Giovanni Coppola
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Computer Science
Giovanni Coppola's Degrees
- Masters Computer Science Stanford University
- Bachelors Computer Science University of California, Berkeley
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(Suggest an Edit or Addition)Giovanni Coppola's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS (2011) (4089)
- Astrocyte scar formation aids central nervous system axon regeneration (2016) (1197)
- Neuroprotective effects of brain-derived neurotrophic factor in rodent and primate models of Alzheimer's disease (2009) (882)
- Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders (2019) (724)
- The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data (2014) (646)
- Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis (2009) (562)
- RANDOMIZED CONTROLLED TRIAL OF STREPTOKINASE, ASPIRIN, AND COMBINATION OF BOTH IN TREATMENT OF ACUTE ISCHEMIC STROKE (1995) (493)
- Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation (2016) (488)
- Neural Circuit-Specialized Astrocytes: Transcriptomic, Proteomic, Morphological, and Functional Evidence (2017) (440)
- Human-Specific Transcriptional Regulation of CNS Development Genes by FOXP2 (2009) (362)
- Diagnostic value of plasma phosphorylated tau181 in Alzheimer’s disease and frontotemporal lobar degeneration (2020) (322)
- Transcriptome analysis of embryonic and adult sensory axons reveals changes in mRNA repertoire localization. (2011) (316)
- Incidence and impact of subclinical epileptiform activity in Alzheimer's disease (2016) (299)
- An age-related sprouting transcriptome provides molecular control of axonal sprouting after stroke (2010) (290)
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure (2020) (288)
- Integrated genomics and proteomics to define huntingtin CAG length-dependent networks in HD Mice (2016) (288)
- Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. (2007) (280)
- The HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice (2008) (272)
- A Systems-Level Analysis of the Peripheral Nerve Intrinsic Axonal Growth Program (2016) (267)
- Network Organization of the Huntingtin Proteomic Interactome in Mammalian Brain (2012) (266)
- Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice (2013) (248)
- Self-Organized Cerebral Organoids with Human-Specific Features Predict Effective Drugs to Combat Zika Virus Infection. (2017) (247)
- New Transgenic Mouse Lines for Selectively Targeting Astrocytes and Studying Calcium Signals in Astrocyte Processes In Situ and In Vivo (2016) (246)
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank (2020) (244)
- Required growth facilitators propel axon regeneration across complete spinal cord injury (2018) (242)
- Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1. (2010) (229)
- Life extension factor klotho enhances cognition. (2014) (225)
- Cerebrospinal fluid neurofilament concentration reflects disease severity in frontotemporal degeneration (2014) (223)
- HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model (2008) (221)
- Astrocyte layers in the mammalian cerebral cortex revealed by a single-cell in situ transcriptomic map (2020) (220)
- Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative (2007) (218)
- Gender Modulates the APOE ε4 Effect in Healthy Older Adults: Convergent Evidence from Functional Brain Connectivity and Spinal Fluid Tau Levels (2012) (217)
- Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export (2015) (214)
- ATF4 is an oxidative stress–inducible, prodeath transcription factor in neurons in vitro and in vivo (2008) (213)
- Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. (2012) (208)
- TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers (2010) (208)
- Accelerating axonal growth promotes motor recovery after peripheral nerve injury in mice. (2011) (203)
- Elevated TREM2 Gene Dosage Reprograms Microglia Responsivity and Ameliorates Pathological Phenotypes in Alzheimer’s Disease Models (2018) (202)
- Combined Intrinsic and Extrinsic Neuronal Mechanisms Facilitate Bridging Axonal Regeneration One Year after Spinal Cord Injury (2009) (200)
- Specific Functions for ERK/MAPK Signaling during PNS Development (2011) (200)
- Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion (2012) (193)
- Clinicopathological correlations in behavioural variant frontotemporal dementia (2017) (193)
- SIRT1 Deficiency in Microglia Contributes to Cognitive Decline in Aging and Neurodegeneration via Epigenetic Regulation of IL-1β (2015) (193)
- Reducing Astrocyte Calcium Signaling In Vivo Alters Striatal Microcircuits and Causes Repetitive Behavior (2018) (191)
- Grey matter loss in relapsing–remitting multiple sclerosis: A voxel-based morphometry study (2006) (176)
- Inflammatory Mediators Alter the Astrocyte Transcriptome and Calcium Signaling Elicited by Multiple G-Protein-Coupled Receptors (2012) (175)
- Frontotemporal dementia due to C9ORF72 mutations (2012) (173)
- Subcellular Knockout of Importin β1 Perturbs Axonal Retrograde Signaling (2012) (167)
- Exome sequencing and analysis of 454,787 UK Biobank participants (2021) (166)
- Hyperactivity with Disrupted Attention by Activation of an Astrocyte Synaptogenic Cue (2019) (165)
- Signaling to Transcription Networks in the Neuronal Retrograde Injury Response (2010) (164)
- Huntington's disease accelerates epigenetic aging of human brain and disrupts DNA methylation levels (2016) (164)
- Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank (2020) (162)
- N‐acetylcysteine targets 5 lipoxygenase‐derived, toxic lipids and can synergize with prostaglandin E2 to inhibit ferroptosis and improve outcomes following hemorrhagic stroke in mice (2018) (154)
- Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. (2019) (153)
- Disruption of Astrocyte STAT3 Signaling Decreases Mitochondrial Function and Increases Oxidative Stress In Vitro (2010) (149)
- Tet3 regulates synaptic transmission and homeostatic plasticity via DNA oxidation and repair (2015) (147)
- Tauopathy with paired helical filaments in an aged chimpanzee (2008) (137)
- TDP-43 frontotemporal lobar degeneration and autoimmune disease (2013) (133)
- Inhibition of transglutaminase 2 mitigates transcriptional dysregulation in models of Huntington disease (2010) (132)
- Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. (2014) (132)
- Mitochondrial dysfunction and immune activation are detectable in early Alzheimer's disease blood. (2012) (132)
- Functional Genomic Analyses Identify Pathways Dysregulated by Progranulin Deficiency, Implicating Wnt Signaling (2011) (128)
- Microbiota effects on cancer: from risks to therapies (2018) (128)
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis (2020) (127)
- Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank (2019) (126)
- De Novo Coding Variants Are Strongly Associated with Tourette Disorder (2017) (125)
- Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification (2013) (124)
- The Longitudinal Trajectory of Default Mode Network Connectivity in Healthy Older Adults Varies As a Function of Age and Is Associated with Changes in Episodic Memory and Processing Speed (2018) (123)
- Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome (2016) (123)
- Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia. (2016) (120)
- Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects. (2012) (120)
- GDF10 Is a Signal for Axonal Sprouting and Functional Recovery after Stroke (2015) (120)
- Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers (2016) (119)
- Astrocyte molecular signatures in Huntington’s disease (2019) (117)
