23 results on '"Lenglet A"'
Search Results
2. Motor neuron pathology in CANVAS due to RFC1 expansions
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Huin, Vincent, Coarelli, Giulia, Guemy, Clément, Boluda, Susana, Debs, Rabab, Mochel, Fanny, Stojkovic, Tanya, Grabli, David, Maisonobe, Thierry, Gaymard, Bertrand, Lenglet, Timothée, Tard, Céline, Davion, Jean-Baptiste, Sablonnière, Bernard, Monin, Marie-Lorraine, Ewenczyk, Claire, Viala, Karine, Charles, Perrine, Ber, Isabelle Le, Reilly, Mary, Houlden, Henry, Cortese, Andrea, Seilhean, Danielle, Brice, Alexis, and Durr, Alexandra
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Quantitative Biology - Neurons and Cognition - Abstract
CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical features. We clinically and genetically characterized 50 patients, selected based on the presence of sensory neuronopathy confirmed by EMG. We screened RFC1 expansion by PCR, repeat-primed PCR, and Southern blotting of long-range PCR products, a newly developed method. Neuropathological characterization was performed on the brain and spinal cord of one patient. Most patients (88%) carried a biallelic (AAGGG)n expansion in RFC1. In addition to the core CANVAS phenotype (sensory neuronopathy, cerebellar syndrome, and vestibular impairment), we observed chronic cough (97%), oculomotor signs (85%), motor neuron involvement (55%), dysautonomia (50%), and parkinsonism (10%). Motor neuron involvement was found for 24 of 38 patients (63.1%). First motor neuron signs, such as brisk reflexes, extensor plantar responses, and/or spasticity, were present in 29% of patients, second motor neuron signs, such as fasciculations, wasting, weakness, or a neurogenic pattern on EMG in 18%, and both in 16%. Mixed motor and sensory neuronopathy was observed in 19% of patients. Among six non-RFC1 patients, one carried a heterozygous AAGGG expansion and a pathogenic variant in GRM1. Neuropathological examination of one RFC1 patient with an enriched phenotype, including parkinsonism, dysautonomia, and cognitive decline, showed posterior column and lumbar posterior root atrophy. Degeneration of the vestibulospinal and spinocerebellar tracts was mild. We observed marked astrocytic gliosis and axonal swelling of the synapse between first and second motor neurons in the anterior horn at the lumbar level. The cerebellum showed mild depletion of Purkinje cells, with empty baskets, torpedoes, and astrogliosis characterized by a disorganization of the Bergmann's radial glia. We found neuronal loss in the vagal nucleus. The pars compacta of the substantia nigra was depleted, with widespread Lewy bodies in the locus coeruleus, substantia nigra, hippocampus, entorhinal cortex, and amygdala. We propose new guidelines for the screening of RFC1 expansion, considering different expansion motifs. Here, we developed a new method to more easily detect pathogenic RFC1 expansions. We report frequent motor neuron involvement and different neuronopathy subtypes. Parkinsonism was more prevalent in this cohort than in the general population, 10% versus the expected 1% (p < .001). We describe, for the first time, the spinal cord pathology in CANVAS, showing the alteration of posterior columns and roots, astrocytic gliosis and axonal swelling, suggesting motor neuron synaptic dysfunction.
