Daniel H Geschwind

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Genetics of autism spectrum disorders
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Trends Cogn Sci 15:409-16. 2011
  2. pmc Advances in autism
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1761, USA
    Annu Rev Med 60:367-80. 2009
  3. pmc Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features
    Sharon J Sha
    Department of Neurology, University of California, San Francisco, USA
    Neurology 79:1002-11. 2012
  4. pmc Increased fMRI signal with age in familial Alzheimer's disease mutation carriers
    MEREDITH N BRASKIE
    Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Neurobiol Aging 33:424.e11-21. 2012
  5. pmc Functional genomic analyses identify pathways dysregulated by progranulin deficiency, implicating Wnt signaling
    Ezra Y Rosen
    Interdepartmental Program for Neuroscience, University of California Los Angeles, Los Angeles, CA 90095, USA
    Neuron 71:1030-42. 2011
  6. pmc Human-specific transcriptional networks in the brain
    Genevieve Konopka
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Neuron 75:601-17. 2012
  7. pmc Genome-wide analysis of a Wnt1-regulated transcriptional network implicates neurodegenerative pathways
    Eric M Wexler
    Department of Psychiatry, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA 90024, USA
    Sci Signal 4:ra65. 2011
  8. pmc Identification of differentially expressed proteins in murine embryonic and postnatal cortical neural progenitors
    Lorelei D Shoemaker
    Pasarow Mass Spectrometry Laboratory, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS ONE 5:e9121. 2010
  9. pmc Memory performance and fMRI signal in presymptomatic familial Alzheimer's disease
    MEREDITH N BRASKIE
    Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California Laboratory of Neuro Imaging, David Geffen School of Medicine at UCLA, Los Angeles, California
    Hum Brain Mapp 34:3308-19. 2013
  10. pmc Transcriptomic analysis of autistic brain reveals convergent molecular pathology
    Irina Voineagu
    Program in Neurogenetics and Neurobehavioral Genetics, Department of Neurology and Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1769, USA
    Nature 474:380-4. 2011

Detail Information

Publications105 found, 100 shown here

  1. pmc Genetics of autism spectrum disorders
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Trends Cogn Sci 15:409-16. 2011
    ....
  2. pmc Advances in autism
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1761, USA
    Annu Rev Med 60:367-80. 2009
    ..Therefore, development of targeted therapies based on pathophysiologically and etiologically defined subtypes of ASD remains an important and achievable goal of current research...
  3. pmc Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features
    Sharon J Sha
    Department of Neurology, University of California, San Francisco, USA
    Neurology 79:1002-11. 2012
    ..To describe the phenotype of patients with C9FTD/ALS (C9ORF72) hexanucleotide repeat expansion...
  4. pmc Increased fMRI signal with age in familial Alzheimer's disease mutation carriers
    MEREDITH N BRASKIE
    Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Neurobiol Aging 33:424.e11-21. 2012
    ..This suggests that during novelty encoding, increased fMRI activity in the temporal lobe may relate to incipient AD processes...
  5. pmc Functional genomic analyses identify pathways dysregulated by progranulin deficiency, implicating Wnt signaling
    Ezra Y Rosen
    Interdepartmental Program for Neuroscience, University of California Los Angeles, Los Angeles, CA 90095, USA
    Neuron 71:1030-42. 2011
    ..Together, these in vitro and in vivo data point to an adaptive role for altered Wnt signaling in GRN deficiency-mediated FTD, representing a potential therapeutic target...
  6. pmc Human-specific transcriptional networks in the brain
    Genevieve Konopka
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Neuron 75:601-17. 2012
    ..These data demonstrate that transcriptional networks have undergone evolutionary remodeling even within a given brain region, providing a window through which to view the foundation of uniquely human cognitive capacities...
  7. pmc Genome-wide analysis of a Wnt1-regulated transcriptional network implicates neurodegenerative pathways
    Eric M Wexler
    Department of Psychiatry, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA 90024, USA
    Sci Signal 4:ra65. 2011
    ..These unbiased and genome-wide analyses provide evidence for a connection between Wnt signaling and the transcriptional regulation of neurodegenerative disease genes...
  8. pmc Identification of differentially expressed proteins in murine embryonic and postnatal cortical neural progenitors
    Lorelei D Shoemaker
    Pasarow Mass Spectrometry Laboratory, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS ONE 5:e9121. 2010
    ..The study of NSPC would be greatly facilitated by the identification of additional proteins that mediate their function and that would distinguish amongst different progenitor populations...