- Mithramycin Is a Gene-Selective Sp1 Inhibitor That Identifies a Biological Intersection between Cancer and Neurodegeneration (2011) (117)
- Sox11 Expression Promotes Regeneration of Some Retinal Ganglion Cell Types but Kills Others (2017) (116)
- Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. (2011) (106)
- Progranulin mutations as risk factors for Alzheimer disease. (2013) (106)
- Generation and post-injury integration of human spinal cord neural stem cells (2018) (104)
- 18F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes (2019) (104)
- Suberoylanilide Hydroxamic Acid (Vorinostat) Up-regulates Progranulin Transcription (2011) (104)
- Injured adult neurons regress to an embryonic transcriptional growth state (2020) (102)
- Therapeutic targeting of oxygen-sensing prolyl hydroxylases abrogates ATF4-dependent neuronal death and improves outcomes after brain hemorrhage in several rodent models (2016) (101)
- Mechanistic Differences in Neuropathic Pain Modalities Revealed by Correlating Behavior with Global Expression Profiling (2018) (101)
- Kinetic Profile of the Transcriptome Changes Induced in the Choroid Plexus by Peripheral Inflammation (2009) (100)
- Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia (2009) (100)
- Intergenerational instability and marked anticipation in SCA-17 (2003) (99)
- Distinct Subtypes of Behavioral Variant Frontotemporal Dementia Based on Patterns of Network Degeneration. (2016) (99)
- The Disruption of Celf6, a Gene Identified by Translational Profiling of Serotonergic Neurons, Results in Autism-Related Behaviors (2013) (98)
- Conditioning lesions before or after spinal cord injury recruit broad genetic mechanisms that sustain axonal regeneration: Superiority to camp-mediated effects (2012) (98)
- Divergent CSF τ alterations in two common tauopathies: Alzheimer's disease and progressive supranuclear palsy (2014) (96)
- Inosine Alters Gene Expression and Axonal Projections in Neurons Contralateral to a Cortical Infarct and Improves Skilled Use of the Impaired Limb (2009) (96)
- Transcriptome signature of the adult mouse choroid plexus (2011) (93)
- Gene expression study on peripheral blood identifies progranulin mutations (2008) (92)
- Specific Acetylation of p53 by HDAC Inhibition Prevents DNA Damage-Induced Apoptosis in Neurons (2013) (91)
- Ancient hybridization and strong adaptation to viruses across African vervet monkey populations (2016) (91)
- Differential effects of partial and complete loss of TREM2 on microglial injury response and tauopathy (2018) (89)
- Genomic Analysis Reveals Disruption of Striatal Neuronal Development and Therapeutic Targets in Human Huntington’s Disease Neural Stem Cells (2015) (88)
- A blood gene expression marker of early Alzheimer's disease. (2013) (87)
- Microarray and Pathway Analysis Reveal Distinct Mechanisms Underlying Cannabinoid-Mediated Modulation of LPS-Induced Activation of BV-2 Microglial Cells (2013) (86)
- C9ORF72 repeat expansions in cases with previously identified pathogenic mutations (2013) (85)
- Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity (2021) (85)
- Neurophysiological tests and neuroimaging procedures in non‐acute headache (2nd edition) (2011) (85)
- Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations (2021) (83)
- The effect of the serotonin transporter polymorphism (5-HTTLPR) on empathic and self-conscious emotional reactivity. (2013) (82)
- Human iPSC-Derived Neuronal Model of Tau-A152T Frontotemporal Dementia Reveals Tau-Mediated Mechanisms of Neuronal Vulnerability (2016) (81)
- Robust Axonal Regeneration Occurs in the Injured CAST/Ei Mouse CNS (2015) (81)
- Inosine Augments the Effects of a Nogo Receptor Blocker and of Environmental Enrichment to Restore Skilled Forelimb Use after Stroke (2011) (80)
- A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2019) (77)
- Lipocalin 2 is a Choroid Plexus Acute-Phase Protein (2008) (77)
- Differential transcriptional profiles mediated by exposure to the cannabinoids cannabidiol and Δ9‐tetrahydrocannabinol in BV‐2 microglial cells (2012) (75)
- HLA-DRB1*1501 and response to copolymer-1 therapy in relapsing-remitting multiple sclerosis (2001) (75)
- Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers (2015) (74)
- De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis (2018) (74)
- A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction (2017) (73)
- Lipocalin 2 is present in the EAE brain and is modulated by natalizumab (2012) (73)
- CREB controls cortical circuit plasticity and functional recovery after stroke (2018) (73)
- Altered iron metabolism is part of the choroid plexus response to peripheral inflammation. (2009) (71)
- Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database (2016) (70)
- Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado‐Joseph disease protein ataxin‐3 (2007) (69)
- Evidence of the neuroprotective role of citicoline in glaucoma patients. (2008) (69)
- Large-scale assessment of the gliomasphere model system. (2016) (69)
- Variation in longevity gene KLOTHO is associated with greater cortical volumes (2015) (68)
- Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts (2016) (67)
- An Epigenetic Signature in Peripheral Blood Associated with the Haplotype on 17q21.31, a Risk Factor for Neurodegenerative Tauopathy (2014) (66)
- Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification (2015) (66)
- Loss of functional connectivity is greater outside the default mode network in nonfamilial early-onset Alzheimer's disease variants (2015) (66)
- The BMP Coreceptor RGMb Promotes While the Endogenous BMP Antagonist Noggin Reduces Neurite Outgrowth and Peripheral Nerve Regeneration by Modulating BMP Signaling (2011) (65)
- N17 Modifies Mutant Huntingtin Nuclear Pathogenesis and Severity of Disease in HD BAC Transgenic Mice (2015) (62)
- In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons. (2011) (62)
- Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology (2018) (61)
- Genomic Profiles of Damage and Protection in Human Intracerebral Hemorrhage (2008) (61)
- The choroid plexus response to a repeated peripheral inflammatory stimulus (2009) (61)
- Gene expression profiling of R6/2 transgenic mice with different CAG repeat lengths reveals genes associated with disease onset and progression in Huntington's disease (2011) (59)
- Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families (1999) (59)
- Patient-Tailored, Connectivity-Based Forecasts of Spreading Brain Atrophy (2019) (59)
- A gene expression phenotype in lymphocytes from friedreich ataxia patients (2011) (59)
- Fine-mapping of the human leukocyte antigen locus as a risk factor for Alzheimer disease: A case–control study (2017) (57)
- Utility of the global CDR® plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium (2020) (56)
- Relative Frequencies of CAG Expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families (2000) (56)
- HIF prolyl hydroxylase inhibitors prevent neuronal death induced by mitochondrial toxins: therapeutic implications for Huntington's disease and Alzheimer's disease. (2010) (55)
- Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development (2017) (55)
- Novel Roles for Osteopontin and Clusterin in Peripheral Motor and Sensory Axon Regeneration (2014) (55)
- Small Molecule Activation of Adaptive Gene Expression (2008) (54)
- The choroid plexus transcriptome reveals changes in type I and II interferon responses in a mouse model of Alzheimer’s disease (2015) (54)
- Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration (2022) (53)
- Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations (2012) (52)
- Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration (2006) (52)
- Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases (2018) (52)
- Pathways and gene networks mediating the regulatory effects of cannabidiol, a nonpsychoactive cannabinoid, in autoimmune T cells (2016) (52)
- Greater medial temporal hypometabolism and lower cortical amyloid burden in ApoE4-positive AD patients (2013) (50)
- Reduced striatal [123I]FP‐CIT binding in SCA2 patients without parkinsonism (2004) (50)
- Systemic klotho is associated with KLOTHO variation and predicts intrinsic cortical connectivity in healthy human aging (2016) (49)
- Cerebrospinal Fluid Biomarkers and Proximity to Diagnosis in Preclinical Familial Alzheimer’s Disease (2012) (48)
- Genetic variation and gene expression across multiple tissues and developmental stages in a nonhuman primate. (2016) (48)
- Metabolic characterization of isocitrate dehydrogenase (IDH) mutant and IDH wildtype gliomaspheres uncovers cell type-specific vulnerabilities (2018) (48)
- Partial inhibition of the overactivated Ku80-dependent DNA repair pathway rescues neurodegeneration in C9ORF72-ALS/FTD (2019) (46)
- A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques (2015) (46)
- Common variants in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy (2016) (46)
- Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease (2015) (46)
- ApoE &egr;4 Is Associated With Cognition, Brain Integrity, and Atrophy in HIV Over Age 60 (2016) (46)
- Plasma Tau and Neurofilament Light in Frontotemporal Lobar Degeneration and Alzheimer Disease (2020) (45)
- Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. (2014) (45)
- Context-Specific Striatal Astrocyte Molecular Responses Are Phenotypically Exploitable (2020) (44)
- Younger age of dementia diagnosis in a Hispanic population in southern California (2014) (43)
- Accuracy of clinical diagnostic criteria for Friedreich's ataxia (2000) (43)
- Mapping Gene Expression in Excitatory Neurons during Hippocampal Late-Phase Long-Term Potentiation (2017) (43)
- Clinicopathological Study of Patients With C9ORF72-Associated Frontotemporal Dementia Presenting With Delusions (2015) (43)
- Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes (2021) (41)
- Cytidine‐5′‐diphosphocholine (Citicoline): a pilot study in patients with non‐arteritic ischaemic optic neuropathy (2008) (41)
- Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease (2013) (41)
- A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy. (2015) (41)
- Use of the CDR® plus NACC FTLD in mild FTLD: Data from the ARTFL/LEFFTDS consortium (2019) (41)
- Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases (2020) (40)
- Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease (2022) (40)
- Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers (2018) (40)
- Cannabidiol, a non-psychoactive cannabinoid, leads to EGR2-dependent anergy in activated encephalitogenic T cells (2015) (40)
- A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors (2019) (39)
- Neurodegenerative disease biomarkers Aβ1–40, Aβ1–42, tau, and p‐tau181 in the vervet monkey cerebrospinal fluid: Relation to normal aging, genetic influences, and cerebral amyloid angiopathy (2018) (39)
- Primary brain calcification: an international study reporting novel variants and associated phenotypes (2018) (39)
- Rare TREM2 variants associated with Alzheimer’s disease display reduced cell surface expression (2016) (38)
- Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 Copy Number Variant–Mediated Risk for Neuropsychiatric Disorders (2020) (38)
- Familial Behavioral Variant Frontotemporal Dementia Associated With Astrocyte-Predominant Tauopathy (2015) (37)
- Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder (2015) (36)
- Prospective Identification, Isolation, and Profiling of a Telomerase-Expressing Subpopulation of Human Neural Stem Cells, using sox2 Enhancer-Directed Fluorescence-Activated Cell Sorting (2010) (36)
- A pathogenetic classification of hereditary ataxias: Is the time ripe? (2004) (36)
- Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease (2000) (36)
- A Shift to Organismal Stress Resistance in Programmed Cell Death Mutants (2013) (36)
- Longitudinal system-based analysis of transcriptional responses to type I interferons. (2009) (36)
- Decoding the Long Noncoding RNA During Cardiac Maturation: A Roadmap for Functional Discovery (2016) (35)
- The 5-HTTLPR polymorphism in the serotonin transporter gene moderates the association between emotional behavior and changes in marital satisfaction over time. (2013) (35)
- A Novel Protocol for Directed Differentiation of C9orf72-Associated Human Induced Pluripotent Stem Cells Into Contractile Skeletal Myotubes (2016) (35)
- MicroRNA signatures of endogenous Huntingtin CAG repeat expansion in mice (2018) (35)
- DNA Methylation Analysis Validates Organoids as a Viable Model for Studying Human Intestinal Aging (2019) (35)
- Biogas Cleaning: Activated Carbon Regeneration for H2S Removal (2018) (35)
- Sumoylated MEF2A Coordinately Eliminates Orphan Presynaptic Sites and Promotes Maturation of Presynaptic Boutons (2013) (34)
- Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study (2009) (34)
- A Shift in Microglial β‐Amyloid Binding in Alzheimer's Disease Is Associated with Cerebral Amyloid Angiopathy (2013) (34)
- Long‐term clinical experience with weekly interferon beta‐1a in relapsing multiple sclerosis (2006) (33)
- Differential regulation of type III secretion and virulence genes in Bordetella pertussis and Bordetella bronchiseptica by a secreted anti-σ factor (2016) (33)
- Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia (2012) (33)
- Activity-Dependent Regulation of Alternative Cleavage and Polyadenylation During Hippocampal Long-Term Potentiation (2017) (33)
- miRNA expression profiles and molecular networks in resting and LPS-activated BV-2 microglia—Effect of cannabinoids (2019) (33)
- Activation of the HIF1α/PFKFB3 stress response pathway in beta cells in type 1 diabetes (2019) (32)
- Epigenetics of Alzheimer’s Disease and Frontotemporal Dementia (2013) (32)
- Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration (2019) (31)
- Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank (2022) (31)
- Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients (2018) (31)
- Cardiac Dysfunction in the BACHD Mouse Model of Huntington’s Disease (2016) (30)
- The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology (2019) (30)
- Molecular and functional properties of cortical astrocytes during peripherally induced neuroinflammation (2021) (30)
- A Multicentre Trial to Evaluate the Efficacy and Tolerability of α-Glycerylphosphorylcholine versus Cytosine Diphosphocholine in Patients with Vascular Dementia (1991) (30)
- New Genes and New Insights from Old Genes: Update on Alzheimer Disease (2013) (29)
- Chronic administration of cholesterol oximes in mice increases transcription of cytoprotective genes and improves transcriptome alterations induced by alpha-synuclein overexpression in nigrostriatal dopaminergic neurons (2014) (29)
- Genome-wide association study identifies MAPT locus influencing human plasma tau levels (2017) (28)
- Specific and behaviorally consequential astrocyte Gq GPCR signaling attenuation in vivo with iβARK (2021) (28)
- A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. (2015) (27)
- Neuropsychological assessment, quantitative MRI and ApoE gene polymorphisms in a series of MS patients treated with IFN beta-1b (2006) (27)
