child suffering from central nervous system (CNS) anomaly...
  41. ncbi Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome
    R Guerrini
    Division of Neurology, King s College, University of London, UK
    Neurology 54:909-13. 2000
    ..We describe 13 patients with symmetric polymicrogyria of both frontal lobes back to the precentral sulcus: bilateral frontal polymicrogyria (BFP)...
  42. ncbi LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
    D T Pilz
    Department of Human Genetics, University of Chicago, 924 East 57th Street, R113, Chicago, IL 60637, USA
    Hum Mol Genet 7:2029-37. 1998
    ..The distinct LIS patterns suggest that LIS1 and XLIS may be part of overlapping, but distinct, signaling pathways that promote neuronal migration...
  43. ncbi Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
    F Sicca
    Division of Child Neurology and Psychiatry, University of Pisa, Italy
    Neurology 61:1042-6. 2003
    ..The authors identified mosaic mutations of LIS1 in two patients (Patients 1 and 2) with predominantly posterior SBH...
  44. ncbi Disregulated RhoGTPases and actin cytoskeleton contribute to the migration defect in Lis1-deficient neurons
    Stanislav S Kholmanskikh
    Department of Neurology, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Neurosci 23:8673-81. 2003
    ..This effect of Lis1 on GTPases does not appear to occur through direct Lis1 binding of Rho, but could involve Lis1 effects on Rho modulatory proteins or on microtubule dynamics...
  45. pmc Brain weight differences associated with induced focal microgyria
    Ann M Peiffer
    Department of Psychology Behavioral Neuroscience Division, University of Connecticut, USA
    BMC Neurosci 4:12. 2003
    ..In this experiment, we investigated changes in brain weight as an index of global disruption of neural systems caused by focal damage to the developing cortical plate...
  46. ncbi Congenital anomalies in children with cerebral palsy: a population-based record linkage study
    Judith Rankin
    Institute of Health and Society, Newcastle University, Newcastle upon Tyne, UK
    Dev Med Child Neurol 52:345-51. 2010
    ....
  47. ncbi Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies
    E H Sherr
    Department of Neurology, University of California, San Francisco, CA 94143 0748, USA
    Neurology 65:1496-8. 2005
    ..Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations...
  48. ncbi High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations
    Roxana Kariminejad
    Kariminejad Najmabadi Pathology and Genetics Center, Tehran, Iran
    Hum Mutat 32:1427-35. 2011
    ....
  49. pmc A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia
    Vincent Procaccio
    Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697, USA
    Am J Hum Genet 78:947-60. 2006
    ..These findings suggest that mutations in nonmuscle actins may be associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia...
  50. ncbi Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia
    B S Chang
    Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA
    Neurology 64:799-803. 2005
    ....
  51. ncbi Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature
    Beate Winner
    Department of Neurology, University of Regensburg, Regensburg, Germany
    Clin Neurol Neurosurg 108:692-8. 2006
    ..Thin CC and peripheral neuropathy often appear together in spastic paraplegia and might be indicative for combined degeneration mechanism of central and peripheral axons...
  52. ncbi Delayed response of seizures with vagus nerve stimulation in Lennox-Gastaut syndrome
    S Buoni
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy
    Neurology 63:1539-40. 2004
  53. ncbi Imaging of early brain injury and cortical plasticity
    Ingeborg Krageloh-Mann
    Department of Paediatric and Developmental Neurology, University Children s Hospital Tubingen, 72076 Tubingen, Germany
    Exp Neurol 190:S84-90. 2004
    ..The visual system seems to have limited compensatory potential...
  54. ncbi Expression and cellular distribution of high- and low-affinity neurotrophin receptors in malformations of cortical development
    Eleonora Aronica
    Department of Neuro Pathology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Acta Neuropathol 108:422-34. 2004
    ..Further research is necessary to investigate how activation of these specific receptors could contribute to the development and the epileptogenicity of these developmental disorders...
  55. ncbi Surgical treatment of temporoparietooccipital cortical dysplasia in infants: report of two cases
    Roy Thomas Daniel
    Department of Neurosurgery, Centre Hospitalier Universitaire Vauduois, Lausanne, Switzerland
    Epilepsia 45:872-6. 2004
    ..Experience with surgical treatment of these lesions is limited, often not very encouraging, and holds a higher operative risk when compared with that in older children and adults...