  9. pmc Memory performance and fMRI signal in presymptomatic familial Alzheimer's disease
    MEREDITH N BRASKIE
    Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California Laboratory of Neuro Imaging, David Geffen School of Medicine at UCLA, Los Angeles, California
    Hum Brain Mapp 34:3308-19. 2013
    ..Poorer performing carriers showed greater retrieval period signal, including in the frontal and temporal lobes, suggesting underlying pathological processes...
  10. pmc Transcriptomic analysis of autistic brain reveals convergent molecular pathology
    Irina Voineagu
    Program in Neurogenetics and Neurobehavioral Genetics, Department of Neurology and Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1769, USA
    Nature 474:380-4. 2011
    ..Collectively, our results provide strong evidence for convergent molecular abnormalities in ASD, and implicate transcriptional and splicing dysregulation as underlying mechanisms of neuronal dysfunction in this disorder...
  11. pmc Wnt-pathway activation during the early stage of neurodegeneration in FTDP-17 mice
    Martina Wiedau-Pazos
    Department of Neurology, David Geffen School of Medicine at UCLA, 635 Charles E Young Drive South, Los Angeles, CA 90095, USA
    Neurobiol Aging 30:14-21. 2009
    ..We demonstrate that this induces downstream Wnt signaling via the activation of nuclear transcription factors associated with beta-catenin, suggesting that Wnt-pathway activation is an early feature of the neurodegenerative process...
  12. pmc Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration
    Giovanni Coppola
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine UCLA, 710 Westwood Plaza, Los Angeles, CA 90095, USA
    Neurobiol Dis 22:302-11. 2006
    ..The identification of a core set of genes changing early in the FRDA pathogenesis can be a useful tool in both clarifying the disease process and in evaluating new therapeutic strategies...
  13. ncbi request reprint A genomic screen for modifiers of tauopathy identifies puromycin-sensitive aminopeptidase as an inhibitor of tau-induced neurodegeneration
    Stanislav L Karsten
    Program in Neurogenetics, Department of Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Neuron 51:549-60. 2006
    ..Further investigation is warranted in defining the role of PSA and other genes identified here as potential therapeutic targets in tauopathy...
  14. ncbi request reprint Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction
    Ikuko Teramitsu
    Interdepartmental Programs in Molecular, Cellular, and Integrative Physiology, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
    J Neurosci 24:3152-63. 2004
    ..The specific colocalization of FoxP1 and FoxP2 found in several structures in the bird and human brain predicts that mutations in FOXP1 could also be related to speech disorders...
  15. pmc RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
    Brent L Fogel
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
    Hum Mol Genet 21:4171-86. 2012
    ....
  16. pmc Endogenous Wnt signaling maintains neural progenitor cell potency
    Eric M Wexler
    Department of Psychiatry, The Semel Institute for Neuroscience and Human Behavior, Los Angeles, CA 90024 1759, USA
    Stem Cells 27:1130-41. 2009
    ..In sum, this study establishes that autonomous Wnt signaling is a conserved feature of the neurogenic niche that preserves the delicate balance between NSC maintenance and differentiation...
  17. pmc Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
    Olga Penagarikano
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Cell 147:235-46. 2011
    ..These data demonstrate a functional role for CNTNAP2 in brain development and provide a new tool for mechanistic and therapeutic research in ASD...
  18. pmc Association of GSK3B with Alzheimer disease and frontotemporal dementia
    Barbara A J Schaffer
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 2506 Gonda, 695 Charles E Young Dr S, Los Angeles, CA 90095 1761, USA
    Arch Neurol 65:1368-74. 2008
    ..As a known tau kinase, GSK3B is a promising candidate gene in the remaining cases of FTD and in AD, for which tau mutations have not been found...
  19. pmc Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2
    Ashley A Scott-Van Zeeland
    Center for Cognitive Neuroscience, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Sci Transl Med 2:56ra80. 2010
    ..The convergence between genetic findings and cognitive-behavioral models of autism provides evidence that genetic variation at CNTNAP2 predisposes to diseases such as autism in part through modulation of frontal lobe connectivity...
  20. ncbi request reprint Global analysis of gene expression in neural progenitors reveals specific cell-cycle, signaling, and metabolic networks
    Stanislav L Karsten
    Department of Neurology, UCLA School of Medicine, 710 Westwood Plaza, Los Angeles, CA 90095 1769, USA
    Dev Biol 261:165-82. 2003
    ..We propose a putative network of gene expression linking cell cycle control to cell fate pathways, providing a framework for further investigations of neural stem cell proliferation and differentiation...