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- 2022
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3. Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations
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Carneiro, Fábio, Saracino, Dario, Huin, Vincent, Clot, Fabienne, Delorme, Cécile, Méneret, Aurélie, Thobois, Stéphane, Cormier, Florence, Corvol, Jean Christophe, Lenglet, Timothée, Vidailhet, Marie, Habert, Marie-Odile, Gabelle, Audrey, Beaufils, Émilie, Mondon, Karl, Tir, Mélissa, Andriuta, Daniela, Brice, Alexis, Deramecourt, Vincent, and Ber, Isabelle Le
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Quantitative Biology - Neurons and Cognition - Abstract
Introduction: A phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic causes of frontotemporal dementia (FTD). It still remains controversial if this association is fortuitous or not, and which clinical clues could reliably suggest a genetic FTD etiology in IPD patients. This study aims to describe the clinical characteristics of FTD mutation carriers presenting with IPD phenotype, provide neuropathological evidence of the mutation's causality, and specifically address their "red flags" according to current IPD criteria. Methods: Seven GRN and C9orf72 carriers with isolated parkinsonism at onset, and three patients from the literature were included in this study. To allow better delineation of their phenotype, the presence of supportive, exclusion and "red flag" features from MDS criteria were analyzed for each case. Results: Amongst the ten patients (5 GRN, 5 C9orf72), seven fulfilled probable IPD criteria during all the disease course, while behavioral/language or motoneuron dysfunctions occurred later in three. Disease duration was longer and dopa-responsiveness was more sustained in C9orf72 than in GRN carriers. Subtle motor features, cognitive/behavioral changes, family history of dementia/ALS were suggestive clues for a genetic diagnosis. Importantly, neuropathological examination in one patient revealed typical TDP-43-inclusions without alpha-synucleinopathy, thus demonstrating the causal link between FTD mutations, TDP-43-pathology and PD phenotype. Conclusion: We showed that, altogether, family history of early-onset dementia/ALS, the presence of cognitive/behavioral dysfunction and subtle motor characteristics are atypical features frequently present in the parkinsonian presentations of GRN and C9orf72 mutations .
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- 2022
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4. Multiway sparse distance weighted discrimination
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Guo, Bin, Eberly, Lynn E., Henry, Pierre-Gilles, Lenglet, Christophe, and Lock, Eric F.
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Statistics - Methodology ,Quantitative Biology - Quantitative Methods ,Statistics - Machine Learning - Abstract
Modern data often take the form of a multiway array. However, most classification methods are designed for vectors, i.e., 1-way arrays. Distance weighted discrimination (DWD) is a popular high-dimensional classification method that has been extended to the multiway context, with dramatic improvements in performance when data have multiway structure. However, the previous implementation of multiway DWD was restricted to classification of matrices, and did not account for sparsity. In this paper, we develop a general framework for multiway classification which is applicable to any number of dimensions and any degree of sparsity. We conducted extensive simulation studies, showing that our model is robust to the degree of sparsity and improves classification accuracy when the data have multiway structure. For our motivating application, magnetic resonance spectroscopy (MRS) was used to measure the abundance of several metabolites across multiple neurological regions and across multiple time points in a mouse model of Friedreich's ataxia, yielding a four-way data array. Our method reveals a robust and interpretable multi-region metabolomic signal that discriminates the groups of interest. We also successfully apply our method to gene expression time course data for multiple sclerosis treatment. An R implementation is available in the package MultiwayClassification at http://github.com/lockEF/MultiwayClassification ., Comment: 46 pages, 8 figures
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- 2021
5. Fitting IVIM with Variable Projection and Simplicial Optimization
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Fadnavis, Shreyas, Farooq, Hamza, Afzali, Maryam, Lenglet, Christoph, Georgiou, Tryphon, Cheng, Hu, Newman, Sharlene, Ahmed, Shahnawaz, Henriques, Rafael Neto, Peterson, Eric, Koudoro, Serge, Rokem, Ariel, and Garyfallidis, Eleftherios
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Electrical Engineering and Systems Science - Image and Video Processing ,Computer Science - Computer Vision and Pattern Recognition ,Quantitative Biology - Quantitative Methods ,Statistics - Applications - Abstract
Fitting multi-exponential models to Diffusion MRI (dMRI) data has always been challenging due to various underlying complexities. In this work, we introduce a novel and robust fitting framework for the standard two-compartment IVIM microstructural model. This framework provides a significant improvement over the existing methods and helps estimate the associated diffusion and perfusion parameters of IVIM in an automatic manner. As a part of this work we provide capabilities to switch between more advanced global optimization methods such as simplicial homology (SH) and differential evolution (DE). Our experiments show that the results obtained from this simultaneous fitting procedure disentangle the model parameters in a reduced subspace. The proposed framework extends the seminal work originated in the MIX framework, with improved procedures for multi-stage fitting. This framework has been made available as an open-source Python implementation and disseminated to the community through the DIPY project.
