Ages of Diagnosis, Amplification, and Early Intervention of Infants and Young Children with Hearing Loss: Findings from Parent Interviews

Authors: Prendergast, Susan G., Lartz, Maribeth Nelson, Fiedler, Barbara Casson

Source: American Annals of the Deaf. 147(1):24-30

Availability: https://muse.jhu.edu/article/384071

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

Authors: Baum, Petra, Baumgartner, Manuela, Bertsche, Astrid, Blankenburg, Markus, Denecke, Jonas, Deschauer, Marcus, Eckenweiler, Matthias, Geis, Tobias, Goldhahn, Klaus, Groß, Martin, Günther, René, Hagenacker, Tim, Hamelmann, Eckard, Husain, Ralf A., Kamm, Christoph, Kauffmann, Birgit, Koch, Jan Christoph, Löscher, Wolfgang, Ludolph, Albert, Martin, Pascal, Mensch, Alexander, Meyer zu Hörste, Gerd, Neuwirth, Christoph, Petri, Susanne, Pühringer, Manuel, Rathmann, Imke, Schäfer, Dorothee, Schimmel, Mareike, Schrank, Bertold, Schreiber-Katz, Olivia, Schwerin-Nagel, Anette, Smitka, Martin, Steinbach, Meike, Steiner, Elisabeth, Stoffels, Johannes, Theophil, Manuela, Topakian, Raffi, Türk, Matthias, Vorgerd, Matthias, Walter, Maggie C., Weiler, Markus, Wiegand, Gert, Wunderlich, Gilbert, Wurster, Claudia Diana, Zeller, Daniel, Metelmann, Moritz, Zeiner, Fiona, Pilshofer, Veronika, Rappold, Mika, Pauschek, Josefine, Reihle, Christof, Homma, Annette Karolin, Lingor, Paul, Henzi, Bettina, Reinhardt, Tabea, Holzwarth, Dorothea, Wittmann, Wolfgang, Kappel, Stefan, Freigang, Maren, Stolte, Benjamin, Martakis, Kyriakos, Classen, Georg, Roland-Schäfer, Doris, Steuernagel, Daniela, Hartmann, Hans, Fischer, Sophie, Wermuth, Marieke, Muhandes, Mohamad Tareq, Hotter, Anna, Uzelac, Zeljko, Naegel, Steffen, Wiethoff, Sarah, Braun, Nathalie, Bjelica, Bogdan, Kölbel, Heike, Angelova-Toshkina, Daniela, Wilken, Bernd, Osmanovic, Alma, Fiedler, Barbara, Plecko, Barbara, Tomforde, Maike, Voelkl, Thomas, von Moers, Arpad, Müller, Petra, Behring, Bettina, Güttsches, Anne, Reilich, Peter, Wick, Wolfgang, Stoltenburg, Corinna, Witzel, Simon, Bellut, Julia, Hoffmann, Georg Friedrich, Mörtlbauer, Kathrin, Ille, Alexandra, Schroth, Michael, Driemeyer, Joenna, Semmler, Luisa, Müller, Cornelia, Dörnbrack, Katharina, Zemlin, Michael, Geitmann, Stephanie, Lapp, Hanna Sophie, Brakemeier, Svenja, Gehrke, Tascha, Ntemiris, Klearchos, Kaiser, Nadja, Borowski, Sabine, Ramadan, Barbara, Hustedt, Ulf, Baum, Tobias, Schneider, Ilka, Akova-Oztürk, Esra, Vill, Katharina, Dibrani, Zylfie, Wohnrade, Camilla, Della-Marina, Adela, Jung, Lisa, Deba, Timo, Zobel, Joachim, Schallner, Jens, Kraut, Christina, Vollmann, Peter, Schüssler, Stephanie, Roeder, Melanie, Hiebeler, Miriam, Berberich, Nicole, Schneider, Joanna, Brauner, Brigitte, Kölker, Stefan, Pernegger, Elke, Gosk-Tomek, Magdalena, Braun, Sarah, Weiss, Deike, Machetanz, Gerrit, Langer, Thorsten, Saier, Christina, Baumann, Sandra, Hettrich, Sabine, Dworschak, Gabriel, Müller-Kaempffer, Katharina, Dittes, Isabelle, Thimm, Andreas, Quinten, Lisa, Albers, Kristina, Bevot, Andrea, Bretschneider, Christa, Dorst, Johannes, Kendzierski, Thomas, Hannibal, Iris, Bischofberger, Jasmin, Riesmeier, Tilman, Gangfuß, Andrea, Johann