  21. doi request reprint Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
    Sandy Chan Hsu
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA
    Neurogenetics 14:11-22. 2013
    ..Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation...
  22. pmc Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases
    Giovanni Coppola
    Department of Neurology, University of California, Los Angeles, CA, USA
    Hum Mol Genet 21:3500-12. 2012
    ....
  23. pmc Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype
    John M Ringman
    Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, David Geffen School of Medicine at UCLA, 10911 Weyburn Ave, Ste 200, Los Angeles, CA 90095, USA
    Arch Neurol 69:757-64. 2012
    ..To study the effect of familial Alzheimer disease (FAD) mutations and APOE genotype on plasma signaling protein levels...
  24. pmc Autism-associated promoter variant in MET impacts functional and structural brain networks
    Jeffrey D Rudie
    Ahmanson Lovelace Brain Mapping Center, University of California, Los Angeles, Los Angeles, CA 90095 7085, USA
    Neuron 75:904-15. 2012
    ..Notably, these effects were more pronounced in individuals with ASD. These findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD...
  25. pmc Familial cortical myoclonus with a mutation in NOL3
    Jonathan F Russell
    Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94158, USA
    Ann Neurol 72:175-83. 2012
    ..We identified a family suffering from adult onset, cortical myoclonus without associated seizures. We performed clinical, electrophysiological, and genetic studies to define this phenotype...
  26. pmc Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer's disease
    Liana G Apostolova
    Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, UCLA School of Medicine, Los Angeles, Calif, USA
    Dement Geriatr Cogn Disord 32:118-25. 2011
    ..Both familial and sporadic Alzheimer's disease (AD) result in progressive cortical and subcortical atrophy. Familial autosomal dominant AD (FAD) allows us to study AD brain changes presymptomatically...
  27. pmc Strategies for aggregating gene expression data: the collapseRows R function
    Jeremy A Miller
    Interdepartmental Program for Neuroscience, UCLA, Los Angeles, California, USA
    BMC Bioinformatics 12:322. 2011
    ..Several standard statistical summary techniques can be used, but network methods also provide useful alternative methods to find representatives. Currently few collapsing functions are developed and widely applied...
  28. pmc A gene expression phenotype in lymphocytes from Friedreich ataxia patients
    Giovanni Coppola
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
    Ann Neurol 70:790-804. 2011
    ..Peripheral biomarkers related to disease status would be extremely valuable for assessing drug efficacy and could provide new pathophysiological insights...
  29. pmc Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk
    Zohar Mukamel
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
    J Neurosci 31:11437-42. 2011
    ..The expression of MET in restricted human neocortical regions, and its regulation in part by FOXP2, is consistent with genetic evidence for MET contributing to ASD risk...
  30. pmc Advances in autism genetics: on the threshold of a new neurobiology
    Brett S Abrahams
    Neurology Department, and Semel Institute for Neuroscience and Behaviour, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095 1769 USA
    Nat Rev Genet 9:341-55. 2008
    ..Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme...
  31. pmc Functional organization of the transcriptome in human brain
    Michael C Oldham
    Interdepartmental Program for Neuroscience, University of California Los Angeles, Los Angeles, California 90095, USA
    Nat Neurosci 11:1271-82. 2008
    ..Our findings provide a new foundation for neurogenetic inquiries by revealing a robust and previously unrecognized organization to the human brain transcriptome...
  32. pmc Connecting genes to brain in the autism spectrum disorders
    Brett S Abrahams
    Neurogenetics Program, Neurology Department, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095 1769, USA
    Arch Neurol 67:395-9. 2010
    ..Understanding genetic data within an anatomical context will be critical to explain how individual risk factors operate to shape phenotypic presentation in patients...
  33. pmc Neuroscience in the era of functional genomics and systems biology
    Daniel H Geschwind
    Program in Neurogenetics and Neurobehavioural Genetics, Department of Neurology and Semel Institute, David Geffen School of Medicine, Los Angeles, California 90095, USA
    Nature 461:908-15. 2009
    ..Methods for network analysis and systems biology offer the promise of integrating these multiple levels of data, connecting molecular pathways to nervous system function...
  34. pmc Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds
    S Carmen Panaitof
    Department of Physiological Science, University of California, Los Angeles, California 90095, USA
    J Comp Neurol 518:1995-2018. 2010
    ..Ongoing functional work will provide important insights into the relationship between Cntnap2 and vocal communication in songbirds and thereby clarify mechanisms at play in disorders of human cognition and language...