  56. ncbi Expression of neural stem cell surface marker CD133 in balloon cells of human focal cortical dysplasia
    Zhong Ying
    Department of Neurology, The Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Epilepsia 46:1716-23. 2005
    ..A few patients with CD have balloon cells intermixed with dysmorphic neurons. The cellular characteristics of balloon cells remain unknown. This study was intended to determine further the cellular characteristics of balloon cells...
  57. ncbi Functional imaging of the double cortex
    Richard Wennberg
    Division of Neurology, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada
    Can J Neurol Sci 31:254-6. 2004
  58. ncbi [Schizencephaly--clinical and radiological presentation of pediatric patients]
    Ilona Kopyta
    Z Katedry i Kliniki Pediatrii i Neurologii Wieku Rozwojowego Slaskiej Akademii Medycznej, Katowice
    Wiad Lek 59:471-6. 2006
    ..The aim of the study was the analysis of clinical presentation, neurodevelopment progress and seizures in children with schizencephaly...
  59. ncbi Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations
    Fabienne Giuliano
    Unite de Genetique Medicale, hopital l Archet II, Nice, France
    Am J Med Genet A 126:99-103. 2004
    ..The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy...
  60. ncbi POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG
    D S Kim
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Tokyo, Japan
    Neurology 62:1009-11. 2004
    ..Their patient expressed alpha-dystroglycan (alpha-DG) core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with the loss of laminin-binding activity...
  61. ncbi Surgery for focal cortical dysplasia
    William E Bingaman
    Department of Neurosurgery, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Neurology 62:S30-4. 2004
  62. ncbi Hemispheric malformations of cortical development
    Ajay Gupta
    Department of Neurology, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Neurology 62:S20-6. 2004
    ..In this article, the authors discuss the developmental and genetic mechanisms, pathologic features, diagnosis, and treatment of hemispheric MCD that are substrates of catastrophic childhood epilepsy amenable to surgical treatment...
  63. ncbi Focal malformations of cortical development
    N Foldvary-Schaefer
    Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Neurology 62:S14-9. 2004
  64. ncbi [MR imaging in congenital disorders of the brain]
    B Ertl-Wagner
    Institut fur Klinische Radiologie, Campus Grosshadern, Ludwig Maximilians Universitat, Marchioninistrasse 15, 81377 Munich
    Nervenarzt 77:1521-35; quiz 1536. 2006
    ..Chiari malformation ans disorders on the Dandy-Walker spectrum are relatively common, primarily infratentorial disorders. Rarer infratentorial disorders are Joubert syndrome, rhombencephalosynapsis and Lhermitte Duclos syndrome...
  65. ncbi Mcm2 labelling of balloon cells in focal cortical dysplasia
    M Thom
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, London, UK
    Neuropathol Appl Neurobiol 31:580-8. 2005
    ..Furthermore, as Mcm2 specifically identifies BC populations, this marker may be of diagnostic value in the subtyping of FCD lesions in patients with epilepsy...
  66. ncbi A case of congenital bilateral perisylvian syndrome due to bilateral schizencephaly
    K Puthenveettil Vinayan
    National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Aoi ku, Shizuoka, Japan
    Epileptic Disord 9:190-3. 2007
    ..We hypothesize that the minimal loss of cortical tissue, along with the possible sparing of vital white matter association fibers and neuronal plasticity might have contributed to the better functional outcome in this patient...
  67. ncbi Electroclinical and magnetoencephalographic studies in epilepsy patients with polymicrogyria
    Jorge G Burneo
    Epilepsy Programme, London Health Sciences Center, University of Western Ontario, 339 Windermere Road, London, Ontario, Canada N6A 5A5
    Epilepsy Res 62:125-33. 2004
    ..The present descriptive study analysis the electroclinical and magnetoencephalographic findings of patients with epilepsy and polymicrogyria without schizencephaly...
  68. ncbi Congenital perisylvian syndrome: MRI and glucose PET correlations
    Aimee F Luat
    The Carman and Ann Adams Department of Pediatrics, Childrens Hospital of Michigan, Wayne State University, Detroit, Michigan 48201, USA
    Pediatr Neurol 35:21-9. 2006
    ....