- Electrophysiological assessment of visual function in patients with non‐arteritic ischaemic optic neuropathy (2008) (27)
- DNA methylation study of Huntington’s disease and motor progression in patients and in animal models (2020) (26)
- Hydroxamic Acid-Based Histone Deacetylase (HDAC) Inhibitors Can Mediate Neuroprotection Independent of HDAC Inhibition (2014) (26)
- Synaptic processes and immune-related pathways implicated in Tourette syndrome (2020) (26)
- Synaptic processes and immune-related pathways implicated in Tourette syndrome (2020) (26)
- Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration (2021) (26)
- An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs (2021) (26)
- Genetic screen in a large series of patients with primary progressive aphasia (2018) (26)
- Reduction of optic nerve fiber layer thickness in CADASIL (2007) (25)
- Designing, performing, and interpreting a microarray-based gene expression study. (2011) (25)
- Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration (2019) (25)
- Active lifestyles moderate clinical outcomes in autosomal dominant frontotemporal degeneration (2020) (25)
- AD-linked R47H-TREM2 mutation induces disease-enhancing microglial states via AKT hyperactivation (2021) (25)
- Decision tree analysis of genetic risk for clinically heterogeneous Alzheimer’s disease (2015) (25)
- Novel candidate blood‐based transcriptional biomarkers of machado‐joseph disease (2015) (24)
- C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis (2016) (24)
- De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. (2018) (24)
- Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates (2018) (23)
- Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers (2019) (23)
- Plasma Methionine Sulfoxide in Persons with Familial Alzheimer’s Disease Mutations (2012) (23)
- Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants (2019) (23)
- Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia (2018) (23)
- Interferon-β treatment decreases cholesterol plasma levels in multiple sclerosis patients (2004) (23)
- Gyrification abnormalities in presymptomatic c9orf72 expansion carriers (2019) (22)
- C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia (2012) (22)
- Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort (2020) (22)
- Functional regulatory variants implicate distinct transcriptional networks in dementia (2021) (22)
- Variable Phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian Family (2003) (22)
- Enhanced Neuronal Regeneration in the CAST/Ei Mouse Strain Is Linked to Expression of Differentiation Markers after Injury. (2017) (22)
- Wnt11 regulates cardiac chamber development and disease during perinatal maturation. (2017) (22)
- Adult rat myelin enhances axonal outgrowth from neural stem cells (2018) (21)
- Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study. (1999) (21)
- Familial cortical myoclonus with a mutation in NOL3 (2012) (21)
- Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures (2018) (21)
- A molecular cascade modulates MAP1B and confers resistance to mTOR inhibition in human glioblastoma (2018) (20)
- First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: An exome analysis study (2015) (20)
- Why do some Friedreich’s ataxia patients retain tendon reflexes? (1999) (19)
- Transcriptomics and the mechanisms of antidepressant efficacy (2016) (19)
- Genome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy (2019) (19)
- Interferon-beta treatment decreases cholesterol plasma levels in multiple sclerosis patients. (2004) (18)
- Validation of AIDA Cefalee, a computer-assisted diagnosis database for the management of headache patients (2007) (18)
- Rates of lobar atrophy in asymptomatic MAPT mutation carriers (2019) (18)
- Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint (2019) (18)
- Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint (2019) (18)
- Genomic medicine enters the neurology clinic (2012) (17)
- White Matter Stroke Induces a Unique Oligo-Astrocyte Niche That Inhibits Recovery (2019) (17)
- Translatome Regulation in Neuronal Injury and Axon Regrowth (2018) (17)
- Regional association of pCASL-MRI with FDG-PET and PiB-PET in people at risk for autosomal dominant Alzheimer's disease (2017) (17)
- Suberoylanilide hydroxamic acid increases progranulin production in iPSC-derived cortical neurons of frontotemporal dementia patients (2016) (16)
- Age- and stress-associated C. elegans granulins impair lysosomal function and induce a compensatory HLH-30/TFEB transcriptional response (2019) (16)
- ForestQC: Quality control on genetic variants from next-generation sequencing data using random forest (2018) (15)
- Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. (2016) (15)
- Progranulin levels in blood in Alzheimer's disease and mild cognitive impairment (2018) (15)
- ATF 4 Is an Oxidative Stress – Inducible , Prodeath Transcription Factor in Neurons in Vitro and in Vivo Philipp (2018) (15)
- Brain calcifications and PCDH12 variants (2017) (15)
- Regeneration Enhances Metastasis: A Novel Role for Neurovascular Signaling in Promoting Melanoma Brain Metastasis (2019) (15)
- AMYLOID IN DEMENTIA ASSOCIATED WITH FAMILIAL FTLD: NOT AN INNOCENT BYSTANDER (2014) (14)
- Genetic modifiers of cognitive maintenance among older adults (2014) (14)
- Epigenetic clock and methylation studies in vervet monkeys (2020) (14)
- A human neuron injury model for molecular studies of axonal regeneration (2010) (14)
- Nonlinear Z-score modeling for improved detection of cognitive abnormality (2019) (14)
- Longitudinal change in CSF biomarkers in a presymptomatic carrier of an APP mutation (2011) (14)
- Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family (2019) (14)
- Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals (2020) (14)
- Bioinformatics and genomic databases. (2018) (14)
- Familial language network vulnerability in primary progressive aphasia (2020) (13)
- Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers (2019) (13)
- Frontotemporal dementia spectrum: first genetic screen in a Greek cohort (2019) (13)
- MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk (2020) (13)
- A Ca2+-Dependent Switch Activates Axonal Casein Kinase 2α Translation and Drives G3BP1 Granule Disassembly for Axon Regeneration (2020) (13)
- Expanding the global prevalence of spinocerebellar ataxia type 42 (2018) (13)
- A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman. (2014) (13)
- Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes (2021) (13)
- Single-cell in situ transcriptomic map of astrocyte cortical layer diversity (2018) (13)
- Forward Genetic Screen in Caenorhabditis elegans Suggests F57A10.2 and acp-4 As Suppressors of C9ORF72 Related Phenotypes (2016) (13)
- Association of Cognitive and Behavioral Features Between Adults With Tuberous Sclerosis and Frontotemporal Dementia. (2019) (12)
- Apolipoprotein ε4 Is Associated with Lower Brain Volume in Cognitively Normal Chinese but Not White Older Adults (2015) (12)
- Brain volumetric deficits in MAPT mutation carriers: a multisite study (2020) (12)
- Mixed TDP-43 proteinopathy and tauopathy in frontotemporal lobar degeneration: nine case series (2018) (12)
- Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia (2017) (11)
- Carotid atherosclerosis and ischemic stroke in young patients. (2002) (11)
- Inhibition of Nucleotide Synthesis Targets Brain Tumor Stem Cells in a Subset of Glioblastoma (2016) (11)
- GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms (2020) (11)
- High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease (2022) (11)
- Widespread white matter and conduction defects in PSEN1-related spastic paraparesis (2016) (11)
- Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer's Disease. (2017) (11)
- CRISPR-Cas9 targeted deletion of the C9orf72 repeat expansion mutation corrects cellular phenotypes in patient-derived iPS cells (2016) (11)
- IAPP-induced beta cell stress recapitulates the islet transcriptome in type 2 diabetes (2021) (11)
- The OMICs : applications in neuroscience (2013) (11)
- Uninterrupted CAG repeat drives striatum-selective transcriptionopathy and nuclear pathogenesis in human Huntingtin BAC mice (2022) (11)
- The glycine arginine‐rich domain of the RNA‐binding protein nucleolin regulates its subcellular localization (2021) (10)
- Revised Self-Monitoring Scale (2020) (10)
- Microarrays and the microscope: balancing throughput with resolution (2006) (10)
- Longitudinal RNA-Seq analysis of acute and chronic neurogenic skeletal muscle atrophy (2019) (10)
- hnRNPs Interacting with mRNA Localization Motifs Define AxoNAl RNA Regulons. (2018) (10)
- Technology Insight: querying the genome with microarrays—progress and hope for neurological disease (2006) (10)
- Identification of an Efficient Gene Expression Panel for Glioblastoma Classification (2016) (10)
- Neurodegenerative Disease Caregivers' 5-HTTLPR Genotype Moderates the Effect of Patients' Empathic Accuracy Deficits on Caregivers' Well-Being. (2019) (10)
- Topoisomerase I inhibition and peripheral nerve injury induce DNA breaks and ATF3-associated axon regeneration in sensory neurons (2021) (10)
- Lipocalin 2 is a Choroid Plexus Acute-Phase Protein (2013) (10)
- Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer’s disease (2017) (9)
- hnRNPs Interacting with mRNA Localization Motifs Define Axonal RNA Regulons* (2018) (9)
- ERAP1, ERAP2, and Two Copies of HLA-Aw19 Alleles Increase the Risk for Birdshot Chorioretinopathy in HLA-A29 Carriers (2021) (9)
- GADD45A is a protective modifier of neurogenic skeletal muscle atrophy (2021) (9)
- Gene-environment regulatory circuits of right ventricular pathology in tetralogy of fallot (2019) (9)
- Conformation-Dependent Oligomers in Cerebrospinal Fluid of Presymptomatic Familial Alzheimer's Disease Mutation Carriers (2012) (9)
- Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation (2005) (9)
- Genetic variation and gene expression across multiple tissues and developmental stages in a non-human primate (2016) (8)
- Nationwide study of hospitalization and surgical treatment for childhood strabismus in Italy between 1999 and 2004 (2009) (8)
- DYNLRB1 is essential for dynein mediated transport and neuronal survival (2019) (8)
- Elevated Common Variant Genetic Risk for Tourette Syndrome in a Densely Affected Pedigree (2021) (7)
- Young‐onset frontotemporal dementia in a homozygous tau R406W mutation carrier (2015) (7)
- De Novo Coding Variants Are Strongly Associated with Tourette Syndrome (2019) (7)
- Lack of Association Between the CCR5-delta32 Polymorphism and Neurodegenerative Disorders (2020) (7)
- Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort (2020) (7)
- Low doses of TRH in amyotrophic lateral sclerosis and in other neurological diseases (1991) (7)
- Selective axonal translation of prenylated Cdc42 mRNA isoform supports axon growth. (2021) (7)
- The 5-HTTLPR variant in the serotonin transporter gene modifies degeneration of brain regions important for emotion in behavioral variant frontotemporal dementia (2015) (7)
- Combined Pathologies in FTLD-TDP Types A and C (2018) (7)
- Analysis of polymorphism based on SSCP markers in gamma-irradiated (Co60) grape (Vitis vinifera) varieties. (2010) (6)
- Characterization of Expression Quantitative Trait Loci in Pedigrees from Colombia and Costa Rica Ascertained for Bipolar Disorder (2016) (6)
- In the setting of β-cell stress, the pancreatic duct gland transcriptome shows characteristics of an activated regenerative response. (2018) (6)
- Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts. (2018) (6)
- Systems-level analysis of peripheral blood gene expression in dementia patients reveals an innate immune response shared across multiple disorders (2019) (6)
- Progressive supranuclear palsy: analysis of six cases (2003) (6)
- Precision genome-editing with CRISPR/Cas9 in human induced pluripotent stem cells (2017) (6)
- Altered expression of genes regulating inflammation and synaptogenesis during regrowth of afferent neurons to cochlear hair cells (2020) (5)
- Reaction time and response inhibition in autosomal dominant Alzheimer’s disease (2020) (5)
- Comprehensive cross-sectional and longitudinal analyses of plasma neurofilament light across FTD spectrum disorders (2022) (5)
- Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? (2018) (5)
- Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders (2019) (5)
- Effect of diabetes on some primitive reflexes (2000) (5)
- HDinHD: A Rich Data Portal for Huntington's Disease Research. (2021) (5)
- Insights into Gene Expression of Activated Pathogenic Autoimmune T Cells - Studies in Experimental Multiple Sclerosis-like Model (2016) (5)
- Impairment of memory generalization in preclinical autosomal dominant Alzheimer's disease mutation carriers (2018) (5)
- A multicenter Italian randomised study on early treatment of Parkinson disease: comparison of 1-dopa, 1-deprenyl and dopaminoagonists. Study design and short term results (1992) (4)
- Selective axonal translation of prenylated Cdc42 mRNA isoform supports axon growth (2018) (4)
- Design, Characterization, and Use of a Novel Amyloid β-Protein Control for Assembly, Neurotoxicity, and Gene Expression Studies. (2016) (4)
- AD-linked R47H-TREM2 mutation induces disease-enhancing proinflammatory microglial states in mice and humans (2020) (4)
- Time Course of Changes in Peripheral Blood Gene Expression During Medication Treatment for Major Depressive Disorder (2019) (4)
- ASLPrep: a platform for processing of arterial spin labeled MRI and quantification of regional brain perfusion (2022) (4)
- Mutations in PDYN are not responsible for multiple system atrophy (2013) (4)
- Establishment of a Human Induced Pluripotent Stem Cell-Derived Neuromuscular Co-Culture Under Optogenetic Control (2020) (4)
- Crossed and uncrossed visual pathways are impaired differently in open angle glaucoma patients. (2002) (4)
- Impaired Neural Conduction in Crossed Visual Pathways in Patients with Ocular Hypertension (2002) (4)
- Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification (2013) (4)
- Temporal order of clinical and biomarker changes in familial frontotemporal dementia (2022) (4)
- Exome sequencing and characterization of 49,960 individuals in the UK Biobank (2020) (4)
- The first genome sequence of an elite grapevine cultivar (Pinot noir; Vitis vinifera L.): coping wit (2006) (4)
- Selective axonal translation of the mRNA isoform encoding prenylated Cdc42 supports axon growth (2021) (4)
- Dopamine receptor D4 (DRD4) polymorphisms with reduced functional potency intensify atrophy in syndrome-specific sites of frontotemporal dementia (2019) (4)
- A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus (2019) (3)
- Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study. (2021) (3)
- Robust Axonal Regeneration Occurs in the Injured CAST/Ei Mouse CNS (2016) (3)
- Comparative effects of mesoglycan and ticlopidine treatment on some coagulative parameters in patients with previous ischemic stroke: results of a randomized controlled trial (2002) (3)
- The burden of deleterious variants in a non-human primate biomedical model (2019) (3)
- Co-expression networks in generation of induced pluripotent stem cells (2014) (3)