to Settel, Eva, Grässl, Michael, Fiebig, Susan, Hollerauer, Carmen, Seeber, Lea, Krahwinkler, Ina, Lange, Irene, Montagnese, Federica, Mann-Richter, Marcel, Wagner, Alexandra, Leypold, Christine, Saffari, Afshin, Anna, Elmecker, Wiesenhofer, Anna, Wendel, Eva-Maria, Steffens, Paula-Sophie, Wider, Sabine, Tassoni, Adrian, Dall, Andrea, Busch, Franziska, Zeisler, Daniela, Wessel, Maria, Lipka, Jaqueline, Hackemer, Andrea, Plugge, Loreen, Jansen, Eva, Roth, Erdmute, Schuster, Joachim, Koelsch, Anna, Warken-Madelung, Birgit, Schwippert, Michaela, Holtkamp, Britta, Köbbing, Katja, Claeys, Sander, Foerster, Sandy, Thiele, Simone, Rochau-Trumpp, Heidi, George, Annette, Niesert, Moritz, Neimair, Tanja, Vettori, Katia, Haverkamp, Julia, Taherpour, Jila, Hug, Juliane, Wenzel, Franziska, Bant, Christina, Baur, Ute, Bühner, Kathrin, Schlag, Melina, Ruß, Lena, Küpper, Hanna, Müller, Anja, Wollinsky, Kurt, Well, Therese, Leinert, Antonia, Andres, Barbara, Omran, Heymut, Claus, Nicole, Hagenmeyer, Anna, Schnurr, Marion, Dukic, Vladimir, Ludolph, Albert Christian, Specht, Sabine, Angermair, Verena, Hüpper, Anna, Banholzer, Daniela, Stein, Sabine, Kampowski, Tim, Richmann, Marion, Nicolai, Sylke, Atta, Omar, Meßmer, Birgit, de Vries, Heike, Rotenfusser, Elisabeth, Oscmanovic, Alma, Renger, Isabelle, Guillemot, Hélène, Lehnert, Ilka, Grünwedel, Mike, Grimm, Laura, Stocker, Guido, Kaindl, Angela M., Hoevel, Annegret, Stadler, Theresa, Fischer, Michal, Vogt, Sibylle, Gebert, Axel, Goldbach, Susanne, Kirschner, Janbernd, Lochmüller, Hanns, Müller-Felber, Wolfgang, Pechmann, Astrid, Schara-Schmidt, Ulrike, Probst-Schendzielorz, Kristina, Lang, Annina, Nitzsche, Maren, Hammer, Julie, Müller-Kaempfer, Katharina, Wirner-Piotrowski, Corinna, van der Stam, Lieske, Bongartz, Anke, Enzmann, Cornelia, Fluss, Joël, Galiart, Elea, Jacquier, David, Metzler, Dominique Baumann, Tscherter, Anne, Weiß, Claudia, Becker, Lena-Luise, Friese, Johannes, Blaschek, Astrid, Hahn, Andreas, Illsinger, Sabine, Schwartz, Oliver, Bernert, Günther, Hagen, Maja von der, Flotats-Bastardas, Marina, Schreiber, Gudrun, Schara, Ulrike, Trollmann, Regina, Horber, Veronka, Wilichowski, Ekkehard, Baumann, Matthias, Klein, Andrea, Eisenkölbl, Astrid, Köhler, Cornelia, Stettner, Georg M., Cirak, Sebahattin, Hasselmann, Oswald, Garbade, Sven F., Johannsen, Jessika, Ziegler, Andreas