  69. ncbi Are cytomegalic neurons and balloon cells generators of epileptic activity in pediatric cortical dysplasia?
    Carlos Cepeda
    Mental Retardation Research Center, David Geffen School of Medicine, University of California Los Angeles, California 90024, USA
    Epilepsia 46:82-8. 2005
    ..These aberrant cells could participate in the generation of epileptic activity. The aim of this study was to morphologically and electrophysiologically characterize cells in pediatric CD tissue...
  70. ncbi Adult-onset epilepsy in focal cortical dysplasia of Taylor type
    A M Siegel
    Epilepsy Program, Department of Neurology, University of Zurich, Switzerland
    Neurology 64:1771-4. 2005
    ..In 21 patients (10%), age at seizure onset ranged from 18 to 55 years (mean 25.3). The outcome of seizures in patients with FCDT and adult-onset epilepsy seems favorable vs childhood-onset seizures...
  71. ncbi Imaging the developing epileptic brain
    P Ellen Grant
    Massachusetts General Hospital, Department of Neuroradiology, Boston, Massachusetts 02114, USA
    Epilepsia 46:7-14. 2005
    ..This article presents a brief comparison of imaging techniques currently in use, both clinically and experimentally, to diagnose, treat, and increase our understanding of the neuropathology of epilepsy in the developing brain...
  72. ncbi Pediatric cortical dysplasia: correlations between neuroimaging, electrophysiology and location of cytomegalic neurons and balloon cells and glutamate/GABA synaptic circuits
    C Cepeda
    Division of Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
    Dev Neurosci 27:59-76. 2005
    ....
  73. ncbi Perisylvian polymicrogyria in Landau-Kleffner syndrome
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Gottingen, Germany
    Neurology 64:1660. 2005
  74. ncbi Cochlear implantation in a patient with Perisylvian syndrome
    Wendy Smith
    The Emmeline Centre, Cambridge, UK
    Cochlear Implants Int 8:117-21. 2007
    ..The method to determine whether the hearing loss is of cochlear or central origin and the progress of a child with Perisylvian syndrome who received a cochlear implant is discussed...
  75. ncbi Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children
    M Henneke
    Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany
    Neurology 64:1411-6. 2005
    ..To describe a distinctive syndrome of nonprogressive encephalopathy, normo- or microcephaly, and early onset of severe psychomotor impairment in 15 white patients, including two siblings and two first cousins...
  76. ncbi Intrinsic epileptogenicity in polymicrogyric cortex suggested by EEG-fMRI BOLD responses
    E Kobayashi
    Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada
    Neurology 64:1263-6. 2005
    ..Sixteen of 18 studies showed responses, with maximum activation involving the lesion in 61.5%, but often limited to a small fraction of that lesion, suggesting intrinsic epileptogenicity in small areas of the PMG cortex...
  77. ncbi Cortical/subcortical BOLD changes associated with epileptic discharges: an EEG-fMRI study at 3 T
    Paolo Federico
    Brain Research Institute, Heidelberg West, Victoria, Australia
    Neurology 64:1125-30. 2005
    ..Interictal discharges in malformations of cortical development were studied with EEG-fMRI...
  78. ncbi A multilayered approach to studying cortical malformations: EEG-fMRI
    John A Detre
    Neurology 64:1108-10. 2005
  79. ncbi Clinical outcomes after corpus callosotomy in patients with bihemispheric malformations of cortical development
    Kensuke Kawai
    Department of Neurosurgery, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan
    J Neurosurg 101:7-15. 2004
    ..Corpus callosotomy has been advocated as a treatment option, but the results have been reported only in several case reports. The authors describe a series of 10 patients with bihemispheric MCDs who underwent total corpus callosotomy...
  80. pmc Pten regulates neuronal arborization and social interaction in mice
    Chang Hyuk Kwon
    Kent Waldrep Foundation Center for Basic Neuroscience Research on Nerve Growth and Regeneration, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    Neuron 50:377-88. 2006
    ..Thus, our data suggest that abnormal activation of the PI3K/AKT pathway in specific neuronal populations can underlie macrocephaly and behavioral abnormalities reminiscent of certain features of human ASD...