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- 2019
6. Artifact-Based Rendering: Harnessing Natural and Traditional Visual Media for More Expressive and Engaging 3D Visualizations
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Johnson, Seth, Samsel, Francesca, Abram, Gregory, Olson, Daniel, Solis, Andrew J., Herman, Bridger, Wolfram, Phillip J., Lenglet, Christophe, and Keefe, Daniel F.
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Computer Science - Human-Computer Interaction ,Computer Science - Graphics - Abstract
We introduce Artifact-Based Rendering (ABR), a framework of tools, algorithms, and processes that makes it possible to produce real, data-driven 3D scientific visualizations with a visual language derived entirely from colors, lines, textures, and forms created using traditional physical media or found in nature. A theory and process for ABR is presented to address three current needs: (i) designing better visualizations by making it possible for non-programmers to rapidly design and critique many alternative data-to-visual mappings; (ii) expanding the visual vocabulary used in scientific visualizations to depict increasingly complex multivariate data; (iii) bringing a more engaging, natural, and human-relatable handcrafted aesthetic to data visualization. New tools and algorithms to support ABR include front-end applets for constructing artifact-based colormaps, optimizing 3D scanned meshes for use in data visualization, and synthesizing textures from artifacts. These are complemented by an interactive rendering engine with custom algorithms and interfaces that demonstrate multiple new visual styles for depicting point, line, surface, and volume data. A within-the-research-team design study provides early evidence of the shift in visualization design processes that ABR is believed to enable when compared to traditional scientific visualization systems. Qualitative user feedback on applications to climate science and brain imaging support the utility of ABR for scientific discovery and public communication., Comment: Published in IEEE VIS 2019, 9 pages of content with 2 pages of references, 12 figures
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- 2019
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7. Bisimulations for Delimited-Control Operators
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Biernacki, Dariusz, Lenglet, Sergueï, and Polesiuk, Piotr
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Computer Science - Logic in Computer Science - Abstract
We present a comprehensive study of the behavioral theory of an untyped $\lambda$-calculus extended with the delimited-control operators shift and reset. To that end, we define a contextual equivalence for this calculus, that we then aim to characterize with coinductively defined relations, called bisimilarities. We consider different styles of bisimilarities (namely applicative, normal-form, and environmental) within a unifying framework, and we give several examples to illustrate their respective strengths and weaknesses. We also discuss how to extend this work to other delimited-control operators.
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- 2018
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8. Proving Soundness of Extensional Normal-Form Bisimilarities
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Biernacki, Dariusz, Lenglet, Serguei, and Polesiuk, Piotr
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Computer Science - Logic in Computer Science ,Computer Science - Programming Languages - Abstract
Normal-form bisimilarity is a simple, easy-to-use behavioral equivalence that relates terms in $\lambda$-calculi by decomposing their normal forms into bisimilar subterms. Moreover, it typically allows for powerful up-to techniques, such as bisimulation up to context, which simplify bisimulation proofs even further. However, proving soundness of these relations becomes complicated in the presence of $\eta$-expansion and usually relies on ad hoc proof methods which depend on the language. In this paper we propose a more systematic proof method to show that an extensional normal-form bisimilarity along with its corresponding up to context technique are sound. We illustrate our technique with three calculi: the call-by-value $\lambda$-calculus, the call-by-value $\lambda$-calculus with the delimited-control operators shift and reset, and the call-by-value $\lambda$-calculus with the abortive control operators call/cc and abort. In the first two cases, there was previously no sound up to context technique validating the $\eta$-law, whereas no theory of normal-form bisimulations for a calculus with call/cc and abort has been presented before. Our results have been fully formalized in the Coq proof assistant.