  35. pmc Prevalent iron metabolism gene variants associated with increased brain ferritin iron in healthy older men
    George Bartzokis
    Department of Psychiatry and Biobehavioral Sciences, The David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 6968, USA
    J Alzheimers Dis 20:333-41. 2010
    ..Clarifying mechanisms of brain iron accumulation may help identify novel interventions for age-related neurodegenerative diseases...
  36. pmc Effects of risk genes on BOLD activation in presymptomatic carriers of familial Alzheimer's disease mutations during a novelty encoding task
    John M Ringman
    Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, CA 90095, USA
    Cereb Cortex 21:877-83. 2011
    ..Our findings of increased fMRI activation associated with APOE genotype but not with FAD mutations suggest that APOE exerts an effect on the BOLD signal that is not readily explained as a compensatory phenomenon...
  37. ncbi request reprint Identification of a Hoxd10-regulated transcriptional network and combinatorial interactions with Hoxa10 during spinal cord development
    Eva Hedlund
    Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    J Neurosci Res 75:307-19. 2004
    ....
  38. ncbi request reprint Genetic analysis of anterior posterior expression gradients in the developing mammalian forebrain
    Lili C Kudo
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA
    Cereb Cortex 17:2108-22. 2007
    ..These data provide an important set of new candidates for studies of cortical patterning and maturation...
  39. pmc Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects
    Sandra Almeida
    Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
    Cell Rep 2:789-98. 2012
    ..Our findings identify cell-autonomous, reversible defects in patient neurons with PGRN deficiency, and provide a compelling model for studying PGRN-dependent pathogenic mechanisms and testing potential therapies...
  40. doi request reprint DISC1: a schizophrenia gene with multiple personalities
    Eric M Wexler
    Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA 90024 1759, USA
    Neuron 72:501-3. 2011
    ..These complementary studies elegantly bridge the gap between genetic and cellular studies of schizophrenia, providing a level of functional validation that is often lacking in the field...
  41. pmc What does CNTNAP2 reveal about autism spectrum disorder?
    Olga Penagarikano
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Trends Mol Med 18:156-63. 2012
    ....
  42. pmc Human-specific transcriptional regulation of CNS development genes by FOXP2
    Genevieve Konopka
    Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
    Nature 462:213-7. 2009
    ..Because FOXP2 has an important role in speech and language in humans, the identified targets may have a critical function in the development and evolution of language circuitry in humans...
  43. pmc Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations
    John M Ringman
    Mary S Easton Center for Alzheimer s Disease Research, 10911 Weyburn Ave, Ste 200, Los Angeles, CA 90095, USA
    Arch Neurol 69:96-104. 2012
    ..To identify cerebrospinal fluid (CSF) protein changes in persons who will develop familial Alzheimer disease (FAD) due to PSEN1 and APP mutations, using unbiased proteomics...
  44. pmc Association of common variants in the Joubert syndrome gene (AHI1) with autism
    Ana I Alvarez Retuerto
    Center for Autism Research and Treatment Semel Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Hum Mol Genet 17:3887-96. 2008
    ..These data suggest a role for AHI1 in common disorders affecting human cognition and behavior...
  45. doi request reprint Gene expression analysis of neural cells and tissues using DNA microarrays
    Stanislav L Karsten
    David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Curr Protoc Neurosci . 2008
    ....
  46. pmc Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia
    Giovanni Coppola
    Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
    Hum Mol Genet 18:2452-61. 2009
    ..Finally, we show that genetic modulation of the PPARgamma pathway affects frataxin levels in vitro, supporting PPARgamma as a novel therapeutic target in FRDA...
  47. pmc Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways
    Jeremy A Miller
    Interdepartmental Program for Neuroscience, Department of Human Genetics and Biostatistics, University of California, Los Angeles, CA 90095 1769, USA
    Proc Natl Acad Sci U S A 107:12698-703. 2010
    ..Together, this work identifies convergent and divergent pathways in mouse and human, and provides a systematic framework that will be useful for understanding the applicability of mouse models for human brain disorders...
  48. pmc Genomic profiles of damage and protection in human intracerebral hemorrhage
    S Thomas Carmichael
    Department of Neurology, Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA
    J Cereb Blood Flow Metab 28:1860-75. 2008
    ..These inflammatory and anti-inflammatory networks interact at several key points in neutrophil signaling, apoptotic cell death, and protease responses, and indicate that secondary damage in ICH activates opposing molecular systems...