  81. ncbi A familial syndrome of unilateral polymicrogyria affecting the right hemisphere
    B S Chang
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
    Neurology 66:133-5. 2006
    ..Core clinical features included contralateral hemiparesis, developmental delay, and focal seizures. The authors' findings suggest that unilateral PMG exists in a familial syndrome of probable germline genetic origin...
  82. ncbi Site-specific dephosphorylation of doublecortin (DCX) by protein phosphatase 1 (PP1)
    Anat Shmueli
    Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel
    Mol Cell Neurosci 32:15-26. 2006
    ....
  83. ncbi Advanced MR imaging of cortical dysplasia with or without neoplasm: a report of two cases
    Jay J Pillai
    Department of Radiology, The Medical College of Georgia, Augusta, GA 30912, USA
    AJNR Am J Neuroradiol 23:1686-91. 2002
    ....
  84. ncbi Cortical periventricular heterotopia with ectodermal dysplasia
    R Zannolli
    Am J Med Genet 113:385-9. 2002
  85. ncbi Expression and cell distribution of group I and group II metabotropic glutamate receptor subtypes in taylor-type focal cortical dysplasia
    Eleonora Aronica
    Department of Neuro Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Epilepsia 44:785-95. 2003
    ..Because recent studies indicate that metabotropic glutamate receptor subtypes (mGluRs) play a role in epileptogenesis, we investigated the expression and cellular distribution pattern of mGluRs in FCD specimens...
  86. ncbi Increase in reelin-positive cells in the marginal zone of Pax6 mutant mouse cortex
    A Stoykova
    Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, D 37077 Gottingen, Germany
    Cereb Cortex 13:560-71. 2003
    ..Taken together, these experiments further elucidate how patterning of the forebrain by the transcription factor Pax6 regulates the specification of distinct neuronal subtypes in the cortical MZ...
  87. ncbi Characteristics of prolonged afterdischarges in children with malformations of cortical development
    Shiro Chitoku
    Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON
    J Child Neurol 18:247-53. 2003
    ..Remote afterdischarges over focal dysplastic cortex suggest aberrant cortical excitability and neural circuits...
  88. ncbi Malformations of cortical development and epilepsy: evaluation of 101 cases (part II)
    Serdal Gungor
    Department of Pediatrics, Inonu University, Faculty of Medicine, Malatya, Turkey
    Turk J Pediatr 49:131-40. 2007
    ..In conclusion, epilepsy is the most common problem in MCD. Epilepsy and EEG findings of patients with MCD are variable and seem to be correlated with the extent of cortical involvement...
  89. ncbi Callosal anomalies in patients with spinal dysraphism: correlation of clinical and neuroimaging features with hemispheric abnormalities
    Tadao Kawamura
    Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Neurol Res 24:463-7. 2002
    ..Spinal dysraphism can no longer be considered a single developmental abnormality, given the frequent association of other defects...
  90. ncbi Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development
    Maria Augusta Montenegro
    Department of Neurology, University of Campinas, PO Box 6111, 13083 970 Campinas, Sao Paulo, Brazil
    Arch Neurol 59:1147-53. 2002
    ..There are several lines of evidence supporting the theory of a complex mechanism that involves genetic and environmental factors...
  91. ncbi Alternative transcripts of Dclk1 and Dclk2 and their expression in doublecortin knockout mice
    Françoise Phan Dinh Tuy
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
    Dev Neurosci 30:171-86. 2008
    ..These results, in addition to characterizing the transcript diversity of an important family of genes, should facilitate further studies of compensation in Dcx-deficient mice...
  92. ncbi Role of intermediate progenitor cells in cerebral cortex development
    Adria Pontious
    Department of Pathology, University of Washington, Seattle, WA, USA
    Dev Neurosci 30:24-32. 2008
    ..We propose that regulation of IPC genesis and amplification across developmental stages and regional subdivisions modulates laminar neurogenesis and contributes to the cytoarchitectonic differentiation of cortical areas...
