Browsing by Author "Betensky, Rebecca"

Now showing items 1-14 of 14

    • Application of futility analysis to refine jitter recordings in myasthenia gravis 

      Narayanaswami, Pushpa; Pantoja-Galicia, Norberto; Betensky, Rebecca Aubrey; Rutkove, Seward Brian (Wiley-Blackwell, 2012)
      Introduction The current practice of single fiber electromyography (SFEMG) requires that 20 fiber pairs with normal jitter be collected to exclude myasthenia gravis (MG). We applied principles of futility analysis from ...

    • Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV 

      Grishchuk, Yulia; Sri, Sarmi; Rudinskiy, Nikita; Ma, Weiyuan; Stember, Katherine G; Cottle, Matthew W; Sapp, Ellen; Difiglia, Marian; Muzikansky, Alona; Betensky, Rebecca A; Wong, Andrew M S; Bacskai, Brian J; Hyman, Bradley T; Kelleher, Raymond J; Cooper, Jonathan D; Slaugenhaupt, Susan A (BioMed Central, 2014)
      Mucolipidosis IV (MLIV) is caused by mutations in the gene MCOLN1. Patients with MLIV have severe neurologic deficits and very little is known about the brain pathology in this lysosomal disease. Using an accurate mouse ...

    • Calcineurin activation causes retinal ganglion cell degeneration 

      Qu, Juan; Matsouaka, Roland Albert; Betensky, Rebecca Aubrey; Hyman, Bradley Theodore; Grosskreutz, Cynthia Lee (Molecular Vision, 2012)
      Purpose: We previously reported that calcineurin, a Ca2+/calmodulin-dependent serine/threonine phosphatase, is activated and proposed that it participates in retinal ganglion cell (RGC) apoptosis in two rodent ocular ...

    • Clinical Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis for Neurologic Diagnosis 

      Segal, Michael M.; Abdellateef, Mostafa; El-Hattab, Ayman W.; Hilbush, Brian S.; De La Vega, Francisco M.; Tromp, Gerard; Williams, Marc S.; Betensky, Rebecca A.; Gleeson, Joseph (SAGE Publications, 2014)
      We describe an “integrated genome-phenome analysis” that combines both genomic sequence data and clinical information for genomic diagnosis. It is novel in that it uses robust diagnostic decision support and combines the ...

    • Contributions to Imputation Methods Based on Ranks and to Treatment Selection Methods in Personalized Medicine 

      Matsouaka, Roland Albert (2013-02-14)
      The chapters of this thesis focus two different issues that arise in clinical trials and propose novel methods to address them. The first issue arises in the analysis of data with non-ignorable missing observations. The ...

    • The effect of hospital care on early survival after penetrating trauma 

      Clark, David E; Doolittle, Peter C; Winchell, Robert J; Betensky, Rebecca A (Springer International Publishing, 2014)
      Background: The effectiveness of emergency medical interventions can be best evaluated using time-to-event statistical methods with time-varying covariates (TVC), but this approach is complicated by uncertainty about the ...

    • Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas 

      Engler, David A; Roy, Jennifer; Shen, Yiping; Nunes, Fabio Pereira; Stemmer-Rachamimov, Anat; James, Marianne F.; Mohapatra, Gayatry; Plotkin, Scott Randall; Betensky, Rebecca Aubrey; Ramesh, Vijaya; Gusella, James Francis (BioMed Central, 2009)
      Background: Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with ...

    • Hospital Acquired Pneumonia Is Linked to Right Hemispheric Peri-Insular Stroke 

      Kemmling, André; Lev, Michael H.; Payabvash, Seyedmehdi; Betensky, Rebecca A.; Qian, Jing; Masrur, Shihab; Schwamm, Lee H. (Public Library of Science, 2013)
      Purpose Hospital acquired pneumonia (HAP) is a major complication of stroke. We sought to determine associations between infarction of specific brain regions and HAP. Methods: 215 consecutive acute stroke patients with HAP ...

    • Hypothesis Testing in GWAS and Statistical Issues with Compensation in Clinical Trials 

      Swanson, David Michael (2013-09-27)
      We first show theoretically and in simulation how power varies as a function of SNP correlation structure with currently-implemented gene-based testing methods. We propose alternative testing methods whose power does not ...

    • Molecular evolution of human adenoviruses 

      Robinson, Christopher; Singh, Gurdeep; Lee, Jeong Yoon; Dehghan, Shoaleh; Rajaiya, Jaya; Liu, Elizabeth B.; Yousuf, Mohammad Abu; Betensky, Rebecca Aubrey; Jones, Morris S.; Dyer, David W.; Seto, Donald; Chodosh, James (Nature Publishing Group, 2013)
      The recent emergence of highly virulent human adenoviruses (HAdVs) with new tissue tropisms underscores the need to determine their ontogeny. Here we report complete high quality genome sequences and analyses for all the ...

    • Orchestrated experience-driven Arc/Arg3.1 responses are disrupted in a mouse model of Alzheimer’s disease 

      Rudinskiy, Nikita; Hawkes, Jonathan M.; Betensky, Rebecca Aubrey; Eguchi, Megumi; Yamaguchi, Shun; Spires-Jones, Tara L.; Hyman, Bradley Theodore (2012)
      Experience-induced expression of immediate-early gene Arc/Arg3.1 is known to play a pivotal role in the consolidation of memory. Here we use in-vivo longitudinal multiphoton imaging to show orchestrated activity-dependent ...

    • Tau Causes Synapse Loss without Disrupting Calcium Homeostasis in the rTg4510 Model of Tauopathy 

      Kopeikina, Katherine J.; Wegmann, Susanne; Pitstick, Rose; Carlson, George A.; Bacskai, Brian J.; Betensky, Rebecca A.; Hyman, Bradley T.; Spires-Jones, Tara L. (Public Library of Science, 2013)
      Neurofibrillary tangles (NFTs) of tau are one of the defining hallmarks of Alzheimer’s disease (AD), and are closely associated with neuronal degeneration. Although it has been suggested that calcium dysregulation is ...

    • Tau pathology does not affect experience-driven single-neuron and network-wide Arc/Arg3.1 responses 

      Rudinskiy, Nikita; Hawkes, Jonathan M; Wegmann, Susanne; Kuchibhotla, Kishore V; Muzikansky, Alona; Betensky, Rebecca A; Spires-Jones, Tara L; Hyman, Bradley T (BioMed Central, 2014)
      Intraneuronal neurofibrillary tangles (NFTs) – a characteristic pathological feature of Alzheimer’s and several other neurodegenerative diseases – are considered a major target for drug development. Tangle load correlates ...

    • Thioesterase superfamily member 1 suppresses cold thermogenesis by limiting the oxidation of lipid droplet-derived fatty acids in brown adipose tissue 

      Okada, Kosuke; LeClair, Katherine B.; Zhang, Yongzhao; Li, Yingxia; Ozdemir, Cafer; Krisko, Tibor I.; Hagen, Susan J.; Betensky, Rebecca A.; Banks, Alexander S.; Cohen, David E. (Elsevier, 2016)
      Objective: Non-shivering thermogenesis in brown adipose tissue (BAT) plays a central role in energy homeostasis. Thioesterase superfamily member 1 (Them1), a BAT-enriched long chain fatty acyl-CoA thioesterase, is upregulated ...