  49. pmc Human brain evolution: harnessing the genomics (r)evolution to link genes, cognition, and behavior
    Genevieve Konopka
    Department of Neurology, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Neuron 68:231-44. 2010
    ..Furthermore, these integrative approaches should provide important insights into human diseases...
  50. pmc Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation
    Ichiro Nakano
    Department of Pharmacology, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, CA 90095, USA
    J Cell Biol 170:413-27. 2005
    ..These findings indicate that MELK is necessary for proliferation of embryonic and postnatal MNP and suggest that it regulates the transition from GFAP-expressing progenitors to rapid amplifying progenitors in the postnatal brain...
  51. pmc Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain
    Elizabeth Spiteri
    Program in Neurogenetics, Department of Neurology, University of California Los Angeles, Los Angeles, CA 90095, USA
    Am J Hum Genet 81:1144-57. 2007
    ....
  52. pmc Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders
    Rui Luo
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, 90095, USA
    Am J Hum Genet 91:38-55. 2012
    ....
  53. pmc Network organization of the huntingtin proteomic interactome in mammalian brain
    Dyna I Shirasaki
    Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA 90095, USA
    Neuron 75:41-57. 2012
    ....
  54. pmc Disruption of astrocyte STAT3 signaling decreases mitochondrial function and increases oxidative stress in vitro
    Theodore A Sarafian
    Department of Neurobiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
    PLoS ONE 5:e9532. 2010
    ..We have recently shown that STAT3 is an important regulator of astrocyte reactivity after spinal cord injury in vivo[1]...
  55. pmc An age-related sprouting transcriptome provides molecular control of axonal sprouting after stroke
    Songlin Li
    Department of Neurology, David Geffen School of Medicine at University of California, Los Angeles, California, USA
    Nat Neurosci 13:1496-504. 2010
    ..This neuronal growth program may provide new therapeutic targets and suggest mechanisms for age-related differences in functional recovery...
  56. pmc The organization of the transcriptional network in specific neuronal classes
    Kellen D Winden
    Interdepartmental Program for Neuroscience, University of California Los Angeles, Los Angeles, CA, USA
    Mol Syst Biol 5:291. 2009
    ..These analyses provide a basis for understanding how specific aspects of neuronal phenotypic diversity are organized at the transcriptional level...
  57. pmc Gene expression study on peripheral blood identifies progranulin mutations
    Giovanni Coppola
    Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
    Ann Neurol 64:92-6. 2008
    ..This proof-of-principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease...
  58. pmc Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
    Maricela Alarcon
    UCLA Center for Autism Research and Treatment, Semel Institute of Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Am J Hum Genet 82:150-9. 2008
    ..Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures...
  59. ncbi request reprint Large-scale microarray gene expression analysis in discrete electrophysiologically identified neuronal clusters
    Anatol Bragin
    Department of Neurology, Seizure Disorder Center, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095 1769, USA
    J Neurosci Methods 133:49-55. 2004
    ....
  60. pmc An evaluation of tyramide signal amplification and archived fixed and frozen tissue in microarray gene expression analysis
    Stanislav L Karsten
    Department of Neurology, Program in Neurogenetics, UCLA School of Medicine, 710 Westwood Plaza, Los Angeles, CA 90095 1769, USA
    Nucleic Acids Res 30:E4. 2002
    ..Consistent results are more easily obtainable using ethanol-fixed tissues, whereas formalin-fixed tissue does not typically provide a useful substrate for cDNA synthesis and labeling...
  61. ncbi request reprint Association between human mu-opioid receptor gene polymorphism, pain tolerance, and opioid addiction
    Peggy Compton
    Acute Care Section, UCLA School of Nursing, Los Angeles, California 90095 6918, USA
    Am J Med Genet B Neuropsychiatr Genet 121:76-82. 2003
    ....
  62. pmc Replication of autism linkage: fine-mapping peak at 17q21
    Rita M Cantor
    Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095 7088, USA
    Am J Hum Genet 76:1050-6. 2005
    ..Fine mapping at 2-centimorgan (cM) intervals in the combined sample of families with no affected females reveals a linkage peak at 66.85 cM, which places this locus at 17q21...
  63. ncbi request reprint Working memory and relational reasoning in Klinefelter syndrome
    Christina L Fales
    Department of Psychology, University of California, Los Angeles, California 90095 1563, USA
    J Int Neuropsychol Soc 9:839-46. 2003
    ..These results suggest that men with KS have intact nonverbal reasoning abilities, but that a difficulty in encoding verbal information into working memory may underlie their executive and linguistic impairments...