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- 2017
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9. Faithful (meta-)encodings of programmable strategies into term rewriting systems
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Cirstea, Horatiu, Lenglet, Serguei, and Moreau, Pierre-Etienne
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Computer Science - Programming Languages ,F.4 - Abstract
Rewriting is a formalism widely used in computer science and mathematical logic. When using rewriting as a programming or modeling paradigm, the rewrite rules describe the transformations one wants to operate and rewriting strategies are used to con- trol their application. The operational semantics of these strategies are generally accepted and approaches for analyzing the termination of specific strategies have been studied. We propose in this paper a generic encoding of classic control and traversal strategies used in rewrite based languages such as Maude, Stratego and Tom into a plain term rewriting system. The encoding is proven sound and complete and, as a direct consequence, estab- lished termination methods used for term rewriting systems can be applied to analyze the termination of strategy controlled term rewriting systems. We show that the encoding of strategies into term rewriting systems can be easily adapted to handle many-sorted signa- tures and we use a meta-level representation of terms to reduce the size of the encodings. The corresponding implementation in Tom generates term rewriting systems compatible with the syntax of termination tools such as AProVE and TTT2, tools which turned out to be very effective in (dis)proving the termination of the generated term rewriting systems. The approach can also be seen as a generic strategy compiler which can be integrated into languages providing pattern matching primitives; experiments in Tom show that applying our encoding leads to performances comparable to the native Tom strategies.
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- 2017
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10. Environmental Bisimulations for Delimited-Control Operators with Dynamic Prompt Generation
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Aristizábal, Andrés, Biernacki, Dariusz, Lenglet, Sergueï, and Polesiuk, Piotr
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Computer Science - Programming Languages - Abstract
We present sound and complete environmental bisimilarities for a variant of Dybvig et al.'s calculus of multi-prompted delimited-control operators with dynamic prompt generation. The reasoning principles that we obtain generalize and advance the existing techniques for establishing program equivalence in calculi with single-prompted delimited control. The basic theory that we develop is presented using Madiot et al.'s framework that allows for smooth integration and composition of up-to techniques facilitating bisimulation proofs. We also generalize the framework in order to express environmental bisimulations that support equivalence proofs of evaluation contexts representing continuations. This change leads to a novel and powerful up-to technique enhancing bisimulation proofs in the presence of control operators.
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- 2016
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11. Environmental Bisimulations for Delimited-Control Operators
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Biernacki, Dariusz and Lenglet, Sergueï
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Computer Science - Programming Languages ,Computer Science - Formal Languages and Automata Theory - Abstract
We present a theory of environmental bisimilarity for the delimited-control operators {\it shift} and {\it reset}. We consider two different notions of contextual equivalence: one that does not require the presence of a top-level control delimiter when executing tested terms, and another one, fully compatible with the original CPS semantics of shift and reset, that does. For each of them, we develop sound and complete environmental bisimilarities, and we discuss up-to techniques., Comment: Long version of the corresponding APLAS13 paper
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- 2013
12. Proving termination of evaluation for System F with control operators
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Biernacka, Małgorzata, Biernacki, Dariusz, Lenglet, Sergueï, and Materzok, Marek
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Computer Science - Programming Languages ,Computer Science - Logic in Computer Science ,F.3.1, F.3.3 - Abstract
We present new proofs of termination of evaluation in reduction semantics (i.e., a small-step operational semantics with explicit representation of evaluation contexts) for System F with control operators. We introduce a modified version of Girard's proof method based on reducibility candidates, where the reducibility predicates are defined on values and on evaluation contexts as prescribed by the reduction semantics format. We address both abortive control operators (callcc) and delimited-control operators (shift and reset) for which we introduce novel polymorphic type systems, and we consider both the call-by-value and call-by-name evaluation strategies., Comment: In Proceedings COS 2013, arXiv:1309.0924
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- 2013
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13. Normal Form Bisimulations for Delimited-Control Operators
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Biernacki, Dariusz and Lenglet, Serguei
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Computer Science - Programming Languages ,D.3.1 ,D.3.3 ,F.3.2 ,F.3.3 - Abstract
We define a notion of normal form bisimilarity for the untyped call-by-value lambda calculus extended with the delimited-control operators shift and reset. Normal form bisimilarities are simple, easy-to-use behavioral equivalences which relate terms without having to test them within all contexts (like contextual equivalence), or by applying them to function arguments (like applicative bisimilarity). We prove that the normal form bisimilarity for shift and reset is sound but not complete w.r.t. contextual equivalence and we define up-to techniques that aim at simplifying bisimulation proofs. Finally, we illustrate the simplicity of the techniques we develop by proving several equivalences on terms.
