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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 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
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...
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...
Animality breastfeeding Hospitality motherhood Other Patriarchy postcolonial reading /dk/atira/pure/subjectarea/asjc/3300/3316 name=Cultural Studies /dk/atira/pure/subjectarea/asjc/1200/1203 name=Language and Linguistics /dk/atira/pure/subjectarea/asjc/1200/1213 name=Visual Arts and Performing Arts /dk/atira/pure/subjectarea/asjc/3300/3310 name=Linguistics and Language /dk/atira/pure/subjectarea/asjc/1200/1208 name=Literature and Literary Theory
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...
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...
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
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
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...
Animality breastfeeding Hospitality motherhood Other Patriarchy postcolonial reading /dk/atira/pure/subjectarea/asjc/3300/3316 name=Cultural Studies /dk/atira/pure/subjectarea/asjc/1200/1203 name=Language and Linguistics /dk/atira/pure/subjectarea/asjc/1200/1213 name=Visual Arts and Performing Arts /dk/atira/pure/subjectarea/asjc/3300/3310 name=Linguistics and Language /dk/atira/pure/subjectarea/asjc/1200/1208 name=Literature and Literary Theory
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...
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
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
Reduction of RUNX1 transcription factor activity by a CBFA2T3-mimicking peptide
Hélène Jakobczyk, Lydie Debaize, Benoit Soubise, Stéphane Avner, Jérémie Rouger-Gaudichon, Séverine Commet, Yan Jiang, Aurélien A Sérandour, Anne-Gaëlle Rio, Jason S Carroll, Christian Wichmann, Michael Lie-A-Ling, Georges Lacaud, Laurent Corcos, Gilles Salbert, Marie-Dominique Galibert, Virginie Gandemer, Marie-Bérengère Troadec
Mar 20, 2021
AML1 CBFA2T3 Childhood Leukemia Driver loop ETO2 inhibitor NHR2 RUNX1 Transcription factor Antineoplastic Agents Cell Line Tumor Child Core Binding Factor Alpha 2 Subunit Gene Expression Regulation Leukemic Humans Peptides Precursor B-Cell Lymphoblastic Leukemia-Lymphoma Protein Interaction Domains and Motifs Protein Interaction Maps Repressor Proteins Transcriptional Activation
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
Delfina Larrea, Marta Pera, Adriano Gonnelli, Rubén Quintana-Cabrera, H Orhan Akman, Cristina Guardia-Laguarta, Kevin R Velasco, Estela Area-Gomez, Federica Dal Bello, Diego De Stefani, Rita Horvath, Michael E Shy, Eric A Schon, Marta Giacomello
Jun 28, 2019
Charcot-Marie-Tooth disease (CMT) type 2A is a form of peripheral neuropathy, due almost exclusively to dominant mutations in the nuclear gene encoding the mitochondrial protein mitofusin-2 (MFN2). However, there is no...
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...
Delocalized electron holes on oxygen in a battery cathode
Robert A. House, Gregory J. Rees, Kit McColl, John Joseph Marie, Mirian Garcia-Fernandez, Abhishek Nag, Ke Jin Zhou, Simon Cassidy, Benjamin J. Morgan, M. Saiful Islam, Peter G. Bruce
Feb 16, 2023
Oxide ions in transition metal oxide cathodes can store charge at high voltage offering a route towards higher energy density batteries. However, upon charging these cathodes, the oxidized oxide ions condense to form...
/dk/atira/pure/subjectarea/asjc/2500/2504 name=Electronic, Optical and Magnetic Materials /dk/atira/pure/subjectarea/asjc/2100/2105 name=Renewable Energy, Sustainability and the Environment /dk/atira/pure/subjectarea/asjc/2100/2103 name=Fuel Technology /dk/atira/pure/subjectarea/asjc/2100/2102 name=Energy Engineering and Power Technology /dk/atira/pure/sustainabledevelopmentgoals/affordable_and_clean_energy name=SDG 7 - Affordable and Clean Energy
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Davide Pareyson, Tanya Stojkovic, Mary M Reilly, Sarah Leonard-Louis, Matilde Laurà, Julian Blake, Yesim Parman, Esra Battaloglu, Meriem Tazir, Mounia Bellatache, Nathalie Bonello-Palot, Nicolas Lévy, Sabrina Sacconi, Raquel Guimarães-Costa, Sharham Attarian, Philippe Latour, Guilhem Solé, André Megarbane, Rita Horvath, Giulia Ricci, Byung-Ok Choi, Angelo Schenone, Chiara Gemelli, Alessandro Geroldi, Mario Sabatelli, Marco Luigetti, Lucio Santoro, Fiore Manganelli, Aldo Quattrone, Paola Valentino, Tatsufumi Murakami, Steven S Scherer, Lois Dankwa, Michael E Shy, Chelsea J Bacon, David N Herrmann, Alberto Zambon, Irene Tramacere, Chiara Pisciotta, Stefania Magri, Stefano C Previtali, Alessandra Bolino
May 28, 2019
OBJECTIVE: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous...
Delocalized electron holes on oxygen in a battery cathode
Robert A. House, Gregory J. Rees, Kit McColl, John Joseph Marie, Mirian Garcia-Fernandez, Abhishek Nag, Ke Jin Zhou, Simon Cassidy, Benjamin J. Morgan, M. Saiful Islam, Peter G. Bruce
Feb 16, 2023
Oxide ions in transition metal oxide cathodes can store charge at high voltage offering a route towards higher energy density batteries. However, upon charging these cathodes, the oxidized oxide ions condense to form...
/dk/atira/pure/subjectarea/asjc/2500/2504 name=Electronic, Optical and Magnetic Materials /dk/atira/pure/subjectarea/asjc/2100/2105 name=Renewable Energy, Sustainability and the Environment /dk/atira/pure/subjectarea/asjc/2100/2103 name=Fuel Technology /dk/atira/pure/subjectarea/asjc/2100/2102 name=Energy Engineering and Power Technology /dk/atira/pure/sustainabledevelopmentgoals/affordable_and_clean_energy name=SDG 7 - Affordable and Clean Energy
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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