- Clinically relevant small-molecule promotes nerve repair and visual function recovery (2022) (3)
- Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARg pathway as a therapeutic target in Friedreich’s ataxia (2009) (3)
- Corrections to "Robust Axonal Regeneration Occurs in the Injured CAST/Ei Mouse CNS"[Neuron 86, 1215-1227; June 3, 2015] (2016) (3)
- ------------------------------------------------------------------------------------------------------------Modulation of default mode network activity by the knowledge of observation (2013) (3)
- Early-onset Alzheimer’s disease versus frontotemporal dementia: resolution with genetic diagnoses? (2016) (3)
- Cortical and subcortical pathological burden and neuronal loss in an autopsy series of FTLD-TDP-type C. (2021) (3)
- Temporal variant of frontotemporal dementia in C9orf72 repeat expansion carriers: two case studies (2020) (2)
- Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 CNV Mediated Risk for Neuropsychiatric Disorders (2019) (2)
- Genetic and functional analysis of a Pacific hagfish opioid system (2020) (2)
- TOMM40 rs2075650, TOMM40 rs157580 and TOMM40 PolyT Polymorphism Effects on Ventricular Enlargement in Individuals with and Without Mild Cognitive Impairment (2011) (2)
- Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation (2016) (2)
- NONLINEAR N-SCORE ESTIMATION FOR ESTABLISHING COGNITIVE NORMS FROM THE NATIONAL ALZHEIMER’S COORDINATING CENTER (NACC) DATASET (2018) (2)
- Epigenetics of Alzheimer’s Disease and Frontotemporal Dementia (2013) (2)
- FINE-MAPPING OF THE HUMAN LEUKOCYTE ANTIGEN (HLA) LOCUS AS A RISK FACTOR FOR ALZHEIMER'S DISEASE (2017) (2)
- Elk-1 regulates retinal ganglion cell axon regeneration after injury (2022) (2)
- miR-142-3p Regulates Cortical Oligodendrocyte Gene Co-expression Networks Associated with Tauopathy. (2021) (2)
- Molecular and functional properties of PFC astrocytes during neuroinflammation-induced anhedonia (2020) (1)
- Biochemical Parameters Alterations in Multiple Sclerosis: A Longitudinal Study and Review of the Literature (2012) (1)
- Primary brain calcification: an international study reporting novel variants and associated phenotypes (2018) (1)
- Enhanced neuronal regeneration in the CAST/Ei mouse strain is linked to expression of differentiation markers after injury (2017) (1)
- Immunosuppressive effect and global dysregulation of blood transcriptome in response to psychosocial stress in vervet monkeys (Chlorocebus sabaeus) (2020) (1)
- Penetrating Keratoplasty in a Newborn: Case Report and Analysis of Current Surgical Trends in Italy (2008) (1)
- Tau interactome mapping reveals dynamic processes in synapses and mitochondria associated with neurodegenerative disease (2021) (1)
- Characteristics and Progress on 312 Subjects in the Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) Protocol (P3.036) (2018) (1)
- Remote blood collection from older adults in the Brain Health Registry for plasma biomarker and genetic analysis (2022) (1)
- Expression and network analysis of Illumina microarray data (2009) (1)
- Neuropsychiatric Features of C9ORF72 Mutation-Associated bvFTD and FTD-ALS (S44.004) (2012) (1)
- ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma (2022) (1)
- Epidemiological of Strabismus Study in Italy Between 1999 and 2003 (2007) (1)
- Gender Modulates the APOE 4 Effect in Healthy Older Controls: Convergent Evidence from Functional Brain Connectivity and Spinal Fluid Tau Levels (P03.080) (2012) (1)
- A tensor-based morphometry study of brain volume changes in symptomatic and pre-symptomatic patients with familial Alzheimer's disease (2010) (1)
- Methionine sulfoxide, an index of oxidative stress, measured in plasma of persons with familial Alzheimer's disease mutations (2010) (1)
- Publisher Correction: Ancient hybridization and strong adaptation to viruses across African vervet monkey populations (2018) (1)
- AMultiancestral Genome-Wide Exome Array Study of Alzheimer Disease , Frontotemporal Dementia , and Progressive Supranuclear Palsy (2015) (1)
- Advancing research and treatment of frontotemporal lobar degeneration (ARTFL): Preparing for clinical trials for ftld in north america (2015) (1)
- A molecular interactome of the glioblastoma perivascular niche reveals integrin binding sialoprotein as a mediator of tumor cell migration (2022) (1)
- Title Rare TREM 2 variants associated with Alzheimer ' s disease display reduced cell surface expression Permalink (2016) (1)
- Nationwide trends in hospitalization and surgical treatment of congenital and infantile cataract among italian children 4 years and younger. (2009) (1)
- Title Inhibition of transglutaminase 2 mitigates transcriptional dysregulation in models of Huntington ' s disease (2010) (1)
- Collaborative Genome-Wide Association and Copy Number Variation Analysis of Tourette Syndrome (2019) (1)
- C. elegans granulins promote an age-associated decline in protein homeostasis via lysosomal protease inhibition (2018) (1)
- Microtubule-associated protein tau H2 haplotype is associated with frontotemporal atrophy in cognitively normal elders (2012) (1)
- Reduced amyloid deposition and greater hypometabolism in people with Alzheimer's disease who are APOE-ε4–positive (2013) (1)
- CHARACTERISTICS AND PROGRESS ON THE INITIAL 209 SUBJECTS IN THE LONGITUDINAL EVALUATION OF FAMILIAL FRONTOTEMPORAL DEMENTIA SUBJECTS (LEFFTDS) PROTOCOL (2017) (1)
- INDIVIDUALS WITH BDNF VAL66MET POLYMORPHISM SHOW LOWER TAU BURDEN AT MATCHED COGNITIVE IMPAIRMENT IN ALZHEIMER’S DISEASE (2019) (0)
- CORRELATION ANALYSIS IDENTIFIES SHARED AND DISTINCT GENETIC ARCHITECTURE OF LATE-ONSET ALZHEIMER’S DISEASE AND AMYOTROPHIC LATERAL SCLEROSIS (2017) (0)
- Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2020) (0)
- Transcriptional profiling of isogenic Friedreich ataxia induced pluripotent stem cell-derived neurons (2018) (0)
- Rare TREM2 variants associated with Alzheimer’s disease display reduced cell surface expression (2016) (0)
- A dense SNP-based genetic linkage map of grapevine (Vitis Vinifera L.) anchored to the sequenced gen (2007) (0)
- Data for: Benign Hereditary Chorea and deletions outside NKX2-1: what’s the role of MBIP? (2018) (0)
- Table 4. [Pathogenic Allelic Variants Discussed in This GeneReview]. (2014) (0)
- P1-140 SOLUBLE BACE ACTIVITYAND SAPPb LEVELS DO NOT DIFFERENTIATE ALZHEIMER’S DISEASE AND AGE-MATCHED CONTROL CEREBROSPINAL FLUID IN THEADNI-1 COHORT (2013) (0)
- IDENTIFICATION OF AN ITGA7 VARIANT ASSOCIATED WITH ALZHEIMER’S DISEASE AND MULTIPLE OTHER NEURODEGENERATIVE DISEASES (2017) (0)
- UNDERSTANDING THE PATHWAYS THAT LEAD TO NERVE CELL DEATH IN HUNTINGTON’S DISEASE (2014) (0)
- AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE ARISING FROM A NOVEL TRUNCATION MUTATION IN PSEN1 (2019) (0)
- Clinical and Quantitative Fluorodeoxyglucose Positron Emission Tomography in Pre- and Symptomatic Persons Inheriting Familial Alzheimer's Disease Mutations (2010) (0)
- F.24. Longitudinal System-based Analysis Uncovers Both General and Specific Transcriptional Responses to Type I Interferons (2009) (0)
- Abstract 82: Wnt11 Regulates Chamber Specific Neonatal Cardiomyocyte Proliferation During Perinatal Circulatory Transition (2017) (0)
- ADVANCING RESEARCH AND TREATMENT IN FRONTOTEMPORAL LOBAR DEGENERATION (ARTFL) NORTH AMERICAN RARE DISEASE CLINICAL RESEARCH CONSORTIUM: PROGRESS AND CHARACTERIZATION OF INITIAL PARTICIPANTS (2017) (0)
- CHARACTERISTICS AND PROGRESS OF 320 SUBJECTS IN THE LONGITUDINAL EVALUATION OF FAMILIAL FRONTOTEMPORAL DEMENTIA SUBJECTS (LEFFTDS) PROTOCOL (2018) (0)
