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Spotlight on deep carbon research.
Professor Marie Edmonds is a volcanologist at the University of Cambridge. She is interested in the role of magmatic volatiles in magma genesis, volcanic eruptions, and volatile geochemical cycling. Dr. Robert Hazen is a...
Endowment of Scholarship Honors Late Alumna Anna Marie Hurst '12
Winthrop University
Jan 01, 0001
The Anna Marie Hurst Memorial Scholarship supports students majoring in elementary education, early childhood education or family and consumer sciences. Hurst, a native of Rock Hill, earned her B.S. in family and consumer...
Published by: Winthrop University
Engaging use of Social Media as a research tool to capture the daily life experiences of young people with chronic pain
This article summarises a recent EBN Twitter chat on the use of social media as a research tool to capture the daily life experiences of young people with chronic pain. The Twitter chat was led by Line Caes (@LineCaes) from the...
Discovery of a diffuse optical line emitting halo in the core of the Centaurus cluster of galaxies
S. L. Hamer, A. C. Fabian, H. R. Russell, P. Salomé, F. Combes, V. Olivares, F. L. Polles, A. C. Edge, R. S. Beckmann
Mar 26, 2019
We present the discovery of diffuse optical line emission in the Centaurus cluster seen with the MUSE IFU. The unparalleled sensitivity of MUSE allows us to detect the faint emission from these structures which extend well...
Engaging use of Social Media as a research tool to capture the daily life experiences of young people with chronic pain
This article summarises a recent EBN Twitter chat on the use of social media as a research tool to capture the daily life experiences of young people with chronic pain. The Twitter chat was led by Line Caes (@LineCaes) from the...
Food and societal (dis)order in Marie Darrieussecq’s works
Sandra Daroczi
Jun 30, 2020
This article analyses the way Marie Darrieussecq explores oppositions intrinsic to food, both as a lens that reflects the absurdities of various societal orders and as an instrument to contest, respond to, and subvert these...
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Julius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, Elaine M Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet-Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B Harms, Henna Tyynismaa, Emil Ylikallio
Nov 13, 2020
OBJECTIVE: ITPR3, encoding inositol 1,4,5-trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot-Marie-Tooth neuropathy. Here, we present genetic and functional evidence that...
Foix-Chavany-Marie syndrome secondary to bilateral traumatic operculum injury.
This report describes a case of a 62-year-old man who developed Foix-Chavany-Marie syndrome subsequent to traumatic brain injury. The initial presentation of the syndrome was profound loss of voluntary control of orofacial...
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Denisa Hathazi, Dan Cox, Adele D'Amico, Giorgio Tasca, Richard Charlton, Robert-Yves Carlier, Jennifer Baumann, Laxmikanth Kollipara, René P Zahedi, Ingo Feldmann, Jean-Francois Deleuze, Annalaura Torella, Ronald Cohn, Emily Robinson, Francesco Ricci, Heinz Jungbluth, Fabiana Fattori, Anne Boland, Emily O'Connor, Rita Horvath, Rita Barresi, Hanns Lochmüller, Andoni Urtizberea, Marie-Line Jacquemont, Isabelle Nelson, Laura Swan, Gisèle Bonne, Andreas Roos
Apr 08, 2021
The Grizzly, April 25, 2024
Marie Sykes, Ellie Burns, Kathy Logan, Sean McGinley, Kate Horan, Mairead McDermott, Georgia Gardner, Adam Denn, Renie Christensen, Dominic Minicozzi
Jan 01, 0001
Weaving Stories Into Dance CoSA Coming This Wednesday! Ursinus Students Present Biology Projects in San Diego Editor's Note Marie Sykes: Editor-in-Chief Signing Off Grizzly Editorial Team: Senior Goodbyes Grizzly Editorial...
Ursinus College Collegeville Pennsylvania newspaper Ursinus College Dance Company Celebration of Student Achievement Zoe Moosbrugger Kyle Schantz Marie Sykes Mairead McDermott Renie Christensen Sean McGinley golf lacrosse softball tennis track team Dominic Minicozzi cultural history Higher Education Liberal Studies Social History United States History
Published by: Ursinus College
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
James R Edgar, Anita K Ho, Matilde Laurá, Rita Horvath, Mary M Reilly, J Paul Luzio, Rhys C Roberts
Sep 28, 2020
Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
Charcot–Marie–Tooth endosome LITAF lysosome Peripheral neuropathy phosphoinositide Adult Charcot-Marie-Tooth disease Endosomes Female FIBROBLASTS Flavoproteins Gene Knockout Techniques Humans Loss of Function Mutation Lysosomes Male Microscopy Confocal Microscopy Electron Middle Aged Nuclear Proteins Phosphoric Monoester Hydrolases Transcription Factors Transient Receptor Potential Channels Vacuoles
Food and societal (dis)order in Marie Darrieussecq’s works
Sandra Daroczi
Jun 30, 2020
This article analyses the way Marie Darrieussecq explores oppositions intrinsic to food, both as a lens that reflects the absurdities of various societal orders and as an instrument to contest, respond to, and subvert these...
Discovery of a diffuse optical line emitting halo in the core of the Centaurus cluster of galaxies
S. L. Hamer, A. C. Fabian, H. R. Russell, P. Salomé, F. Combes, V. Olivares, F. L. Polles, A. C. Edge, R. S. Beckmann
Mar 26, 2019
We present the discovery of diffuse optical line emission in the Centaurus cluster seen with the MUSE IFU. The unparalleled sensitivity of MUSE allows us to detect the faint emission from these structures which extend well...
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease
James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts
Oct 18, 2021
Abstract: Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot–Marie–Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease
James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts
Oct 15, 2020
Abstract: Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot–Marie–Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
Fostering Competency Development Through Knowledge Sharing Capabilities in Onboarding
The study proposes and empirically validates a theoretical model suggesting that employee competency development during the onboarding period largely depends on the availability of knowledge sharing (KS) channels (both digital...
Published by: IGI Global Scientific Publishing
Federal Stimulus Money Will Help Replace Steam Line on Campus
Winthrop University
Jan 01, 0001
Construction on replacing portions of the 418-foot line started last month and is expected to last until early 2010. Energy cost savings on the line are estimated at $33,000 annually.
Published by: Winthrop University
Natural history of Charcot-Marie-Tooth disease type 2A
Menelaos Pipis, Shawna ME Feely, James M Polke, Mariola Skorupinska, Laura Perez, Rosemary R Shy, Matilde Laura, Jasper M Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujovic, Thomas E Lloyd, Gyula Acsadi, Sabrina W Yum, Richard A Lewis, Richard S Finkel, David N Herrmann, John W Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horvath, Nicholas E Johnson, Stephan Züchner, Davide Pareyson, Steven S Scherer, Alexander M Rossor, Michael E Shy, Mary M Reilly, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Oct 15, 2020
Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth...
Charcot-Marie-Tooth Examination Score v2.0 Charcot-Marie-Tooth disease type 2A genotype-phenotype correlations mitofusin-2 standardized response mean Adolescent Adult Age of Onset Charcot-Marie-Tooth disease Child Child Preschool Cohort Studies Disease Progression Female GTP Phosphohydrolases Genes Dominant Genes Recessive Genetic Association Studies Genetic Markers Humans Infant Longitudinal Studies Male Mitochondrial Proteins Neurologic Examination Orthotic Devices Prognosis Prospective Studies Wheelchairs Young Adult
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Francis B Panosyan, Matilde Laura, Alexander M Rossor, Chiara Pisciotta, Giuseppe Piscosquito, Joshua Burns, Jun Li, Sabrina W Yum, Richard A Lewis, John Day, Rita Horvath, David N Herrmann, Michael E Shy, Davide Pareyson, Mary M Reilly, Steven S Scherer, Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)
Mar 07, 2019
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report...
An Assembly Line Balancing Application on Oven Production Line with Hyper-Heuristics
In this study, an oven assembly line that is planning to re-establish manufacturing to increase the efficiency of the assembly process. The importance of the problem emerges from a real-world application consisting of...
Published by: IGI Global Scientific Publishing
Generation and characterization of an Advillin-Cre driver mouse line.
Sandra Zurborg, Agnieszka Piszczek, Conception Martínez, Philip Hublitz, Mumna Al Banchaabouchi, Pedro Moreira, Emerald Perlas, Paul A Heppenstall
Aug 08, 2017
Progress in the somatosensory field has been restricted by the limited number of genetic tools available to study gene function in peripheral sensory neurons. Here we generated a Cre-driver mouse line that expresses...
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Victoria ER Parker, Arthur Sorlin, Sylvie Fraitag, Jean-Benoît Courcet, Yannis Duffourd, Diana Rodriguez, Rachel G Knox, Satyamaanasa Polubothu, Anne Boland, Robert Olaso, Marc Delepine, Véronique Darmency, Melissa Riachi, Chloé Quelin, Paul Rollier, Louise Goujon, Sarah Grotto, Yline Capri, Marie-Line Jacquemont, Sylvie Odent, Daniel Amram, Martin Chevarin, Catherine Vincent-Delorme, Benoît Catteau, Laurent Guibaud, Alexis Arzimanoglou, Malika Keddar, Catherine Sarret, Patrick Callier, Didier Bessis, David Geneviève, Jean-François Deleuze, Christel Thauvin, Robert K Semple, Christophe Philippe, Jean-Baptiste Rivière, Veronica A Kinsler, Laurence Faivre, Pierre Vabres
Aug 11, 2021
PURPOSE: Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical...
Analytic modelling of a planar Goubau line with circular conductor.
Planar Goubau lines show promise as high frequency, low-loss waveguides on a substrate. However, to date only numerical simulations and experimental measurements have been performed. This paper analytically investigates the...
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