  93. pmc Patterns of hippocampal abnormalities in malformations of cortical development
    M A Montenegro
    Department of Neurology, University of Campinas FCM Unicamp, Campinas, SP, Brazil
    J Neurol Neurosurg Psychiatry 77:367-71. 2006
    ..To assess whether different types of malformation of cortical development (MCD) are associated with specific patterns of hippocampal abnormalities...
  94. ncbi Epileptic and imaging findings in perinatal hypoxic-ischemic encephalopathy with ulegyria
    Flavio Villani
    Istituto Nazionale Neurologico, Via Celoria 11, Milan, Italy
    Epilepsy Res 55:235-43. 2003
    ..Drug refractoriness was an almost constant correlate of this form of symptomatic epilepsy...
  95. ncbi Segmentation of focal cortical dysplasia lesions using a feature-based level set
    O Colliot
    Montreal Neurological Institute, McGill University, Montreal, Canada
    Med Image Comput Comput Assist Interv 8:375-82. 2005
    ..This new approach may become a useful tool for the presurgical evaluation of patients with intractable epilepsy...
  96. ncbi MRI and in situ hybridization reveal early disturbances in brain size and gene expression in the megencephalic (mceph/mceph) mouse
    Margarita Diez
    Department of Neuroscience, Karolinska Institutet, S 171 77 Stockholm, Sweden
    Eur J Neurosci 18:3218-30. 2003
    ..These results provide an objective description of the size changes in different brain regions of the mceph/mceph mouse, and suggest that certain molecules could be involved in the early processes underlying these changes...
  97. ncbi Transcription of intermediate filament genes is enhanced in focal cortical dysplasia
    J P Taylor
    Department of Neurology, University of Pennsylvania Medical Center, Philadelphia 19104, USA
    Acta Neuropathol 102:141-8. 2001
    ....
  98. ncbi Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges
    Giorgio Battaglia
    Division of Experimental Neurophysiology and Epileptology, Neurological Institute C Besta, Milan, Italy
    Epilepsia 47:86-97. 2006
    ....
  99. ncbi Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females
    Maria Daniela D'Agostino
    Department of Neurology and Neurosurgery, and the Montreal Neurological Institute and Hospital, Quebec, Canada
    Brain 125:2507-22. 2002
    ..This suggests other genetic mechanisms such as mutations in the non-coding regions of the DCX or LIS1 genes, gonadal or somatic mosaicism, and finally mutations of other genes...
  100. ncbi In vivo profiling of focal cortical dysplasia on high-resolution MRI with computational models
    Olivier Colliot
    Department of Neurology and Neurosurgery and McConnell Brain Imaging Center, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada
    Epilepsia 47:134-42. 2006
    ..Our purpose was to investigate the pattern of occurrence of abnormal MRI characteristics in FCD by using a set of computational models and to generate quantitative lesion profiling...
  101. ncbi [Cortical malformations and epilepsy: Role of MR imaging]
    J P Cottier
    Service de Neuroradiologie, Hopital Bretonneau, CHRU, 2 boulevard Tonnelle, 37044 Tours Cedex
    J Radiol 87:1621-34. 2006
    ..An adequate classification of these malformations should help to provide to the family an appropriate counseling both in terms of genetics and outcome...

Research Grants62

  1. Fetal Ethanol Effects on the Peripheral Nervous System
    Mary Johnson; Fiscal Year: 2004
    ..Our long term goal is to study the mechanism by which ethanol acts on the PNS, what components are adversely affected and what approaches may ameliorate these effects. ..
  2. Role of Intronic Variants Affecting Splicing in Juvenile Myoclonic Epilepsy
    Debra J Wolgemuth; Fiscal Year: 2010
    ..in developing and adult brain, and recently, that Brd2-null embryos die at mid-gestation with central nervous system malformations. Further, our preliminary data show that heterozygous Brd2 mice exhibit a reduction in the number of ..
  3. LAMININS AND GLOMERULAR FILTRATION
    Jeffrey H Miner; Fiscal Year: 2013
    ..The results of these studies will provide important new insights into laminin and basement membrane biology and lead to potential therapies for human glomerular disease involving GBM defects. ..
  4. BIOMEDICAL (BASIC)
    ALFED CHEUNG; Fiscal Year: 2009
    ..The CCN will utilize the established Alzheimer's disease Neuroimaging Initiative (ADNI) network for efficient, uniform and high-quality brain MRI in SPRINT. ..
