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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
A computational model of the early stages of acentriolar meiotic spindle assembly.
Gaelle Letort, Isma Bennabi, Serge Dmitrieff, François Nedelec, Marie-Hélène Verlhac, Marie-Emilie Terret
Jul 30, 2020
The mitotic spindle is an ensemble of microtubules responsible for the repartition of the chromosomal content between the two daughter cells during division. In metazoans, spindle assembly is a gradual process involving dynamic...
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...
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...
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
Sleep-wake disturbances in hospitalized patients with traumatic brain injury
Catherine Duclos, Marie Dumont, Jean Paquet, Hélène Blais, Solenne Van der Maren, David K Menon, Francis Bernard, Nadia Gosselin
Nov 26, 2019
STUDY OBJECTIVES: To test whether the sleep-wake cycle disruption in patients hospitalized with traumatic brain injury (TBI) (1) is also found in patients with traumatic injuries other than TBI (non-TBI) and (2) is associated...
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...
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...
Parallel recovery of consciousness and sleep in acute traumatic brain injury.
Catherine Duclos, Marie Dumont, Caroline Arbour, Jean Paquet, Hélène Blais, David K Menon, Louis De Beaumont, Francis Bernard, Nadia Gosselin
Jun 21, 2018
OBJECTIVE: To investigate whether the progressive recuperation of consciousness was associated with the reconsolidation of sleep and wake states in hospitalized patients with acute traumatic brain injury (TBI). METHODS: This...
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
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...
Role of the BAHD1 Chromatin-Repressive Complex in Placental Development and Regulation of Steroid Metabolism.
Goran Lakisic, Alice Lebreton, Renaud Pourpre, Olivia Wendling, Emanuele Libertini, Elizabeth J Radford, Morwenna Le Guillou, Marie-France Champy, Marie Wattenhofer-Donzé, Guillaume Soubigou, Slimane Ait-Si-Ali, Jean Feunteun, Tania Sorg, Jean-Yves Coppée, Anne C Ferguson-Smith, Pascale Cossart, Hélène Bierne
Dec 02, 2020
BAHD1 is a vertebrate protein that promotes heterochromatin formation and gene repression in association with several epigenetic regulators. However, its physiological roles remain unknown. Here, we demonstrate that ablation of...
Anytime parallel tempering
Abstract: Developing efficient MCMC algorithms is indispensable in Bayesian inference. In parallel tempering, multiple interacting MCMC chains run to more efficiently explore the state space and improve performance. The multiple...
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease.
Cristina Nuevo-Tapioles, Fulvio Santacatterina, Brenda Sánchez-Garrido, Cristina Núñez de Arenas, Adrián Robledo-Bérgamo, Paula Martínez-Valero, Lara Cantarero, Beatriz Pardo, Janet Hoenicka, Michael P Murphy, Jorgina Satrústegui, Francesc Palau, José M Cuezva
Aug 02, 2021
Charcot-Marie-Tooth (CMT) disease is a neuropathy that lacks effective therapy. CMT patients show degeneration of peripheral nerves, leading to muscle weakness and loss of proprioception. Loss of mitochondrial oxidative...
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.
Silvia Cipriani, Vietxuan Phan, Jean-Jacques Médard, Rita Horvath, Hanns Lochmüller, Roman Chrast, Andreas Roos, Sally Spendiff
Feb 22, 2019
The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations in...
Charcot-Marie-Tooth disease 4C SH3TC2 Demyelination Mouse models Neuromuscular Junction Peripheral neuropathy Animals Carrier Proteins Charcot-Marie-Tooth disease Disease Models Animal Exons Gene Knockdown Techniques Intracellular Signaling Peptides and Proteins Mice Mice Mutant Strains Muscle Skeletal Mutation Neuromuscular Junction Sciatic Nerve
The crime reducing effect of education
In this article, we study the crime reducing potential of education, presenting causal statistical estimates based upon a law that changed the compulsory school leaving age in England and Wales. We frame the analysis in a...
Anytime parallel tempering
Abstract: Developing efficient MCMC algorithms is indispensable in Bayesian inference. In parallel tempering, multiple interacting MCMC chains run to more efficiently explore the state space and improve performance. The multiple...
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