Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.

Autor: Oswald, Susanne L., Steinbrücker, Katja, Achleitner, Melanie T., Göschl, Elisabeth, Bittner, Reginald E., Schmidt, Wolfgang M., Tiefenthaler, Elke, Hammerl, Emma, Eisl, Anna, Mayr, Doris, Mayr, Johannes A., Wortmann, Saskia B.

Publikováno v: Neuropediatrics; Oct2023, Vol. 54 Issue 5, p351-355, 5p

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

Autor: Pechmann, Astrid, Behrens, Max, Dörnbrack, Katharina, Tassoni, Adrian, Wenzel, Franziska, Stein, Sabine, Vogt, Sibylle, Zöller, Daniela, Bernert, Günther, Hagenacker, Tim, Schara-Schmidt, Ulrike, Walter, Maggie C., Bertsche, Astrid, Vill, Katharina, Baumann, Matthias, Baumgartner, Manuela, Cordts, Isabell, Eisenkölbl, Astrid, Flotats-Bastardas, Marina, Friese, Johannes, Günther, René, Hahn, Andreas, Horber, Veronka, Husain, Ralf A., Illsinger, Sabine, Jahnel, Jörg, Johannsen, Jessika, Köhler, Cornelia, Kölbel, Heike, Müller, Monika, von Moers, Arpad, Schwerin-Nagel, Annette, Reihle, Christof, Schlachter, Kurt, Schreiber, Gudrun, Schwartz, Oliver, Smitka, Martin, Steiner, Elisabeth, Trollmann, Regina, Weiler, Markus, Weiß, Claudia, Wiegand, Gert, Wilichowski, Ekkehard, Ziegler, Andreas, Lochmüller, Hanns, Kirschner, Janbernd, Ameshofer, Lisa, Andres, Barbara, Angelova-Toshkina, Daniela, Banholzer, Daniela, Bant, Christina, Baum, Petra, Baumann, Sandra, Baur, Ute, Becker, Benedikt, Behring, Bettina, Bellut, Julia, Bevot, Andrea, Bischofberger, Jasmin, Bitzan, Lisa, Bjelica, Bogdan, Blankenburg, Markus, Böger, Sandra, Bonetti, Friederike, Bongartz, Anke, Brakemeier, Svenja, Bratka, Lisa, Braun, Nathalie, Braun, Sarah, Brauner, Brigitte, Bretschneider, Christa, Burgenmeister, Nadine, Burke, Bea, Cirak, Sebahattin, Dall, Andrea, de Vries, Heike, Marina, Adela Della, Denecke, Jonas, Deschauer, Marcus, Dibrani, Zylfie, Diebold, Uta, Dondit, Lutz, Drebes, Jessica, Driemeyer, Joenna, Dukic, Vladimir, Eckenweiler, Matthias, Eminger, Mirjam, Fischer, Michal, Fischer, Cornelia, Freigang, Maren, Gaiser, Philippa, Gangfuß, Andrea, Geitmann, Stephanie, George, Annette, Gosk-Tomek, Magdalena, Grinzinger, Susanne, Gröning, Kristina, Groß, Martin, Güttsches, Anne-Katrin, Hagenmeyer, Anna, Hartmann, Hans, Haverkamp, Julia, Hiebeler, Miriam, Hoevel, Annegret, Hoffmann, Georg Friedrich, Holtkamp, Britta, Holzwarth, Dorothea, Homma, Annette, Horneff, Viola, Hörnig, Carolin, Hotter, Anna, Hubert, Andrea, Huppke, Peter, Jansen, Eva, Jung, Lisa, Kaiser, Nadja, Kappel, Stefan, Katharina, Bolte, Koch, Johannes, Kölke, Stefan, Korschinsky, Brigitte, Kostede, Franziska, Krause, Karsten, Küpper, Hanna, Lang, Annina, Lange, Irene, Langer, Thorsten, Lechner, Yvonne, Lehmann, Helmar, Leypold, Christine, Lingor, Paul, Lipka, Jaqueline, Löscher, Wolfgang, Luiking, Antje, Machetanz, Gerrit, Malm, Eva, Martakis, Kyriakos, Menzen, Bettina, Metelmann, Moritz, Meyer zu Hörste, Gerd, Montagnese, Federica, Mörtlbauer, Kathrin, Müller, Petra, Müller, Anne, Müller, Anja, Müschen, Lars, Neuwirth, Christoph, Niesert, Moritz, Pauschek, Josefine, Pernegger, Elke, Petri, Susanne, Pilshofer, Veronika, Plecko, Barbara, Pollok, Jürgen, Preisel, Martin, Pühringer, Manuel, Quinten, Anna Lisa, Raffler, Sabine, Ramadan, Barbara, Rappold, Mika, Rauscher, Christian, Reckmann, Kerstin, Reinhardt, Tabea, Röder, Melanie, Roland-Schäfer, Doris, Roth, Erdmute, Ruß, Lena, Saffari, Afshin, Schimmel, Mareike, Schlag, Melina, Schlotter-Weigel, Beate, Schneider, Joanna, Schöne-Bake, Jan-Christoph, Schorling, David, Schreiner, Isabella, Schüssler, Stephanie, Schwarzbach, Michaela, Schwippert, Michaela, Semmler, Luisa, Smuda, Karin, Sprenger-Svacina, Alina, Stadler, Theresa, Steffens, Paula, Steuernagel, Daniela, Stolte, Benjamin, Stoltenburg, Corinna, Tasch, Gehrke, Thimm, Andreas, Tiefenthaler, Elke, Topakian, Raffi, Türk, Matthias, van der Stam, Lieske, Vettori, Katia, Vollmann, Peter, Vorgerd, Matthias, Weiss, Deike, Wenninger, Stephan, Werring, Svea, Wessel, Maria, Weyen, Ute, Wider, Sabine, Wiebe, Nils Ole, Wiesenhofer, Anna, Wiethoff, Sarah, Wirner, Corinna, Wohnrade, Camilla, Wunderlich, Gilbert, Zeller, Daniel, Zemlin, Michael, Zobel, Joachim

Background The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0706eb3a24794a3a8ab59b2287af7ff7
https://opus4.kobv.de/opus4-fau/files/21604/s13023-022-02547-8.pdf

Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual.

Autor: Steinbrücker, Katja, Tiefenthaler, Elke, Schernthaner, Eva-Maria, Jungwirth, Julia, Wortmann, Saskia B.

Publikováno v: Neuropediatrics; Feb2023, Vol. 54 Issue 1, p78-81, 4p