  64. ncbi request reprint DNA microarrays: translation of the genome from laboratory to clinic
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology, and the Center for Neurobehavioral Genetics, Neuropsychiatric Institute, The David Geffen School of Medicine, University of California, Los Angeles, California, USA
    Lancet Neurol 2:275-82. 2003
    ..Progress in these studies will translate into array-based disease classification schemes and help optimise therapy for individual patients based on gene expression patterns or their genetic background...
  65. pmc Evidence for sex-specific risk alleles in autism spectrum disorder
    Jennifer L Stone
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Am J Hum Genet 75:1117-23. 2004
    ..01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases...
  66. pmc Heritability of lobar brain volumes in twins supports genetic models of cerebral laterality and handedness
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology, University of California School of Medicine, 710 Westwood Plaza, Los Angeles, CA 90095 1769, USA
    Proc Natl Acad Sci U S A 99:3176-81. 2002
    ....
  67. pmc Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
    Joanna C Jen
    Department of Neurology, University of California, Los Angeles, CA 90095, USA
    Science 304:1509-13. 2004
    ..Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing...
  68. ncbi request reprint Tau phosphorylation, tangles, and neurodegeneration: the chicken or the egg?
    Daniel H Geschwind
    The Neuropsychiatric Institute, David Geffen School of Medicine, University of California, Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095, USA
    Neuron 40:457-60. 2003
    ..Now, several animal models and data from human patients provide converging evidence that aberrant tau phosphorylation can cause a neurodegenerative phenotype similar to that seen in human neurodegenerative diseases...
  69. ncbi request reprint Neural progenitor genes. Germinal zone expression and analysis of genetic overlap in stem cell populations
    Mathew C Easterday
    Interdepartmental Program for Neuroscience, UCLA, School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
    Dev Biol 264:309-22. 2003
    ..Taken together, these studies identify many genes not previously associated with neural progenitor cell biology and also provide a rational scheme for stratification of microarray data for functional analysis...
  70. ncbi request reprint 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...
  71. ncbi request reprint Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature
    Roongroj Bhidayasiri
    Department of Neurology, UCLA Medical Center, Los Angeles, Calif, USA
    Arch Neurol 62:1865-9. 2005
    ..Late-onset FA (LOFA) is defined as onset after age 25 years...
  72. pmc Singing mice, songbirds, and more: models for FOXP2 function and dysfunction in human speech and language
    Stephanie A White
    Department of Physiological Science, University of California, Los Angeles, California 90095, USA
    J Neurosci 26:10376-9. 2006
    ..Below, we describe genetic through behavioral techniques used currently to investigate FoxP2 in birds, rodents, and humans for discovery of the neural bases of vocal learning and language...
  73. ncbi request reprint Apolipoprotein E genotype and age-related myelin breakdown in healthy individuals: implications for cognitive decline and dementia
    George Bartzokis
    Department of Neurology, The David Geffen School of Medicine at UCLA, USA
    Arch Gen Psychiatry 63:63-72. 2006
    ..This may result in a progressive "disconnection" of widely distributed neural networks that may underlie the age risk factor for AD...
  74. ncbi request reprint Thresholding rules for recovering a sparse signal from microarray experiments
    Chiara Sabatti
    Department of Human Genetics, UCLA, 695 Charles Young Dr South, Los Angeles, CA 90095 7088, USA
    Math Biosci 176:17-34. 2002
    ..Given the amount of information actually available, the thresholding rule described provides a reasonable estimator for the change in expression of any gene in two compared cell lines...
  75. ncbi request reprint Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
    Yuhei Nishimura
    Center for Autism Research and Treatment, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
    Hum Mol Genet 16:1682-98. 2007
    ..These results provide evidence that blood derived lymphoblastoid cells gene expression is likely to be useful for identifying etiological subsets of autism and exploring its pathophysiology...
  76. pmc Microarrays and the microscope: balancing throughput with resolution
    Giovanni Coppola
    Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA
    J Physiol 575:353-9. 2006
    ..Here we review representative examples of currently available methods that allow high resolution and specificity in brain microarray studies, while maintaining the goal of comprehensive, high-throughput analysis...
  77. pmc Out FOXing Parkinson disease: where development meets neurodegeneration
    Eric M Wexler
    Division of Geriatric Psychiatry and the Program in Neurobehavioral Genetics, University of California at Los Angeles, Los Angeles, California, United States of America
    PLoS Biol 5:e334. 2007
  78. doi request reprint Cortical evolution: judge the brain by its cover
    Daniel H Geschwind
    Program in Neurogenetics, Department of Neurology, University of California, Los Angeles, Los Angeles, CA, 90095, USA Electronic address
    Neuron 80:633-47. 2013
    ..This knowledge provides essential insight into the pathogenesis of human-specific neuropsychiatric disorders...