- Abstract 5607: TLE4 is a key modulator of resistance to mTOR pathway specific inhibition in glioblastoma (2012) (0)
- Common Variants in ABCA7, MS4A6A, and PICALM Are Associated with Cortical Atrophy (PD5.001) (2013) (0)
- CSIG-16. RECONCILING TUMOR HETEROGENEITY IN GLIOBLASTOMA USING A PATHWAY-BASED APPROACH (2019) (0)
- TMOD-15. SPATIOTEMPORAL LOSS OF SMARCB1 IN EARLY NEURAL CREST LINEAGE LEADS TO DIFFERENT MOLECULAR SUBTYPES OF RHABDOID TUMORS (2019) (0)
- Type 2 Diabetes is a Beta Cell Protein Misfolding Disease (2020) (0)
- STOP-GAIN VARIANT IN MICROGLIA-EXPRESSED GENE GMIP IS ASSOCIATED WITH EARLY-ONSET ALZHEIMER’S DISEASE (2018) (0)
- Differential Effect of the C9ORF72 Hexanucleotide Repeat on Brain Morphology in bvFTD and FTD-ALS (S34.005) (2012) (0)
- Disruption of RNA Processing in Pontocerebellar Hypoplasia with Spinal Muscular Atrophy (PCH1B) (P05.047) (2013) (0)
- CSF proteomic discovery in persons with autosomal dominant Alzheimer's disease mutations (2015) (0)
- Podium Presentations: Thursday, July 23, 2015 P326 O5-05-03 NEUROGRANIN, A CSF BIOMARKER FOR SYNAPTIC LOSS, PREDICTS DECLINE TO DEMENTIA DUE TO ALZHEIMER’S DISEASE (2015) (0)
- Abstract 4208: Suppressor of Cytokine Signaling (SOCS)-3 and the C-X-C chemokines CXCL1 and CXCL2 promote tumor aggessiveness and radiation resistance in pancreatic cancer (2014) (0)
- EFFECTS ON VENTRICULAR ENLARGEMENT WHEN COMPARING COGNITIVELY NORMAL ELDERLY AND PEOPLE WITH AMNESTIC AND NONAMNESTIC MILD COGNITIVE IMPAIRMENT (2014) (0)
- Automated Diagnostic Classifiers Using Imaging, Genotyping, and Gene Expression Data (2011) (0)
- Neuropsychological performance and demographic variables predict familial Alzheimer genetic status in a Spanish speaking sample (2010) (0)
- PHENOCONVERSION FROM ASYMPTOMATIC TO MINIMALLY SYMPTOMATIC FTLD: PRELIMINARY DATA IN THE LEFFTDS COHORT (2017) (0)
- Differential Effect of the 5-HTTLPR Short Allele on Brain Morphology in bvFTD (P05.076) (2012) (0)
- Restorative effects of BDNF gene delivery into entorhinal cortex in APP transgenic mice (2009) (0)
- [Muscle weakness]. (2003) (0)
- Clinical and quantitative fluorodeoxyglucose positron emission tomography in presymptomatic and symptomatic persons inheriting familial Alzheimer's disease mutations (2010) (0)
- Pathways and gene networks mediating the regulatory effects of cannabidiol, a nonpsychoactive cannabinoid, in autoimmune T cells (2016) (0)
- and pathway analysis reveal distinct mechanisms underlying cannabinoid-mediated modulation of LPS-induced activation of BV-2 microglial cells. (2013) (0)
- Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants (2019) (0)
- DIFFERENCES BETWEEN SPORADIC AND FAMILIAL BEHAVIORAL VARIANT FTD IN ADVANCING RESEARCH AND TREATMENT FOR FTLD (ARTFL) CLINICAL RESEARCH CONSORTIUM (2018) (0)
- CSIG-22. RECONCILING TUMOR HETEROGENEITY IN GLIOBLASTOMA USING A PATHWAY-BASED APPROACH (2018) (0)
- Mitochondria-Targeted Cholesterol Oximes Increase Dopamine-Related Gene Expression and Behavior in Mice Over-Expressing Alpha-Synuclein, a Model of Pre-Manifest Parkinson’s Disease (2014) (0)
- PTBP1 Regulates Injury Responses and Sensory Pathways in Adult Peripheral Neurons (2020) (0)
- Effects of HDAC inhibitor 106 on frataxin mRNA and protein levels and on histone acetylation in KIKI mice. (2008) (0)
- Cannabidiol effects on mRNA levels and signaling pathways in MOG-35–55 activated encephalitogenic T cells (2014) (0)
- A Rare Mutation of bAdr 1 energic Receptor Affects Sleep / Wake Behaviors Highlights (2019) (0)
- DT MRI Reveals Widespread White Matter Changes Associated with C9ORF72 Hexanucleotide Expansion (P05.104) (2013) (0)
- Genetic and Functional Characterization of ANGPTL7 as a Therapeutic Target for Glaucoma (2021) (0)
- Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression (2021) (0)
- Adjuvant Rehabilitation Treatment in Patients With Orbital Fracture and Restrictive Syndrome With Diplopia After Maxillofacial Surgery (2006) (0)
- M63 CHARACTERIZING PERIPHERAL BLOOD TRANSCRIPTOME DYSREGULATION ASSOCIATED WITH RECURRENT COPY NUMBER VARIATIONS AT THE 22Q11.2 LOCUS (2019) (0)
- University of Groningen De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Tourette (2018) (0)
- Correction: Sleiman et al., Hydroxamic Acid-Based Histone Deacetylase (HDAC) Inhibitors Can Mediate Neuroprotection Independent of HDAC Inhibition (2015) (0)
- Disassembly of Axonal G3BP1 Aggregates by a Casein Kinase 2α mRNA Translational Switch (2019) (0)
- Longitudinal RNA-Seq analysis of acute and chronic neurogenic skeletal muscle atrophy (2019) (0)
- A gene co-expression module in peripheral blood correlates with hippocampal atrophy in elderly subjects (2013) (0)
- Title Human iPSC-Derived Neuronal Model of TauA 152 T Frontotemporal Dementia Reveals Tau-Mediated Mechanisms of Neuronal Vulnerability Permalink (0)
- DOES APOE ε4 HAVE AN Aβ-INDEPENDENT EFFECT ON TAU PATHOLOGY? NEUROIMAGING INVESTIGATIONS IN COGNITIVELY NORMAL ELDERS AND PATIENTS WITH ALZHEIMER’S DISEASE (2017) (0)
- AWARENESS OF MUTATION STATUS IN PERSONS AT RISK FOR FAMILIAL ALZHEIMER’S DISEASE (2017) (0)
- Title Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation Permalink (2016) (0)
- [Carotid atherosclerosis and juvenile stroke. First results of a longitudinal study]. (1999) (0)
- Systemic klotho is associated with KLOTHO variation and predicts intrinsic cortical connectivity in healthy human aging (2016) (0)
- Fixation of extraocular muscles in the rabbit by means of a cyanoacrylate adhesive (2002) (0)
- A gene coexpression module in peripheral blood correlates with hippocampal atrophy in elderly individuals (2013) (0)
- TRACKING WHITE MATTER DEGENERATION IN ASYMPTOMATIC AND SYMPTOMATIC MAPT MUTATION CARRIERS WITH DTI (2019) (0)
- TMIC-36. CROSSTALK OF GLIOMA STEM CELLS WITH VASCULAR ENDOTHELIAL CELLS PERSISTS THEIR PRONEURAL PHENOTYPE AND THERAPY RESISTANCE VIA ENDOCAN-CD11A INTERACTION (2017) (0)
- DOES APOE-ε4 HAVE AN Aβ-INDEPENDENT EFFECT ON TAU PATHOLOGY? NEUROIMAGING INVESTIGATIONS IN COGNITIVELY NORMAL ELDERS AND PATIENTS WITH ALZHEIMER’S DISEASE (2017) (0)
- Chronic Pain States Are Associated with a Common Allele in the Potassium Channel Subunit KCNS1 (2010) (0)
- Abstract A10: Suppressor of cytokine signaling (SOCS)-3 and the C-X-C chemokines CXCL1 and CXCL2 promote tumor aggressiveness and radiation resistance in pancreatic cancer (2014) (0)
- Inflammation Altered Iron Metabolism Is Part of the Choroid Plexus Response to Peripheral (2009) (0)
- DOES APOE-ε4 HAVE AN Aβ-INDEPENDENT EFFECT ON TAU PATHOLOGY? NEUROIMAGING INVESTIGATIONS IN COGNITIVELY NORMAL ELDERS AND PATIENTS WITH ALZHEIMER’S DISEASE (2017) (0)
- Abstract 447: The IDH1 mutation in human glioblastoma and its effects on epigenetic modification and cell fate selection (2014) (0)
- TMIC-11NOVEL ANGIOCRINE CANDIDATES IN GLIOBLASTOMA PROGENITOR CELL PERIVASCULAR NICHE INTERACTIONS (2015) (0)
- 24. WHOLE EXOME SEQUENCING META-ANALYSIS OF DEPRESSION SUGGESTS SUBTLE ROLE FOR FUNCTIONAL VARIANTS IN KNOWN GENETIC ASSOCIATION LOCI (2021) (0)
- Correction (2002) (0)
- The Phenotype of the Hexanucleotide Repeat C9FTD/ALS (C9ORF72) (P05.060) (2012) (0)
- Evaluation and Comparison of RAVNO and Two Different Volumetric Neuroimaging Methods to Assess Therapeutic Response of Brain Tumours in Veterinary Patients (2018) (0)
- T55SYNAPTIC AND GENE REGULATORY MECHANISMS IN SCHIZOPHRENIA, AUTISM, AND 22Q11.2 CNV MEDIATED RISK FOR NEUROPSYCHIATRIC DISORDERS (2019) (0)
- Precipitous Deterioration of Motor Function, Cognition, and Behavior (2017) (0)
- C9ORF72 Mutations in Two Patients with Slowly Progressive bvFTD "Phenocopy" (S54.006) (2012) (0)