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- 2012
14. Expansion for Universal Quantifiers
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Lenglet, Sergueï and Wells, J. B.
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Computer Science - Programming Languages - Abstract
Expansion is an operation on typings (i.e., pairs of typing environments and result types) defined originally in type systems for the lambda-calculus with intersection types in order to obtain principal (i.e., most informative, strongest) typings. In a type inference scenario, expansion allows postponing choices for whether and how to use non-syntax-driven typing rules (e.g., intersection introduction) until enough information has been gathered to make the right decision. Furthermore, these choices can be equivalent to inserting uses of such typing rules at deeply nested positions in a typing derivation, without needing to actually inspect or modify (or even have) the typing derivation. Expansion has in recent years become simpler due to the use of expansion variables (e.g., in System E). This paper extends expansion and expansion variables to systems with forall-quantifiers. We present System Fs, an extension of System F with expansion, and prove its main properties. This system turns type inference into a constraint solving problem; this could be helpful to design a modular type inference algorithm for System F types in the future., Comment: Long version of the corresponding ESOP 2012 paper
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- 2012
15. Applicative Bisimulations for Delimited-Control Operators
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Biernacki, Dariusz and Lenglet, Serguei
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Computer Science - Programming Languages ,D.3.1 ,D.3.3 ,F.3.2 ,F.3.3 - Abstract
We develop a behavioral theory for the untyped call-by-value lambda calculus extended with the delimited-control operators shift and reset. For this calculus, we discuss the possible observable behaviors and we define an applicative bisimilarity that characterizes contextual equivalence. We then compare the applicative bisimilarity and the CPS equivalence, a relation on terms often used in studies of control operators. In the process, we illustrate how bisimilarity can be used to prove equivalence of terms with delimited-control effects., Comment: A long version of an article accepted at FoSSaCS 2012
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- 2012
16. 'Tele Pour Tous' in Rural Ivory Coast: Audience, Impact, Perceptions: Report of Two Surveys Conducted in January and April, 1977.
- Author
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Stanford Univ., CA. Inst. for Communication Research., Academy for Educational Development, Washington, DC., Etaix, Mireille, and Lenglet, Frans
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This report presents the results of two surveys conducted in January and April 1977 in the Ivory Coast to assess the impact of the "Tele Pour Tous" programs on rural audiences in terms of awareness, learning, and action. Descriptions of the socio-economic characteristics of the audience and their viewing patterns were sought, and attempts were made to determine the attitudes of the audience concerning "Tele Pour Tous" and to explore opinions about the benefits and beneficiaries of the programs. Eight conclusions drawn suggest that the Ivorian Out-of-School Educational Television project works, though minimally and inefficiently--however the reach and effect of the programs could be improved by modifying their form, content and reception. Appendices include the questionnaires (in French), statistical data, and a list of programs broadcast. (JEG)
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- 1977
17. Rural Adult Education and the Role of Mass Media: A Comparative Analysis of Four Projects.
- Author
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Stanford Univ., CA. Inst. for Communication Research., Academy for Educational Development, Washington, DC., Lenglet, Frans, and McAnany, Emile G.