Source: In The Lancet Regional Health - Europe December 2024 47

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen‐treated patients with spinal muscular atrophy

Authors: Schorling, David C., Kölbel, Heike, Hentschel, Andreas, Pechmann, Astrid, Meyer, Nancy, Wirth, Brunhilde, Rombo, Roman, Sickmann, Albert, Kirschner, Janbernd, Schara‐Schmidt, Ulrike, Lochmüller, Hanns, Roos, Andreas, Abele, Thea Beatrice, Andres, Barbara, Angelova‐Toshkina, Daniela, Baum, Petra, Baum, Tobias, Baumann, Matthias, Baumgartner, Manuela, Baur, Ute, Becker, Benedikt, Behring, Bettina, Bernert, Günther, Birsak, Theresa, Bellut, Julia, Bertsche, Astrid, Blankenburg, Markus, Blaschek, Astrid, Braun, Nathalie, Braun, Sarah, Burgenmeister, Nadine, Claus, Nicole, Cordts, Isabell, Vries, Heike, Deba, Timo, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dörnbrack, Katharina, Driemeyer, Joenna, Eckenweiler, Matthias, Eisenkölbl, Astrid, Fiedler, Barbara, Fischer, Michal, Flotats‐Bastardas, Marina, Freigang, Maren, Friese, Johannes, Gaiser, Philippa, Gebert, Axel, Geitmann, Stephanie, Goldhahn, Klaus, Grässl, Michael, Gröning, Kristina, Grosskreutz, Julian, Gruber‐Sedlmayr, Ursula, Guillemot, Helene, Günther, René, von der Hagen, Maja, Hagenacker, Tim, Hahn, Andreas, Hartmann, Hans, Hiebeler, Miriam, Hobbiebrunken, Elke, Friedrich Hoffmann, Georg, Holtkamp, Britta, Holzwarth, Dorothea, Horber, Veronka, Husain, Ralf A., Illsinger, Sabine, Jansen, Eva, Johannsen, Jessika, Kaindl, Angela, Kaiser, Nadja, Klamroth, Jennifer, Christoph Koch, Jan, Köhler, Cornelia, Koelker, Stefan, Kolzter, Kirsten, Korschinsky, Brigitte, Küpper, Hanna, Langer, Thorsten, Lehnert, Ilka, Lingor, Paul, Löscher, Wolfgang N., LoudoviciüKrug, Dana, Martakis, Kyriakos, Mayer, Iris, Metelmann, Moritz, Meyer, Sascha, von Moers, Arpad, Mueller‐Kaempffer, Katharina, Müller, Monika, Müller, Petra, Müller‐Felber, Wolfgang, Neuwirth, Christoph, Niederschweiberer, Johanna, Nolte, Anja, Odorfer, Thorsten, Omran, Heymut, Pauschek, Josefine, Pickrodt, Katrin, Plecko, Barbara, Pühringer, Manuel, Quinten, Anna Lisa, Rappold, Mika, Reihle, Christof, Reinhardt, Tabea, Rödiger, Annekathrin, Roetmann, Gerda, Saffari, Afshin, Schimmel, Mareike, Schlachter, Kurt, Schneider, Joanna, Schoene‐Bake, Christoph, Schreiber, Gudrun, Schwartz, Oliver, Schwerin‐Nagel, Anette, Schwersenz, Inge, Smitka, Martin, Stein, Sabine, Steinbach, Robert, Steiner, Elisabeth, Steuernagel, Daniela, Stögmann, Eva, Stolte, Benjamin, Stoltenburg, Corinna, Stüve, Burkhard, Tassoni, Adrian, Theophil, Manuela, Thiele, Simone, Topakian, Raffi, Trollmann, Regina, Türk, Matthias, der Stam, Lieske, Vill, Katharina, Vogt, Sibylle, Vollmann, Peter, Walter, Maggie C., Warken, Birgit, Weber, Markus, Weiler, Markus, Weiß, Claudia, Weiss, Deike, Weiss, Simone, Wenzel, Franziska, Wider, Sabine, Wiebe, Nils, Wiegand, Gert, Wilichowski, Ekkehard, Wilken, Bernd, Wochner, Katarzyna, Zeiner, Fiona, Zeisler, Daniela, Zeller, Daniel, Zemlin, Michael, Ziegler, Andreas

Source: European journal of neurology. 29(7):2084-2096

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100160592674.0x000001&indx=1&recIds=ETOCvdc_100160592674.0x000001

Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany

Authors: Willems, Laurent M., Schubert-Bast, Susanne, Grau, Janina, Hertzberg, Christoph, Kurlemann, Gerhard, Wiemer-Kruel, Adelheid, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Fiedler, Barbara, Hahn, Andreas, Hartmann, Hans, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Kieslich, Matthias, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knuf, Markus, Mayer, Thomas, Marquard, Klaus, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Noda, Anna H., Ruf, Susanne, Sauter, Matthias, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wilken, Bernd, Zöllner, Johann Philipp, Rosenow, Felix, Strzelczyk, Adam

Source: In European Journal of Paediatric Neurology November 2021 35:111-122

Long‐term efficacy, tolerability, and retention of brivaracetam in epilepsy treatment: A longitudinal multicenter study with up to 5 years of follow‐up

Authors: Strzelczyk, Adam, Zaveta, Clara, Podewils, Felix, Möddel, Gabriel, Langenbruch, Lisa, Kovac, Stjepana, Mann, Catrin, Willems, Laurent M., Schulz, Juliane, Fiedler, Barbara, Kurlemann, Gerhard, Schubert‐Bast, Susanne, Rosenow, Felix, Beuchat, Isabelle

Source: Epilepsia. 62(12):2994-3004

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100136017108.0x000001&indx=1&recIds=ETOCvdc_100136017108.0x000001

Genotype-phenotype correlation on 45 individuals with West syndrome

Authors: Krey, Ilona, Krois-Neudenberger, Janna, Hentschel, Julia, Syrbe, Steffen, Polster, Tilman, Hanker, Britta, Fiedler, Barbara, Kurlemann, Gerhardt, Lemke, Johannes R.

Source: In European Journal of Paediatric Neurology March 2020 25:134-138

The prognostic value of sleep spindles in long-term outcome of West Syndrome

Authors: Spenner, Benjamin, Krois-Neudenberger, Janna, Kurlemann, Gerhard, Althaus, Jürgen, Schwartz, Oliver, Fiedler, Barbara

Source: In European Journal of Paediatric Neurology November 2019 23(6):827-831

Multidisciplinary Sensitivity Analysis of the Cooling System of a High-Pressure Turbine Blade in the Pre-Design Phase
Turbomachinery technical conference

Authors: Fiedler, Barbara, Muller, Yannick, Voigt, Matthias, Mailach, Ronald

Source: Proceedings of the ASME Turbo Expo .... 2D:V02DT36A002-V02DT36A002

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN607191448&indx=1&recIds=ETOCCN607191448

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Authors: Park, Julien H., Hogrebe, Max, Fobker, Manfred, Brackmann, Renate, Fiedler, Barbara, Reunert, Janine, Rust, Stephan, Tsiakas, Konstantinos, Santer, René, Grüneberg, Marianne, Marquardt, Thorsten

Source: In Genetics in Medicine February 2018 20(2):259-268

A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany

Authors: Strzelczyk, Adam, Schubert‐Bast, Susanne, Bast, Thomas, Bettendorf, Ulrich, Fiedler, Barbara, Hamer, Hajo M., Herting, Arne, Kalski, Malin, Kay, Lara, Kieslich, Matthias, Klein, Karl Martin, Kluger, Gerhard, Kurlemann, Gerhard, Mayer, Thomas, Neubauer, Bernd A., Polster, Tilman, von Spiczak, Sarah, Stephani, Ulrich, Trollmann, Regina, Wiemer‐Kruel, Adelheid, Wolff, Markus, Irwin, John, Carroll, Joe, Pritchard, Clive, Rosenow, Felix

Source: Epilepsia. 60(8):1697-1710

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087239434.0x000001&indx=1&recIds=ETOCvdc_100087239434.0x000001

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Comparison of Two Methods for the Sensitivity Analysis of a One-Dimensional Cooling Flow Network of a High-Pressure-Turbine Blade
Proceedings of the ASME Turbo Expo: Turbomachinery Technical Conference and Exposition -2020, GT2020 Vol 2D Turbomachinery

Authors: Fiedler, Barbara, Muller, Yannick, Voigt, Matthias, Mailach, Ronald

Source: Proceedings of the ASME Turbo Expo .... 2D:V02DT38A030-V02DT38A030

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN606583537&indx=1&recIds=ETOCCN606583537

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Authors: Park, Julien H, Hogrebe, Max, Fobker, Manfred, Brackmann, Renate, Fiedler, Barbara, Reunert, Janine, Rust, Stephan, Tsiakas, Konstantinos, Santer, René, Grüneberg, Marianne, Marquardt, Thorsten

Source: Genetics in medicine. 20(2):259-268

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129950245.0x000001&indx=1&recIds=ETOCvdc_100129950245.0x000001

Comprehensive Geometric Description of Manufacturing Scatter of High Pressure Turbine Nozzle Guide Vanes for Probabilistic CFD Analysis
Turbomachinery technical conference

Authors: Voigt, Paul, Högner, Lars, Fiedler, Barbara, Voigt, Matthias, Mailach, Ronald, Meyer, Marcus, Nasuf, Alkin

Source: Proceedings of the ASME Turbo Expo .... 2D:V02DT46A020-V02DT46A020

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN604353529&indx=1&recIds=ETOCCN604353529

A Case Report on Juvenile Neuromyelitis Optica: Early Onset, Long Remission Period, and Atypical Treatment Response

Authors: Elpers, Christiane, Gross, Catharina, Fiedler, Barbara, Meuth, Sven, Kurlemann, Gerhard

Source: Neuropediatrics. 46(4):292-295

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100166321718.0x000001&indx=1&recIds=ETOCvdc_100166321718.0x000001

Effectiveness and Tolerability of Perampanel in Children and Adolescents with Refractory Epilepsies: First Experiences

Authors: Biró, Anna, Stephani, Ulrich, Tarallo, Tiziana, Bast, Thomas, Schlachter, Kurt, Fleger, Martin, Kurlemann, Gerhard, Fiedler, Barbara, Leiz, Steffen, Nikanorova, Marina, Wolff, Markus, Müller, Arnd, Selch, Christina, Staudt, Martin, Kluger, Gerhard

Source: Neuropediatrics. 46(2):110-115

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163919634.0x000001&indx=1&recIds=ETOCvdc_100163919634.0x000001

Mitochondrial DNA mutations in Medulloblastoma.

Authors: Funke, Viktoria L. E., Sandmann, Sarah, Melcher, Viktoria, Seggewiss, Jochen, Horvath, Judit, Jäger, Natalie, Kool, Marcel, Jones, David T. W., Pfister, Stefan M., Milde, Till, Rutkowski, Stefan, Mynarek, Martin, Varghese, Julian, Sträter, Ronald, Rust, Stephan, Seelhöfer, Anja, Reunert, Janine, Fiedler, Barbara, Schüller, Ulrich, Marquardt, Thorsten

Source: Acta Neuropathologica Communications; 7/27/2023, Vol. 11 Issue 1, p1-4, 4p

Subject Terms: MITOCHONDRIAL DNA, MEDULLOBLASTOMA, DNA mutational analysis, GENETIC mutation

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

Authors: Schröder, Simone, Yigit, Gökhan, Li, Yun, Altmüller, Janine, Büttel, Hans-Martin, Fiedler, Barbara, Kretzschmar, Christoph, Nürnberg, Peter, Seeger, Jürgen, Serpieri, Valentina, Valente, Enza Maria, Wollnik, Bernd, Boltshauser, Eugen, Brockmann, Knut

Source: Orphanet Journal of Rare Diseases; 5/2/2023, Vol. 18 Issue 1, p1-11, 11p

Subject Terms: APRAXIA, JOUBERT syndrome, ATAXIA telangiectasia, GENETIC variation, SCIENTIFIC observation, AGENESIS of corpus callosum

4D MR imaging of cerebrospinal fluid flow in Chiari I malformation with and without syringomyelia and flow changes after decompressive surgery

Authors: Kröger Jan, Juettner Alena, Brentrup Angela, Fiedler Barbara, Crelier Gerard, Schwindt Wolfram, Niederstadt Thomas, Heindel Walter, Maintz David, Bunck Alexander C

Source: Journal of Cardiovascular Magnetic Resonance, Vol 14, Iss Suppl 1, p W1 (2012)

Subject Terms: Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/1097-6647; https://doaj.org/toc/1532-429X

Access URL: https://doaj.org/article/e3de1a65cf08484d9b34830b66c5d8b5