Search Results - "Karle, N."
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Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Published in Annals of neurology (01-04-2016)“…Objective Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark of progressive spastic gait disturbance. To investigate the…”
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Systematic analysis of virga and its impact on surface particulate matter observations
Published in Atmospheric measurement techniques (02-03-2023)“…Studies focusing on virga are rare, even though it is a commonly occurring phenomenon. In this study, we investigated aerosol backscatter profiles from a…”
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3D MAPPING OF BURIED PIPES IN MULTI-CHANNEL GPR DATA
Published in International archives of the photogrammetry, remote sensing and spatial information sciences. (30-05-2022)“…Ground Penetrating Radar (GPR) allows a non-destructive analysis of the subsurface by using electromagnetic waves. GPR is used in application fields such as…”
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Electronic and Structural Properties of C60 and Sc3N@C80 Supported on Graphene Nanoflakes
Published in Journal of physical chemistry. C (17-11-2016)“…A theoretical study on the geometric and electronic structure of C60 and Sc3N@C80 absorbed on pristine graphene nanoflakes (GNFs) is presented. C60 is found to…”
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Reinterpreting Trends: The Impact of Methodological Changes on Reported Sea Salt Aerosol Levels
Published in Atmosphere (01-07-2024)“…Since 2017, there has been a considerable increase in the recorded sea salt aerosol (SSA) levels across the United States, particularly the economically…”
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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
Published in Orphanet journal of rare diseases (15-03-2013)“…Mutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive…”
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Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model
Published in PLoS genetics (01-11-2012)“…Hereditary spastic paraplegias (HSPs) comprise a group of genetically heterogeneous neurodegenerative disorders characterized by spastic weakness of the lower…”
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Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
Published in Brain (London, England : 1878) (01-08-2014)“…The genetic diagnosis in inherited optic neuropathies often remains challenging, and the emergence of complex neurological phenotypes that involve optic…”
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Environmental Assessment and Monitoring of Heavy Metals in New York City Potable Water Systems: Case Study at Medgar Evers College, Correlation Analysis, and Public Health Impacts
Published in Water (Basel) (01-12-2023)“…Reinforced by this study, New York City has one of the cleanest water systems in the world. Medgar Evers College (MEC) serves 7000 students/1050 faculty/staff…”
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Particulate Matter in the American Southwest: Detection and Analysis of Dust Storms Using Surface Measurements and Ground-Based LIDAR
Published in Atmosphere (01-01-2024)“…This research study focuses on the coupling between particulate matter and the planetary boundary layer. Particulate matter affects human health and it is a…”
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Socioeconomic and sociodemographic correlations to COVID-19 variability in the United States in 2020
Published in Frontiers in public health (2024)“…The COVID-19 pandemic provided an additional spotlight on the longstanding socioeconomic/health impacts of redlining and has added to the myriad of…”
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Winter and Wildfire Season Optical Characterization of Black and Brown Carbon in the El Paso-Ciudad Juárez Airshed
Published in Atmosphere (01-08-2022)“…Black (EBC) and Brown (BrC) Carbon are ubiquitous constituents of atmospheric particulate matter that affect people’s health, disrupt ecosystems, and modulate…”
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Multi-Scale Atmospheric Emissions, Circulation and Meteorological Drivers of Ozone Episodes in El Paso-Juárez Airshed
Published in Atmosphere (01-12-2021)“…Ozone pollution has been prevalent in the El Paso-Juárez Airshed (EPJA), especially in the past few decades, and it has been on the rise recently. The spatial…”
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14
DNA methylation signatures of chronic alcohol dependence in purified CD3+ T-cells of patients undergoing alcohol treatment
Published in Scientific reports (26-07-2017)“…Several studies have shown an association of alcohol dependence with DNA methylation (DNAm), suggesting that environmentally-induced changes on epigenomic…”
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Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
Published in Clinical genetics (01-08-2011)“…Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P. Amplicon‐based high‐throughput pooled sequencing identifies…”
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In Silico Docking and Admet Prediction of a Novel Antibacterial Derivatives (Schiff Base) Targeting Dihydropteroate Synthase (1aj2)
Published in Journal of pharmaceutical research (15-06-2024)“…Schiff base-containing (imine or azomethine–C=N–) derivatives have been investigated in relation to a broad range of activity, including antibacterial…”
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Investigation of the Successive Ozone Episodes in the El Paso–Juarez Region in the Summer of 2017
Published in Atmosphere (01-05-2020)“…The adjacent cities of El Paso in Texas, USA, and Juarez in Mexico commonly experience pollution episodes, especially during the summer months. In the summer…”
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Axonal transport deficit in a KIF5A–/– mouse model
Published in Neurogenetics (01-05-2012)“…Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder preferentially affecting the longest corticospinal axons. More than 40 HSP genetic loci…”
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Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)
Published in Journal of neurology (01-12-2014)“…Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disease caused by mutations within the colony stimulating…”
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A spastic paraplegia mouse model reveals REEP1-dependent ER shaping
Published in The Journal of clinical investigation (01-10-2013)“…Axonopathies are a group of clinically diverse disorders characterized by the progressive degeneration of the axons of specific neurons. In hereditary spastic…”
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