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Rural adult education projects using television in Tanzania, the Ivory Coast, Dominican Republic, and Guatemala are described and compared with special attention given to objectives, organization, selection and recruitment of supervisors, monitors and participants, use of communication media, feedback and evaluation systems impact, and constraints. The Dominican Republic's Radio Schools of Santa Maria (RSM) is judged most successful in terms of impact and enrollment. It is suggested that RSC (Radio Study Campaign) in Tanzania acts the most directly as a means through which the state influences and transforms the socio-political climate and economy of the country in accordance with domestic and international political and economic power relations. (JEG)
- Published
- 1977
18. The Impact of 25 Television Programs on 'Water' Produced and Broadcast by the Ivorian Out-of-School Education Project.
- Author
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Stanford Univ., CA. Inst. for Communication Research., Academy for Educational Development, Washington, DC., and Lenglet, Frans
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The study described evaluated the reach and impact of 25 Tele Pour Tous Television for Everybody) programs on water and related issues which were broadcast by the Ivorian Out of School Television (OSTV) project in April-December 1975. This report discusses the relevance of the topic as a theme for an adult education TV program series, describes and analyzes the development of the two series of broadcasts and one individual broadcast, and explains the research design and methodology which provided the data to make an assessment of the impact of the TV programs in terms of awareness, learning and behavior, or action. Findings indicate that, although the program reached a considerable audience and generated a high level of interest, certain obstacles exist which make implementation difficult, and interest declines over time. It is suggested that the impact of such programs would be enhanced by the active promotion by OSTV of local Tele-Clubs as nuclei for action; by more active cooperation by government agencies and private organizations concerned by the issues in the preparation and follow-up of OSTV programs; and by limiting the number of communal actions advocated and proposed in the programs. (JEG)
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- 1976
19. ODF Maxima Extraction in Spherical Harmonic Representation via Analytical Search Space Reduction
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Aganj, Iman, primary, Lenglet, Christophe, primary, and Sapiro, Guillermo, primary
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- 2010
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20. A Hough Transform Global Probabilistic Approach to Multiple-Subject Diffusion MRI Tractography
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Aganj, Iman, primary, Lenglet, Christophe, primary, Jahanshad, Neda, primary, Yacoub, Essa, primary, Harel, Noam, primary, Thompson, Paul M., primary, and Sapiro, Guillermo, primary
- Published
- 2010
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21. Relating Fiber Crossing in HARDI to Intellectual Function
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Aganj, Iman, primary, Jahanshad, Neda, primary, Lenglet, Christophe, primary, Toga, Arthur W., primary, McMahon, Katie L., primary, de Zubicaray, Greig I., primary, Wright, Margaret J., primary, Martin, Nicholas G., primary, Sapiro, Guillermo, primary, and Thompson, Paul M., primary
- Published
- 2010
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22. Reconstruction of the Orientation Distribution Function in Single and Multiple Shell Q-Ball Imaging within Constant Solid Angle
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Aganj, Iman, primary, Lenglet, Christophe, primary, Sapiro, Guillermo, primary, Yacoub, Essa, primary, Ugurbil, Kamil, primary, and Harel, Noam, primary
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- 2009
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23. NCS Report 15: Quality assurance of 3-D treatment planning systems for external photon and electron beams
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Bruinvis, I.A.D., primary, Keus, R.B., additional, Lenglet, W.J.M., additional, Meijer, G.J., additional, Mijnheer, B.J., additional, Van 't Veld, A.A., additional, Venselaar, J.L.M., additional, Welleweerd, J., additional, and Woudstra, E., additional
- Published
- 2005
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