- Table 3. [PDGFRB Pathogenic Allelic Variants Discussed in This GeneReview]. (2014) (0)
- Attention and working memory in familial Alzheimer's disease (2010) (0)
- A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques (2015) (0)
- enzyme-linked immunosorbent NONLINEAR N-SCORE ESTIMATION FOR ESTABLISHING COGNITIVE NORMS FROM (2018) (0)
- AD-Linked TREM2 Mutation Induces Unique Microglial States Associated with Toxic Function in Tauopathy (2019) (0)
- Multiple sclerosis and iron homeostasis (2012) (0)
- 1451 GENOME-WIDE EXPRESSION PROFILING OF CASTRATION-RESISTANT PROSTATE CANCER XENOGRAFTS IN THE BONE-NICHE REVEALED UP-REGULATION OF THE ANTI-APOPTOSIS GENE, YWHAZ, A NETWORK MODULE HUB GENE (2011) (0)
- Gyrification abnormalities in presymptomatic expansion carriers. (2019) (0)
- Table 2. [SLC20A2 Pathogenic Allelic Variants Discussed in This GeneReview]. (2014) (0)
- Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development (2017) (0)
- No Evidence to Suggest that the Use of Acetylcholinesterase Inhibitors Confounds the Results of Two Blood-Based Biomarker Studies in Alzheimer's Disease. (2015) (0)
- TOMM40 rs2075650, TOMM40 rs157580 and TOMM40 PolyT polymorphism effects on ventricular enlargement in individuals with and without mild cognitive impairment (2011) (0)
- FRONTOTEMPORAL LOBAR DEGENERATION RESEARCH IN NORTH AMERICA: PROGRESS IN THE ARTFL/LEFFTDS CONSORTIA (2019) (0)
- Correction: Sleiman et al., Mithramycin Is a Gene-Selective Sp1 Inhibitor That Identifies a Biological Intersection between Cancer and Neurodegeneration (2012) (0)
- Impaired Generalization of Acquired Memory Pairings in Preclinical Familial Alzheimer's Disease (FAD) Mutation Carriers (P07.139) (2013) (0)
- Generation and post-injury integration of human spinal cord neural stem cells (2018) (0)
- is an oxidative stress-inducible, prodeath transcription factor in neurons in vitro and in vivo. (2008) (0)
- Generation of a molecular interactome of the glioblastoma perivascular niche reveals Integrin Binding Sialoprotein as a key mediator of tumor cell migration (2021) (0)
- Frequency of FTLD Mutations in a Commercial Laboratory Versus a Specialty Clinic (P4.036) (2016) (0)
- Historical Migration revealed through a Case of Autosomal Dominant Alzheimer's Disease. (2019) (0)
- Growth factor gene delivery for Alzheimer's disease: from animal models to clinical trials (2009) (0)
- Diagnostic value of plasma P‐tau217 in frontotemporal dementia spectrum disorders (2021) (0)
- Protein co-expression network analysis in Alzheimer’s disease (2015) (0)
- Title Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer ' s disease (2015) (0)
- Plasma Neuro fi lament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration (0)
- THE MULTIDOMAIN IMPAIRMENT RATING (MIR) SCALE: INITIAL RELIABILITY DATA ON A MULTIDIMENSIONAL SCALE DESIGNED FOR FTLD SPECTRUM DISORDERS (2019) (0)
- Characterization of expression quantitative trait loci in extensively phenotyped pedigrees ascertained for bipolar disorder (2015) (0)
- Additional file 1: Table S1. of Rare TREM2 variants associated with Alzheimerâ s disease display reduced cell surface expression (2016) (0)
- Gene expression correlates of hippocampal atrophy across in cognitively normal elderly and MCI (2010) (0)
- A novel mutation in the first transmembrane portion of PSEN1 causing young-onset Alzheimer’s disease (2015) (0)
- EFFECTS ON VENTRICULAR ENLARGEMENT WHEN COMPARING COGNITIVELY NORMAL ELDERLY, MILD COGNITIVE IMPAIRMENT WITH ALZHEIMER'S DISEASE SUBJECTS (2009) (0)
- THE NIH-EXAMINER IS SENSITIVE TO COGNITIVE CHANGES IN ASYMPTOMATIC AND MILDLY SYMPTOMATIC FAMILIAL FRONTOTEMPORAL DEMENTIA (2018) (0)
- PM445. A family of primary familial brain calcification due to mutation in platelet-derived growth factor-B gene (2016) (0)
- Microtubule-associated protein tau H2 haplotype is associated with frontotemporal atrophy in cognitively normal elders (2012) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in PFBC]. (2014) (0)
- USING A BRAIN NETWORK APPROACH TO PREDICT GENETIC MUTATION IN INDIVIDUAL PATIENTS WITH FAMILIAL FRONTOTEMPORAL DEMENTIA (2018) (0)
- A blood gene expression biomarker of early Alzheimer's disease (2011) (0)
- The Advancing Research and Treatment in Frontotemporal Lobar Degeneration (ARTFL) North American Rare Disease Clinical Research Consortium: Progress and Participant Characterization (S2.008) (2018) (0)
- Activity-Dependent Regulation of Alternative Cleavage and Polyadenylation During Hippocampal Long-Term Potentiation (2017) (0)
- Analysis of polymorphism based on SSCP markers in gamma-irradiated (Co 60 ) grape (2010) (0)
- Reduced amyloid deposition and greater hypometabolism in APOE-ε4-positive Alzheimer’s disease patients (2013) (0)
- Rare coding variants in CHRNB2 reduce the likelihood of smoking (2022) (0)
- Profiling of Peripheral Blood in Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder. (2015) (0)
- Title Linking tuberous sclerosis complex , excessive mTOR signaling , and age-related neurodegeneration : a new association between TSC 1 mutation and frontotemporal dementia (2017) (0)
- Whole-genome sequencing suggests a chemokine gene cluster that modi fi es age at onset in familial Alzheimer's disease (2015) (0)
- Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome (2022) (0)
- Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family (2019) (0)
- 47. EXOME-WIDE ASSOCIATION STUDY IN ∼750,000 INDIVIDUALS IDENTIFIES CHRNB2 AS A POTENTIAL DRUG TARGET FOR SMOKING (2022) (0)
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis (2020) (0)
- Imaging Genetics of Neuropsychiatric Disease (2015) (0)
- 18F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes (2019) (0)
- Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases (2018) (0)
- Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome (2023) (0)
- Transcriptomic Profiling of Peripheral Blood in 22q11.2 Reciprocal Copy Number Variants: Differential Cell Proportion Highly Impacts Gene Expression and Module Distinctions (2021) (0)
- P3-442 INDIVIDUALS WITH BDNF VAL66MET POLYMORPHISM SHOW LOWER TAU BURDEN AT MATCHED COGNITIVE IMPAIRMENT IN ALZHEIMER’S DISEASE (2019) (0)
- Cannabidiol, a non-psychoactive cannabinoid, leads to EGR2-dependent anergy in activated encephalitogenic T cells (2015) (0)
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure (2020) (0)
- Astrocyte layers in the mammalian cerebral cortex revealed by a single-cell in situ transcriptomic map (2020) (0)
- GRAY MATTER DEFICITS IN SYMPTOMATIC AND PRESYMPTOMATIC MAPT MUTATION CARRIERS (2018) (0)
- Diagnostic value of plasma phosphorylated tau181 in Alzheimer’s disease and frontotemporal lobar degeneration (2020) (0)
- Injured adult neurons regress to an embryonic transcriptional growth state (2020) (0)
- Required growth facilitators propel axon regeneration across complete spinal cord injury (2018) (0)
- CREB controls cortical circuit plasticity and functional recovery after stroke (2018) (0)
- Genetic prion disease caused by a Q160X PRNP mutation presenting with an orbitofrontal syndrome (P4.100) (2015) (0)
- Cellular and Molecular Mechanisms of Sensitivity and Resistance of Hematopoietic Malignant Cells to Treatment with ch128.1Av, An Antibody-Avidin Fusion Protein Specific for Human Transferrin Receptor 1 (CD71). (2008) (0)
- Automated diagnostic classifiers for cognitively normal and mild cognitive impairment subjects using imaging, genotyping, and gene expression (2011) (0)
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What Schools Are Affiliated With Giovanni Coppola?
Giovanni Coppola is affiliated with the following schools: