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5. SARS-CoV-2 activates the TLR4/MyD88 pathway in human macrophages: A possible correlation with strong pro-inflammatory responses in severe COVID-19

Author

Sahanic, Sabina, Hilbe, Richard, Dünser, Christina, Tymoszuk, Piotr, Löffler-Ragg, Judith, Rieder, Dietmar, Trajanoski, Zlatko, Krogsdam, Anne, Demetz, Egon, Yurchenko, Maria, Fischer, Christine, Schirmer, Michael, Theurl, Markus, Lener, Daniela, Hirsch, Jakob, Holfeld, Johannes, Gollmann-Tepeköylü, Can, Zinner, Carl P., Tzankov, Alexandar, Zhang, Shen-Ying, Casanova, Jean-Laurent, Posch, Wilfried, Wilflingseder, Doris, Weiss, Guenter, and Tancevski, Ivan

Published
2023
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7. Cerebrospinal fluid, plasma, and saliva in the BioFIND study: Relationships among biomarkers and Parkinson's disease Features

Author

Goldman, Jennifer G, Andrews, Howard, Amara, Amy, Naito, Anna, Alcalay, Roy N, Shaw, Leslie M, Taylor, Peggy, Xie, Tao, Tuite, Paul, Henchcliffe, Claire, Hogarth, Penelope, Frank, Samuel, Saint‐Hilaire, Marie‐Helene, Frasier, Mark, Arnedo, Vanessa, Reimer, Alyssa N, Sutherland, Margaret, Swanson‐Fischer, Christine, Gwinn, Katrina, Discovery, The Fox Investigation of New Biomarker, and Kang, Un Jung

Subjects
Parkinson's Disease, Clinical Research, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurosciences, Acquired Cognitive Impairment, Aging, Neurodegenerative, Dementia, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, Neurological, Aged, Amyloid beta-Peptides, Biomarkers, Cohort Studies, Correlation of Data, Cross-Sectional Studies, Female, Humans, Male, Middle Aged, Parkinson Disease, Peptide Fragments, Postural Balance, Saliva, Sensation Disorders, United States, alpha-Synuclein, tau Proteins, Fox Investigation of New Biomarker Discovery, alpha-synuclein, amyloid, cerebrospinal fluid, postural instability gait difficulty, tau, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery
Abstract

ObjectiveExamine relationships among neurodegenerative biomarkers and PD motor and nonmotor symptoms.BackgroundCSF alpha-synuclein is decreased in PD versus healthy controls, but whether plasma and saliva alpha-synuclein differentiate these groups is controversial. Correlations of alpha-synuclein among biofluids (CSF, plasma, saliva) or biomarkers (eg, beta-amyloid, tau [total, phosphorylated]) are not fully understood. The relationships of these biomarkers with PD clinical features remain unclear.MethodsBioFIND, a cross-sectional, observational study, examines clinical and biomarker characteristics in moderate-advanced PD and matched healthy controls. We compared alpha-synuclein concentrations across diagnosis, biofluids, and CSF biomarkers. Correlations of CSF biomarkers and MDS-UPDRS, motor phenotype, MoCA, and rapid eye movement sleep behavior disorder questionnaire scores in PD were examined.ResultsCSF alpha-synuclein was lower in PD versus controls (P = .01), controlling for age, gender, and education. Plasma and saliva alpha-synuclein did not differ between PD and controls, and alpha-synuclein did not significantly correlate among biofluids. CSF beta-amyloid1-42 was lower in PD versus controls (P

Published
2018

8. Genetic Determined Iron Starvation Signature in Friedreich's Ataxia.

Author

Grander, Manuel, Haschka, David, Indelicato, Elisabetta, Kremser, Christian, Amprosi, Matthias, Nachbauer, Wolfgang, Henninger, Benjamin, Stefani, Ambra, Högl, Birgit, Fischer, Christine, Seifert, Markus, Kiechl, Stefan, Weiss, Günter, and Boesch, Sylvia

Abstract

Background: Early studies in cellular models suggested an iron accumulation in Friedreich's ataxia (FA), yet findings from patients are lacking. Objectives: The objective is to characterize systemic iron metabolism, body iron storages, and intracellular iron regulation in FA patients. Methods: In FA patients and matched healthy controls, we assessed serum iron parameters, regulatory hormones as well as the expression of regulatory proteins and iron distribution in peripheral blood mononuclear cells (PBMCs). We applied magnetic resonance imaging with R2*‐relaxometry to quantify iron storages in the liver, spleen, and pancreas. Across all evaluations, we assessed the influence of the genetic severity as expressed by the length of the shorter GAA‐expansion (GAA1). Results: We recruited 40 FA patients (19 women). Compared to controls, FA patients displayed lower serum iron and transferrin saturation. Serum ferritin, hepcidin, mean corpuscular hemoglobin and mean corpuscular volume in FA inversely correlated with the GAA1‐repeat length, indicating iron deficiency and restricted availability for erythropoiesis with increasing genetic severity. R2*‐relaxometry revealed a reduction of splenic and hepatic iron stores in FA. Liver and spleen R2* values inversely correlated with the GAA1‐repeat length. FA PBMCs displayed downregulation of ferritin and upregulation of transferrin receptor and divalent metal transporter‐1 mRNA, particularly in patients with >500 GAA1‐repeats. In FA PBMCs, intracellular iron was not increased, but shifted toward mitochondria. Conclusions: We provide evidence for a previously unrecognized iron starvation signature at systemic and cellular levels in FA patients, which is related to the underlying genetic severity. These findings challenge the use of systemic iron lowering therapies in FA. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Dopamine-iron homeostasis interaction rescues mitochondrial fitness in Parkinson's disease

Author

Buoso, Chiara, primary, Seifert, Markus, additional, Lang, Martin, additional, Griffith, Corey M, additional, Andujar, Begona Talavera, additional, Rueda, Maria Paulina Castelo, additional, Fischer, Christine, additional, Doerrier, Carolina, additional, Talasz, Heribert, additional, Zanon, Alessandra, additional, Pramstaller, Peter P, additional, Schymanski, Emma L., additional, Pichler, Irene, additional, and Weiss, Guenter, additional

Published
2023
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14. List of Contributors

Author

Aaen, Gregory, primary, Abroms, Israel F., additional, Ådén, Ulrika, additional, Ahlsten, Gunnar, additional, Aird, Robert B., additional, Al-Zaidy, Samiah A., additional, Andermann, Fred, additional, Anlar, Banu, additional, Arzimanoglou, Alexis, additional, Ashwal, Stephen, additional, Augustine, Erika, additional, Ballaban-Gil, Karen, additional, Bamford, Nigel S., additional, Barlow, Charles F., additional, Bast, Thomas, additional, Bates, David, additional, Baumann, Robert J., additional, Bertini, Enrico, additional, Beya, Alidor, additional, Blaw, Michael, additional, Bodensteiner, John, additional, Bonthius, Daniel J., additional, Brin, Amy E., additional, Brockmann, Knut, additional, Brown, John Keith, additional, Brown, Stuart B., additional, Brumback, Audrey Christine, additional, Bureau, Michelle, additional, Burke, James R., additional, Bye, Annie, additional, Camfield, Carol, additional, Camfield, Peter, additional, Campistol Plana, Jaume, additional, Canale, Dee James, additional, Caneris, Onasis, additional, Caraballo, Roberto H., additional, Caviness, Alison Chantal, additional, Chao, Hsiao-Tuan, additional, Chapman, Catherine A., additional, Chaves-Carballo, Enrique, additional, Cho, Yoon-Jae, additional, Christen, Hans-Jürgen, additional, Chugani, Harry T., additional, Cioni, Giovanni, additional, Clark, David, additional, Cliff, Edward Robert Scheffer, additional, Cochran, Frederick B., additional, Cohen, Bruce H., additional, Cohen, Maynard M., additional, Collins, Kevin, additional, Covanis, Athanasios, additional, Critchley, Macdonald, additional, Cross, J. Helen, additional, Crumrine, Patricia K., additional, Curatolo, Paolo, additional, Davies, Pamela A., additional, deVeber, Gabrielle, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, De Waele, Liesbeth, additional, DeMyer, William, additional, Devlin, Anita, additional, Dobyns, William B., additional, Dodson, W. Edwin, additional, Donald, Kirsty, additional, Duffy, Frank H., additional, Dunn, David W., additional, Dunn, Henry G., additional, Dure, Leon S., additional, Dyken, Paul Richard, additional, Encha-Razavi, Férechté, additional, Erenberg, Gerald, additional, Estes, Melinda L., additional, Evrard, Philippe, additional, Ferriero, Donna, additional, Ferry, Peggy, additional, Fine, Archie, additional, Fine, Edward J., additional, Fine, John S., additional, Finkel, Richard S., additional, Fischer, Alain, additional, Fischer, Christine, additional, Fogan, Lance, additional, Fowler, Glenn W., additional, Frank, Yitzchak, additional, Fullerton, Heather J., additional, Furukawa, Tetsuo, additional, Gabriel, Ronald S., additional, Galanopoulou, Aristea S., additional, Gardner-Medwin, David, additional, Garg, Bhuwan, additional, Genton, Pierre, additional, George, Mark S., additional, Gineste, Thierry, additional, Giza, Christopher C., additional, Goemans, Nathalie, additional, Golden, Gerald S., additional, Golden, Jeffrey Alan, additional, Goldstein, Gary W., additional, Gomez, Christopher, additional, Gomez, Manuel R., additional, Gomez, Timothy, additional, Goodkin, Howard P., additional, Gordon, Neil, additional, Gressens, Pierre, additional, Groger, Helmut, additional, Guerrini, Renzo, additional, Gurnett, Christina A., additional, Gussoni, Emanuela, additional, Haas, Richard, additional, Hagberg, Bengt, additional, Haller, Jerome S., additional, Hartman, Adam L., additional, Haruda, Fred, additional, Hirtz, Deborah, additional, Hogan, Gwendolyn R., additional, Hunt, Guy M., additional, Iannaccone, Susan T., additional, Eleanor Inder, Terrie, additional, Ionasescu, Victor, additional, Jansen, Katrien, additional, Jiang, Yuwu, additional, Kaminski, Henry J., additional, Kamoshita, Shigehiko, additional, Kang, Peter B., additional, Kaufman, David M., additional, Kaufmann, Walter E., additional, Kaye, Edward M., additional, Kellaway, Peter, additional, Kelley, Rhona S., additional, Kennedy, Charles, additional, Kim, Young-Min, additional, Kirby, Michael, additional, Kirton, Adam, additional, Kobayashi, Eliane, additional, Kossoff, Eric H., additional, Koutroumanidis, Michail, additional, Krupp, Lauren, additional, Lange, Bernadette M., additional, Lanska, Douglas J., additional, Lanska, Mary Jo, additional, Larsen, Paul D., additional, Lassoff, Samuel J., additional, Laterra, John, additional, Lemieux, Bernard, additional, Lenn, Nicholas J., additional, Logan, William J., additional, Lomax, Elizabeth, additional, Longo, Lawrence D., additional, Lorris Betz, A., additional, Manyam, Bala V., additional, Marks, Warren A., additional, Massey, E. Wayne, additional, Mate, Laszlo J., additional, McKinlay, Ian, additional, McLean, William T., additional, McLellan, Ailsa, additional, Mehler, Mark F., additional, Melchior, Johannes C., additional, Michelson, David J., additional, Miller, Steven P., additional, Miller, Suzanne L., additional, Millichap, J. Gordon, additional, Minns, Robert A., additional, Mizrahi, Eli M., additional, Moser, Ann B., additional, Moshé, Solomon L., additional, Muhle, Hiltrud, additional, Muntoni, Francesco, additional, Naidu, Sakkubai, additional, Narayanan, Vinodh, additional, Nardocci, Nardo, additional, Neil, Jeffrey J., additional, Neumeyer, Ann, additional, Noetzel, Michael J., additional, Nomura, Yoshiko, additional, Nordli, Douglas R., additional, North, Kathryn, additional, Ohtsuka, Yoko, additional, O’Callaghan, Finbar J.K., additional, Packer, Roger J., additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearl, Phillip L., additional, Philippart, Michel, additional, Pihko, Helena S., additional, Piller, Gordon, additional, Platz, Thomas F., additional, Poduri, Annapurna, additional, Pollack, Michael A., additional, Porter, Brenda E., additional, Provis, Michèle, additional, Rating, Dietz, additional, Reich, Harold, additional, Remler, Bernd, additional, Rho, Jong M., additional, Richards, Peter, additional, Richardson, Edward P., additional, Richardson, Sylvia O., additional, Roach, E. Steve, additional, Rose, Arthur L., additional, Rozear, Marvin P., additional, Rubinstein, Lucien J., additional, Rust, Robert S., additional, Saini, Arushi Gahlot, additional, Saint-Anne Dargassies, Suzanne, additional, Sarnat, Harvey B., additional, Sarwar, Mohammad, additional, Satran, Richard, additional, Schneider, Sanford, additional, Schrank, Waltraud, additional, Scott, Rodney C., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Sestan, Nenad, additional, Shapiro, Steven, additional, Sherr, Elliott H., additional, Shevell, Michael, additional, Shield, Lloyd, additional, Sidman, Richard L., additional, Silverstein, Faye S., additional, Sinnreich, Michael, additional, Snead, O. Carter, additional, Solomons, Regan, additional, Soria-Duran, Emilio, additional, Stafstrom, Carl E., additional, Steven Roach, E., additional, Stevens, Harold, additional, Strassburg, Hans Michael, additional, Stumpf, David A., additional, Sullivan, Thomas, additional, Swick, Herbert M., additional, Swisher, Charles N., additional, Takahashi, Takao, additional, Tein, Ingrid, additional, Tochen, Laura, additional, Thomas, Eva E., additional, Thompson, Alan, additional, Toor, Svinder S., additional, Tyler, H. Richard, additional, Uldall, Peter, additional, Urion, David K., additional, Valappil, Ahsan Moosa Naduvil, additional, Van Toorn, Ronald, additional, Vermilion, Jennifer, additional, Vidaver, Doris, additional, Vohr, Betty R., additional, Vollmer, Brigitte, additional, Volpe, Joseph J., additional, Waber, Deborah P., additional, Wainwright, Mark S., additional, Waites, Lucius, additional, Walsh, Christopher, additional, Weindl, Adolf, additional, Whelan, Mary Anne, additional, White, Larry E., additional, Whittemore, Vicky Holets, additional, Wilmshurst, Jo, additional, Wirrell, Elaine, additional, Wolf, Nicole I., additional, Youssef, Paul, additional, Zempel, John, additional, Zoghbi, Huda Y., additional, Zuberi, Sameer M., additional, and Zupanc, Mary, additional

Published
2021
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17. A Fully Digital Workflow to Achieve Predictable Esthetic and Functional Outcomes: A Case Series.

Author

An, Hongseok, Fischer, Christine Marie, Miller, Stephanie Elizabeth, Al-Bitar, Kinan Malik, and Luepke, Paul Gerard

Subjects
DENTAL radiography, DIGITAL technology, COMPUTER-aided design, COSMETIC dentistry, DIGITAL diagnostic imaging, TREATMENT effectiveness, FUNCTIONAL status, WORKFLOW, DENTAL occlusion, MEDICAL digital radiography, PERIODONTICS, DENTAL technology, THREE-dimensional printing
Abstract

Various types of digital dental technologies have been successfully implemented as a part of dental treatment to improve predictability and efficiency of dental procedures. Virtual smile design can be used to enhance predictability from an esthetic perspective, and the virtual articulator can be a useful tool to create a desired occlusal scheme. This case series describes a fully digital workflow that can predictably achieve desired esthetic and functional outcomes. The proposed protocol also includes other currently available digital technologies, such as intraoral scanning, computer-aided design, milling, and 3D printing. [ABSTRACT FROM AUTHOR]

Published
2022
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18. Root chemistry and soil fauna, but not soil abiotic conditions explain the effects of plant diversity on root decomposition

Author

Chen, Hongmei, Oram, Natalie J., Barry, Kathryn E., Mommer, Liesje, van Ruijven, Jasper, de Kroon, Hans, Ebeling, Anne, Eisenhauer, Nico, Fischer, Christine, Gleixner, Gerd, Gessler, Arthur, Macé, Odette González, Hacker, Nina, Hildebrandt, Anke, Lange, Markus, Scherer-Lorenzen, Michael, Scheu, Stefan, Oelmann, Yvonne, Wagg, Cameron, Wilcke, Wolfgang, Wirth, Christian, and Weigelt, Alexandra

Published
2017

25. We’ve got support for that: Building an open access publishing community through library support [Slides]

Author

Craft, Anna R., Fischer, Christine M., NC DOCKS at The University of North Carolina at Greensboro, Craft, Anna R., Fischer, Christine M., and NC DOCKS at The University of North Carolina at Greensboro

Abstract

Slides from a presentation given October 20, 2023 for the North Carolina Library Association (NCLA) Biennial Conference. With open access established as a sharing and publishing practice in many academic disciplines, some authors are increasingly expecting and seeking assistance in identifying opportunities and funding for their open access publishing activities. Libraries can have an important role in educating authors and helping them understand options, costs, and benefits. By contributing to open access support work, Libraries can help meet the needs of their constituents while also building community in this area.

Published
2023

26. GRASP Manual for Users

Author

Jönsson, Per Ebbe P., Gaigalas, Gediminas, Fischer, Christine, Bieroń, Jacek, Grant, I.P., Brage, Tomas, Ekman, Jörgen, Godefroid, Michel, Grumer, Jon, Li, Jiguang, Li, Wenxian, Jönsson, Per Ebbe P., Gaigalas, Gediminas, Fischer, Christine, Bieroń, Jacek, Grant, I.P., Brage, Tomas, Ekman, Jörgen, Godefroid, Michel, Grumer, Jon, Li, Jiguang, and Li, Wenxian

Abstract

grasp is a software package in Fortran 95, adapted to run in parallel under MPI, for research in atomic physics. The basic premise is that, given a wave function, any observed atomic property can be computed. Thus, the first step is always to determine a wave function. Different properties challenge the accuracy of the wave function in different ways. This software is distributed under the MIT Licence., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2023

27. An Introduction to Relativistic Theory as Implemented in GRASP

Author

Jönsson, Per Ebbe P., Godefroid, Michel, Gaigalas, Gediminas, Ekman, Jörgen, Grumer, Jon, Li, Wenxian, Li, Jiguang, Brage, Tomas, Grant, I.P., Bieroń, Jacek, Fischer, Christine, Jönsson, Per Ebbe P., Godefroid, Michel, Gaigalas, Gediminas, Ekman, Jörgen, Grumer, Jon, Li, Wenxian, Li, Jiguang, Brage, Tomas, Grant, I.P., Bieroń, Jacek, and Fischer, Christine

Abstract

Computational atomic physics continues to play a crucial role in both increasing the understanding of fundamental physics (e.g. quantum electrodynamics and correlation) and producing atomic data for interpreting observations from large-scale research facilities ranging from fusion reactors to high-power laser systems, space-based telescopes and isotope separators. A number of different computational methods, each with their own strengths and weaknesses, is available to meet these tasks. Here, we review the relativistic multiconfiguration method as it applies to the General Relativistic Atomic Structure Package [grasp2018, C. Froese Fischer, G. Gaigalas, P. Jönsson, J. Bieroń, Comput. Phys. Commun. (2018). DOI: 10.1016/j.cpc.2018.10.032]. To illustrate the capacity of the package, examples of calculations of relevance for nuclear physics and astrophysics are presented., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2023

29. Umstrukturierung der Risikoberechnung für die intensivierte Früherkennung im Deutschen Konsortium für Brust- und Eierstockkrebs

Author

Quante, Anne S., Engel, Christoph, Kiechle, Marion, Schmutzler, Rita K., and Fischer, Christine

Abstract

Brustkrebs ist die häufigste Krebserkrankung bei Frauen. Bei etwa 30 % der Betroffenen liegt eine familiäre Belastung entsprechend der Einschlusskriterien des Deutschen Konsortiums (DK) Familiärer Brust- und Eierstockkrebs vor. Frauen aus diesen Familien, bei denen eine Mutation in einem der bekannten Krebsgene nachgewiesen wird, erhalten u. a. das Angebot der Teilnahme am intensivierten Nachsorge- bzw. Früherkennungsprogramm (INFP). Wird in einer Familie allerdings keine Veränderung gefunden, basiert das Angebot auf einer Risikoberechnung. Erste Ergebnisse des DK legen es nahe, das INFP effizienter zu gestalten und diese Strategie weiter wissenschaftlich auszuwerten. Bisher wurde im DK das Risikoberechnungsprogramm Cyrillic verwendet. Da Cyrillic inhaltlich und technisch jedoch überholt ist, wird das DK die Risikoberechnung auf das Programm BOADICEA umstellen. BOADICEA wurde aus folgenden Gründen ausgewählt: (i) Es ist wissenschaftlich auf dem aktuellsten Stand, (ii) es liefert genauere Risikoberechnungen unter Einbezug neuer Risikogene und (iii) es wurde anhand von Daten des DK und weiterer Populationen entwickelt und validiert. Die Veränderung des Risikoberechnungsverfahrens beinhaltet, dass für die betroffenen Frauen abweichende Brustkrebsrisiken errechnet werden. Daher müssen neue Regeln zur Risikoklassifikation definiert werden, um die Effizienz des bisherigen INFP zu prüfen und ggf. weiter zu steigern.

Published
2024
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31. Adressen

Author

Bösch, Daniel, primary, Colla, Fernando, additional, Dommerholt, Jan, additional, Gröbli, Christian, additional, Reilich, Peter, additional, Schoser, Benedikt, additional, Simons, David G., additional, Fischer, Christine Stebler, additional, and Weissmann, Richard, additional

Published
2018
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32. Early treatment with ambrisentan of mildly elevated mean pulmonary arterial pressure associated with systemic sclerosis: a randomized, controlled, double-blind, parallel group study (EDITA study)

Author

Pan, Zixuan, Marra, Alberto M., Benjamin, Nicola, Eichstaedt, Christina A., Blank, Norbert, Bossone, Eduardo, Cittadini, Antonio, Coghlan, Gerry, Denton, Christopher P., Distler, Oliver, Egenlauf, Benjamin, Fischer, Christine, Harutyunova, Satenik, Xanthouli, Panagiota, Lorenz, Hanns-Martin, and Grünig, Ekkehard

Published
2019
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35. Right ventricular size and function under riociguat in pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension (the RIVER study)

Author

Marra, Alberto M., Halank, Michael, Benjamin, Nicola, Bossone, Eduardo, Cittadini, Antonio, Eichstaedt, Christina A., Egenlauf, Benjamin, Harutyunova, Satenik, Fischer, Christine, Gall, Henning, Ghofrani, Hossein Ardeschir, Hoeper, Marius M., Lange, Tobias J., Olsson, Karen M., Klose, Hans, and Grünig, Ekkehard

Published
2018
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38. Beyond 'Authenticities'? Preliminary Thoughts on Epistemologies of Early Music

Author

Fischer, Christine

Abstract

When browsing through performers’ websites and advertisements for recordings, early instruments, and concerts, one cannot but conclude that “authenticity” seems to still play a major role in self-definitions and marketing concepts of the “movement” of historically informed performance practice. Having already been deprived of its claims to originality in the 1980s, and meanwhile being part of the same academic establishment it battled in its early days, historically informed performance practice needed to reposition itself in terms of its similarities and particularities when compared to artistic research during the last decades. Since experimentation was one of its characterizing features in terms of repertoire, instrument building, and playing techniques, and since audience experience was a central issue from the very beginning, there seems to be much common ground with artistic research, even “avant la lettre”. But these similarities are consistently minimized by HIP promoters’ need for an othering self-definition: in many cases they seem to directly or implicitly adhere to their claims of authenticity and originality, even when speaking about situated or embodied knowledge. This paper explores the common ground of HIP and various approaches to artistic research. It reflects on the methodic paths that opened historical thinking for artistic approaches and which could likewise open HIP for establishing characteristic features beyond claims of being “authentic.&rdquo

Published
2022
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39. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

Author

Basmanav, F. Buket, primary, Cesarato, Nicole, additional, Kumar, Sheetal, additional, Borisov, Oleg, additional, Kokordelis, Pavlos, additional, Ralser, Damian J., additional, Wehner, Maria, additional, Axt, Daisy, additional, Xiong, Xing, additional, Thiele, Holger, additional, Dolgin, Vadim, additional, Gossmann, Yasmina, additional, Fricker, Nadine, additional, Dewenter, Malin Katharina, additional, Weller, Karsten, additional, Suri, Mohnish, additional, Reichenbach, Herbert, additional, Oji, Vinzenz, additional, Addor, Marie-Claude, additional, Ramirez, Karla, additional, Stewart, Helen, additional, Garcia Bartels, Natalie, additional, Weibel, Lisa, additional, Wagner, Nicola, additional, George, Susannah, additional, Kilic, Arzu, additional, Tantcheva-Poor, Iliana, additional, Stewart, Alison, additional, Dikow, Nicola, additional, Blaumeiser, Bettina, additional, Medvecz, Márta, additional, Blume-Peytavi, Ulrike, additional, Farrant, Paul, additional, Grimalt, Ramon, additional, Bertok, Sara, additional, Bradley, Lisa, additional, Eskin-Schwartz, Marina, additional, Birk, Ohad Samuel, additional, Bygum, Anette, additional, Simon, Michel, additional, Krawitz, Peter, additional, Fischer, Christine, additional, Hamm, Henning, additional, Fritz, Günter, additional, and Betz, Regina C., additional

Published
2022
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41. Anne Smith, Ina Lohr (1903-1983). Transcending the Boundaries of Early Music

Author

Fischer, Christine, Fischer, Christine, Fischer, Christine, and Fischer, Christine

Abstract

This is a book that had to be written. And that is meant in a thoroughly positive way. Ina Lohr, ‘Paul Sacher's assistant’, is a well-known figure in insider circles, who contributed immensely to the creation of the Schola Cantorum Basiliensis, one of the most important international teaching institutions for Early Music and historically informed performance practice. Lohr made a significant contribution to the emergence of the Basel Chamber Orchestra, which made a name for itself not only in Early Music but also, through regular commissions from the Sacher-family, in the field of New Music as yet another unique Basel contribution to the international music life. However, the exact nature of the contributions of Lohr is not entirely clear even to locals and insiders who did have the privilege of meeting her themselves. Especially, her own compositional activity has so far been carefully left out of the prevailing ‘image’ of the conservatively dressed and coiffed Lohr who taught ‘house music courses’ (the name of teacher training at the time).

Published
2021

44. Comparative analysis of oral and intravenous iron therapy in rat models of inflammatory anemia and iron deficiency

Author

De Souza, Lara Valente, primary, Hoffmann, Alexander, additional, Fischer, Christine, additional, Petzer, Verena, additional, Asshoff, Malte, additional, Theurl, Igor, additional, Tymoszuk, Piotr, additional, Seifert, Markus, additional, Brigo, Natascha, additional, Hilbe, Richard, additional, Demetz, Egon, additional, Von Raffay, Laura, additional, Berger, Sylvia, additional, Barros-Pinkelnig, Marina, additional, and Weiss, Guenter, additional

Published
2022
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45. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

Author

Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette, Simon, Michel, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter, Betz, Regina C., Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette, Simon, Michel, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter, and Betz, Regina C.

Abstract

Importance Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far. Objective To elucidate the genetic spectrum of UHS. Design, Setting, and Participants This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021. Main Outcomes and Measures Clinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes. Results The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene. Conclusions and Relevance This cohort study extends and gives an overview of the genetic variant spectrum of UHS based on m

Published
2022

46. Streaming Video: Which Platforms Do the University Libraries Offer?

Author

Fischer, Christine M., NC DOCKS at The University of North Carolina at Greensboro, Fischer, Christine M., and NC DOCKS at The University of North Carolina at Greensboro

Abstract

Slides from a webinar for the Research & Application Webinar Series on November 15, 2022.

Published
2022

47. ILL and Acquisitions: Working Together to Get Users What They Need When They Need It

Author

Fischer, Christine M., NC DOCKS at The University of North Carolina at Greensboro, Fischer, Christine M., and NC DOCKS at The University of North Carolina at Greensboro

Abstract

Arthur and Decker presented the plan they have developed to establish a new workflow foracquiring requested collections materials. The collaboration between acquisitions andinterlibrary loan departments seeks to improve service and ensure quick fulfillment of resourcerequests as the Libraries move toward a point-of-need model over collection building, reflectinguser expectations and shifts in Liaison roles. The pilot project established criteria for making apurchase rather than a loan, including purchasing selected English-language materials publishedin the past five years with eBook as the priority over print, and expedited shipping for physicalitems so users could rely on quick turnaround. Staff can add titles to the DDA pool via theireBook provider and primary book vendor. Communication between the departments isfacilitated by use of existing email accounts that are monitored daily. The full implementationwill start in January, monthly meetings will offer opportunities to consider modifications to thecriteria and workflow, and assessment is planned to begin in April.

Published
2022

48. Library Open Access Funding on the Ground: Workflows for a Successful OA Transition

Author

Fischer, Christine M., NC DOCKS at The University of North Carolina at Greensboro, Fischer, Christine M., and NC DOCKS at The University of North Carolina at Greensboro

Abstract

Library-funded open access publishing support at Iowa State University has been growing and has required finding scalable solutions to processes, incorporating new tools, and developing effective workflows. This article is based on a NC Serials Conference presentation that provided insights into the Library’s approach to managing author participation in open access deals with publishers.

Published
2022

49. Onboarding and training a new electronic resources librarian during the COVID-19 pandemic: A reflection

Author

Fischer, Christine M., Heilman, Katherine, NC DOCKS at The University of North Carolina at Greensboro, Fischer, Christine M., Heilman, Katherine, and NC DOCKS at The University of North Carolina at Greensboro

Abstract

Though many library practices and services were put on hold at the onset of the COVID-19 pandemic in 2020, hiring still took place in some academic libraries. This column details the process of remote onboarding in an academic library that was accustomed to in-person hiring and training, and it provides perspective from both the supervisor and the newly-hired electronic resources librarian in the UNC Greensboro University Libraries Technical Services Department. Authors seek to illustrate the process of developing a structured virtual onboarding program, as well as uncover the social challenges posed by physical distancing in a new working environment, and strive to answer the question, how does one become a part of a department when the department itself cannot meet in person?

Published
2022

50. What about Ebooks? The UNCG Libraries' Evidence-based Acquisitions Plans [slides]

Author

Burton, Marcie B., Fischer, Christine M., NC DOCKS at The University of North Carolina at Greensboro, Burton, Marcie B., Fischer, Christine M., and NC DOCKS at The University of North Carolina at Greensboro

Abstract

Slides from a presentation given March 28, 2022 for the UNCG University Libraries Virtual Learning Community series. These slides are from a talk that explains what an EBA plan is; how it differs from a DDA plan; what specific publishers offer in their plans; how the ebooks are made accessible; and how selections are made for individual titles.

Published
2022

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