  5. Inflammation, Cardiac Sympathetic Innervation and Arrhythmic Sudden Death
    RICHARD THOMAS GEORGE; Fiscal Year: 2012
    ....
  6. A Model of Stem Cell-Based Treatment of HIV-Related Neurological Disease
    Walter Royal; Fiscal Year: 2011
    ....
  7. Neurobehavioral Deficits in HIV/HCV Infection Pre/Post Anti-HCV Therapy
    Charles H Hinkin; Fiscal Year: 2012
    ..Of particular interest is how HIV co-infection affects response to treatment. ..
  8. Determinants of GPCR Ciliary Localization and Effects on Signaling
    KIRK A MYKYTYN; Fiscal Year: 2012
    ..abstract_text> ..
  9. TRANSCRIPTIONAL REGULATION BY GEMININ
    Kristen L Kroll; Fiscal Year: 2013
    ..in early embryonic lethality in mice, while Zic1-4 mutations in humans cause a range of embryonic and nervous system malformations and neurological disorders...
  10. BIOMEDICAL (BASIC)
    David C Goff; Fiscal Year: 2009
    ..Diagnosis of probable dementia: To screen all 7,500 participants annually for probable dementia. The objective of this proposal is to create a clinical network to recruit 1,700 SPRINT participants. ..
  11. BIOMEDICAL (BASIC)
    Jackson Wright; Fiscal Year: 2009
    ....
  12. SPRINT
    Suzanne Oparil; Fiscal Year: 2009
    ..abstract_text> ..
  13. INFORMATION CHANNELS IN THE VESTIBULAR NERVE
    ELLENGENE PETERSON; Fiscal Year: 2000
    ..Third, it will help us understand how head and neck reflexes are coordinated to achieve postural and visual stability in the world of constant motion. ..
  14. TRISOMY 16 AND NGF--EFFECTS ON CNS GENE EXPRESSION
    David Holtzman; Fiscal Year: 1993
    ..Studies of gene expression in the mouse model for DS may give fresh insights into the molecular pathogenesis of both AD and DS...
  15. MOLECULAR ANALYSIS OF ETHANOL-INDUCED OROFACIAL DEFECTS
    M Pisano; Fiscal Year: 1993
    ....
  16. HYPERTENSION, COGNITION, AND THE BRAIN IN OLDER ADULTS
    SHARI WALDSTEIN; Fiscal Year: 2002
    ..Understanding the pathogenesis of hypertension-related cognitive impairment in older adults may lead to enhanced efforts in prevention, and intervention to reduce cerebrovascular risk and improve quality of life. ..
  17. FUNCTIONAL ANALYSIS OF CANDIDATE GENES FOR MLS SYNDROME
    Ignatia Van den Veyver; Fiscal Year: 2001
    ..characterized by linear skin defects on head and neck, microphthalmia, retinal lesions, central nervous system malformations including agenesis of the corpus callosum, seizures, mental retardation and cardiac defects...
  18. SENSORY AND SYMPATHETIC EFFECTS ON INTERSTITIAL CYSTITIS
    CHARLES BUFFINGTON; Fiscal Year: 2001
    ....
  19. Posttraumatic Stress Disorder and Cardiovascular Disease
    Viola Vaccarino; Fiscal Year: 2007
    ..Efforts toward the prevention, early identification and treatment of PTSD and the identification of factors that mediate its adverse effects could reduce morbidity and mortality from CVD. ..
  20. Complement evasion by Borrelia burgdorferi
    Darrin Akins; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  21. Dissecting G protein signals at specific neural circuits
    Kimberly Scearce Levie; Fiscal Year: 2007
    ..The mentoring and training received during this project will help the candidate achieve her career goal of an independent faculty research position. ..
  22. Functional Architecture of Developmental Brain Disorder
    Bernard Chang; Fiscal Year: 2008
    ..By combining training in these two areas, the candidate will gain the experience and skills necessary to transition to an independent career in clinical neuroscience research. [unreadable] [unreadable]..