  79. doi request reprint Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
    Neelroop N Parikshak
    Program in Neurobehavioral Genetics, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA Interdepartmental Program in Neuroscience, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Cell 155:1008-21. 2013
    ..Furthermore, we show that the patterns of ASD and ID risk genes are distinct, providing a biological framework for further investigating the pathophysiology of ASD. ..
  80. pmc Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease
    Suzee E Lee
    Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, ON, Canada Department of Neurology and Neurosciences, Brain Dynamics Research Center, Dokuz Eylul University, Izmir, Turkey BEYINMER, Istanbul Kultur University, Istanbul, Turkey Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marques de Valdecilla University Hospital, Institute for Formation and Research of the Foundation Marqués de Valdecilla IFIMAV, University of Cantabria, Cantabria, Spain Cognitive Disorders Unit, Department of Neurology, Hospital Universitario Donostia, San Sebastian, Gipuzkoa, Spain Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Area 6, Institute Carlos III, Spain Neuroscience Area, Institute Biodonostia, San Sebastian, Gipuzkoa, Spain Department of Neurology, Neurobehavior Division, University of California, Los Angeles Department of Psychiatry and Neurology, University of California, Los Angeles, CA Department of Neuroscience, Mayo Clinic, Rochester, MN Department of Medicine, Weill Medical College of Cornell University
    Alzheimer Dis Assoc Disord 27:302-9. 2013
    ..These data warrant larger studies with clinicopathologic correlation to elucidate the influence of this genetic variant on neurodegenerative disease. ..
  81. pmc Inflammatory mediators alter the astrocyte transcriptome and calcium signaling elicited by multiple G-protein-coupled receptors
    Mary E Hamby
    Department of Neurobiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California 90095 1763, USA
    J Neurosci 32:14489-510. 2012
    ....
  82. pmc Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia
    Brent L Fogel
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA
    Mov Disord 27:442-6. 2012
    ..Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia...
  83. pmc Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion
    Baber K Khan
    Department of Neurology, University of California San Francisco, San Francisco, CA, USA
    J Neurol Neurosurg Psychiatry 83:358-64. 2012
    ..Here, two patients with bvFTD-SP with chromosome 9 open reading frame 72 (C9ORF72) hexanucleotide expansions are described...
  84. pmc Cell lineage and regional identity of cultured spinal cord neural stem cells and comparison to brain-derived neural stem cells
    Theresa K Kelly
    The Semel Institute for Neuroscience and Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA
    PLoS ONE 4:e4213. 2009
    ..Furthermore, there is a population of a LeX negative NSC that is present in neurospheres derived from the embryonic spinal cord but not the cortex...
  85. ncbi request reprint Expression patterns of epidermal growth factor receptor and fibroblast growth factor receptor 1 mRNA in fetal human brain
    Lijuan Fu
    Department of Neurology, University of California, Los Angeles School of Medicine, Los Angeles, California 90095, USA
    J Comp Neurol 462:265-73. 2003
    ..The current study suggests that HEGFR and HFGFR1 are likely to play different roles during human brain development, but that these roles will be similar to those observed in the rodent brain...
  86. pmc PTEN negatively regulates neural stem cell self-renewal by modulating G0-G1 cell cycle entry
    Matthias Groszer
    Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Proc Natl Acad Sci U S A 103:111-6. 2006
    ..Therefore, loss of PTEN leads to cell physiological changes, which collectively are sufficient to increase the pool of self-renewing neural stem cells and promote their escape from the homeostatic mechanisms of proliferation control...
  87. pmc Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families
    Maricela Alarcon
    Center for Neurobehavioral Genetics and Neuropsychiatric Research Institute, and Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 70:60-71. 2002
    ..The putative autism-susceptibility locus on chromosome 7 may be the result of separate QTLs for the language and repetitive or stereotyped behavior deficits that are associated with the disorder...
  88. ncbi request reprint Progress in realizing the promise of microarrays in systems neurobiology
    Joseph D Dougherty
    Interdepartmental Program in the Neurosciences, University of California at Los Angeles, Los Angeles, CA 90095, USA
    Neuron 45:183-5. 2005
    ..We discuss these findings and the implications of this development for both systems and molecular neuroscience...