  23. Regulation of Laminar Fate in Cerebral Cortex
    Robert Hevner; Fiscal Year: 2006
    ..If molecular fates are aEered in heterochronic or Rein mutant cortex, this would suggest that certain aspects of laminar fate can be regulated post-mitotically. ..
  24. SYNAPTIC PLASTICITY IN HIPPOCAMPAL EPILEPTOGENESIS
    Gary Clark; Fiscal Year: 2002
    ..Experiments are proposed to ascertain the role of these signal transduction mechanisms in the enhanced release of excitatory transmitter by PAF receptor activation. ..
  25. EPILEPTOGENESIS IN THE AGED CNS
    Peter Patrylo; Fiscal Year: 2002
    ..Thus, by examining synaptic reorganization within the aged CNS they may also provide insight into the basic mechanisms of epilepsy and learning and memory within the overall population. ..
  26. Synapase Modification /Memory Retention /Life Span Model
    Peter Patrylo; Fiscal Year: 2002
    ..abstract_text> ..
  27. Human Perinatal Brain Injury and Outcome: MRI Assessemnt
    PATRICIA GRANT; Fiscal Year: 2006
    ..The project is expected to only help the candidate establish an independent research career and to contribute to an understanding of perinatal brain injury. ..
  28. Peripheral and Central Mechanism of Pain in Patients with Fibromyalgia
    ROLAND M STAUD; Fiscal Year: 2010
    ..Either way, we will provide evidence that will characterize the role of local anesthesia, placebo analgesia, or both. Thus patients with FM and other similar pain syndromes may strongly benefit from the results of our study. ..
  29. DEVELOPMENTAL PATHOGENESIS OF HUMAN CORTICAL DYSPLASIA
    Peter Crino; Fiscal Year: 2003
    ..Furthermore, in identifying alterations in specific genes, the relationship between FCD and mental disorders can be rendered. These analyses may point toward new avenues for therapy. ..
  30. Generation of Genetically Attenuated Rickettsiae
    Abdu Azad; Fiscal Year: 2009
    ..The underlying hypothesis tested is whether recombinant strains with altered genes maintain their immunogenicity within mammals and provide cross protection to subsequent challenge with virulent strains. ..
  31. Mechanisms of Radiation-Induced Cognitive Dysfunction
    William Brown; Fiscal Year: 2008
    ..Such therapeutic intervention studies could potentially be performed in as little as 10 weeks. ..
  32. HOMOCYSTEINE AND CONGENITAL HEART DEFECTS
    Thomas Rosenquist; Fiscal Year: 2003
    ..abstract_text> ..
  33. 12th International Workshop on Ataxia-Telangiectasia and ATM
    Richard Gatti; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  34. ION CHANNEL REGULATION BY THE CYTOPLASMIC TAIL OF PDK1
    Seth Alper; Fiscal Year: 2005
    ..We will search for novel interacting proteins, and prepare protein suitable for structural analysis. ..
  35. Sickle Red Cell K+ Transporter Genetics in S. cerevisiae
    Seth Alper; Fiscal Year: 2002
    ..3) (Provisional Aim): Time permitting, to improve, validate, and standardize growth rescue of trk1delta/trk2delta S. cerevisiae by expression in nonpermissive conditions of cDNA encoding the mammalian IK1 K(ca) channel. ..
  36. Integrated multidisciplinary approach for analyzing diffuse myelination disorders
    Margot Mayer Proschel; Fiscal Year: 2010
    ..abstract_text> ..
  37. INDUCTION OF APOPTOSIS BY HIV-1 VPR
    Vicente Planelles; Fiscal Year: 2010
    ..We also hypothesize that ATR activation by Vpr, when allowed, will result in enhanced rate of viral replication. ..
  38. FUNCTIONAL ANALYSIS OF NF2 GENE MUTATIONS
    David Gutmann; Fiscal Year: 2003
    ..Our ability to design rational therapies for schwannomas and meningiomas is dependent on an improved understanding of the mechanisms by which loss of merlin expression and function promotes tumor formation. ..
  39. NEUROFIBROMIN AS A NEGATIVE REGULATOR FOR ASTROCYTES
    David Gutmann; Fiscal Year: 2002
    ....