  89. ncbi request reprint Microarray platforms: introduction and application to neurobiology
    Stanislav L Karsten
    Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles 90095, USA
    Int Rev Neurobiol 60:1-23. 2004
  90. ncbi request reprint Wnt genes define distinct boundaries in the developing human brain: implications for human forebrain patterning
    A Abu-Khalil
    Program in Neurogenetics, Neurology Department, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California 90095 1769, USA
    J Comp Neurol 474:276-88. 2004
    ....
  91. pmc Conservation and evolution of gene coexpression networks in human and chimpanzee brains
    Michael C Oldham
    Interdepartmental Program for Neuroscience, Program in Neurogenetics, and Semel Institute, David Geffen School of Medicine, Los Angeles, CA 90095 6814, USA
    Proc Natl Acad Sci U S A 103:17973-8. 2006
    ..Our results provide insights into the molecular bases of primate brain organization and demonstrate the general utility of weighted gene coexpression network analysis...
  92. pmc Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage
    Sarah J Spence
    Department of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, California 90095, USA
    Am J Med Genet B Neuropsychiatr Genet 141:591-8. 2006
    ..However, the inconsistencies in regions identified across studies highlight the importance of increasing sample sizes to provide adequate power to test replications in independent samples...
  93. pmc Birdsong decreases protein levels of FoxP2, a molecule required for human speech
    Julie E Miller
    Department of Physiological Science, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    J Neurophysiol 100:2015-25. 2008
    ..Our data, together with recent reports on FoxP2's target genes, suggest that lowered FoxP2 levels may allow for expression of genes important for circuit modification and thus vocal variability...
  94. ncbi request reprint A quantitative trait locus analysis of social responsiveness in multiplex autism families
    Jacqueline A Duvall
    Department of Neurology, University of California, Los Angeles, USA
    Am J Psychiatry 164:656-62. 2007
    ..The authors present the first genome-wide scan for a social endophenotype in autism using the Social Responsiveness Scale, which provides a quantitative measure of autistic-like behavior, primarily focused on social relatedness...
  95. ncbi request reprint High density SNP association study of a major autism linkage region on chromosome 17
    Jennifer L Stone
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Hum Mol Genet 16:704-15. 2007
    ..34-2.29...
  96. ncbi request reprint Apolipoprotein E affects both myelin breakdown and cognition: implications for age-related trajectories of decline into dementia
    George Bartzokis
    Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Biol Psychiatry 62:1380-7. 2007
    ..Apolipoprotein E (ApoE) 4 allele is the second most important AD risk factor. We tested the hypothesis that ApoE4 accelerates age-related slowing in CPS through the process of myelin breakdown...
  97. pmc Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia
    Maria Jesus Sobrido
    Department of Neurology, The David Geffen School of Medicine at UCLA, Los Angeles, CA 9095, USA
    Arch Neurol 60:698-702. 2003
    ..A subset of familial cases (FTDP-17) of frontotemporal dementia (FTD) are caused by mutations in the tau gene. The role of tau gene mutations and haplotypes in sporadic FTD and the functional consequences of tau polymorphisms are unknown...
  98. ncbi request reprint Identification of process-localized mRNAs from cultured rodent hippocampal neurons
    Michael M Poon
    Interdepartmental Program in Neuroscience, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA
    J Neurosci 26:13390-9. 2006
    ..These findings indicate that there is a rich repertoire of mRNAs whose translation can be locally regulated and support the emerging idea that local protein synthesis serves to boost the translational capacity of synapses...
  99. doi request reprint Sex differences in autism spectrum disorders
    Donna M Werling
    Neuroscience Interdepartmental Program, Brain Research Institute, Los Angeles, California, USA
    Curr Opin Neurol 26:146-53. 2013
    ....
  100. pmc Sumoylated MEF2A coordinately eliminates orphan presynaptic sites and promotes maturation of presynaptic boutons
    Tomoko Yamada
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 33:4726-40. 2013
    ..Our study has important implications for understanding neuronal connectivity in brain development and disease...
  101. pmc A systems level analysis of transcriptional changes in Alzheimer's disease and normal aging
    Jeremy A Miller
    Center for Neurobehavioral Genetics, University of California, Los Angeles, Los Angeles, California 90095 1769, USA
    J Neurosci 28:1410-20. 2008
    ..Finally, we found that presenilin 1 (PSEN1) is highly coexpressed with canonical myelin proteins, suggesting a role for PSEN1 in aspects of glial-neuronal interactions related to neurodegenerative processes...