  40. CNTF RECEPTORS AND NEUROPROTECTION AFTER BRAIN TRAUMA
    JOHN MACLENNAN; Fiscal Year: 2002
    ..Finally, the generality of the results will be examined by similarly studying the role of CNTF receptors and CNTF in trigeminal motor neuron responses to injury (Specific Aim 5). ..
  41. Multimodal Neuroimaging of White Matter in Autism
    Martha Herbert; Fiscal Year: 2009
    ..Our study design will also detect alternate outcomes and will yield data relevant for multiple levels of translational research. ..
  42. PKA modulation of hedgehog: a mouse medulloblastoma model
    James Waschek; Fiscal Year: 2009
    ..abstract_text> ..
  43. ANGIOTENSIN AND CENTRAL NEUROHUMORAL ACTIVATION IN CHF
    Robert Felder; Fiscal Year: 2005
    ..This work will provide new information concerning the role of the central nervous system in the pathophysiology of CHF and will draw attention to the possibility of CNS directed drug therapy for heart failure. ..
  44. Gene expression in epileptic cortical dysplasias
    Imad Najm; Fiscal Year: 2004
    ..This is a unique opportunity to screen large numbers of genes that may be involved in epileptogenesis using samples which are electrophysiologically and pathologically well defined. ..
  45. Oligodendrocyte generation during iron deficiency
    Margot Mayer Proschel; Fiscal Year: 2005
    ..abstract_text> ..
  46. Normal Human and Schizophrenic Brain
    Manuel Casanova; Fiscal Year: 2004
    ..Another possible outcome is that the number of minicolumns in the temporal lobe may differ without a concomitant change in the structural reorganization. ..
  47. Working Memory and Brain Morphology in Dyslexia and ADHD
    MICHELLE KIBBY; Fiscal Year: 2006
    ..Furthermore, earlier diagnosis will allow for earlier placement into intervention, and early intervention has been linked with better treatment outcome than intervention started later. [unreadable] [unreadable] [unreadable]..
  48. NEURONAL MIGRATION IN THE DEVELOPING BRAIN
    Huaiyu Hu; Fiscal Year: 2003
    ....
  49. Molecular Studies of Brain Malformations
    Huaiyu Hu; Fiscal Year: 2007
    ....
  50. MOLECULAR PHYSIOLOGY OF BAND 3 LIKE PROTEINS OF KIDNEY
    Seth Alper; Fiscal Year: 2007
    ..5. Define aspects of transcriptional and translational regulation of AE gene products in kidney of mutant and parental mouse strains and in cultured kidney cells. ..
  51. BRAIN STRUCTURE/FUNCTION IN OROFACIAL CLEFTING DISORDERS
    Peggy Nopoulos; Fiscal Year: 2003
    ..This award will also provide the candidate with the background necessary for ongoing research and funding leading to an independent research career. ..
  52. A Simple Measure for Studying Sensory Gating Deficits
    Neal Swerdlow; Fiscal Year: 2007
    ..abstract_text> ..
  53. Neurotoxic Interactions of Different Forms of Mercury
    Bernard Weiss; Fiscal Year: 2007
    ..The acquisition of these data offers a firm foundation for determining the risks to neurobehavioral development of concurrent exposures to both mercury species. ..
  54. Tumor Suppressors in Lymphocytes
    Matthias Wabl; Fiscal Year: 2008
    ..Subsequently, a subset of them will be further characterized and the nature of their cooperation with other oncogenes (co-mutations) will be determined. ..
  55. Genetic Analysis of Roof Plate Function in the CNS
    Kathleen Millen; Fiscal Year: 2008
    ....
  56. Stromal Stem Cells for Therapy of the Gangliosidoses
    Douglas Martin; Fiscal Year: 2004
    ..Kittens with the gangliosidoses will be evaluated for progression of neurological, hepatic and thymic disease. Mechanisms by which stem cell transplantation may alter the course of the gangliosidoses will be studied. ..
  57. RBC Ion Transporters as Hemoglobinopathy Risk Modifiers
    Seth Alper; Fiscal Year: 2009
    ..The proposed experiments will increase understanding of sickle cell disease and thalassemia by providing mouse models for genetic tests of new drug therapies under development for near-term clinical testing. ..