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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 23

Zeitschriftenartikel

Weiß, Claudia; Ziegler, Andreas; Becker, Lena-Luise; Johannsen, Jessika; Brennenstuhl, Heiko; Schreiber, Gudrun; Flotats-Bastardas, Marina; Stoltenburg, Corinna; Hartmann, Hans; Illsinger, Sabine; Denecke, Jonas; Pechmann, Astrid; Müller-Felber, Wolfgang; Vill, Katharina; Blaschek, Astrid; Smitka, Martin; Stam, Lieske van der; Weiss, Katja; Winter, Benedikt; Goldhahn, Klaus; Plecko, Barbara; Horber, Veronka; Bernert, Günther; Husain, Ralf A.; Rauscher, Christian; Trollmann, Regina; Garbade, Sven F.; Hahn, Andreas; Hagen, Maja von der und Kaindl, Angela M. (2022): Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study. In: Lancet Child & Adolescent Health, Bd. 6, Nr. 1: S. 17-27

Pechmann, Astrid; Behrens, Max; Doernbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zoeller, Daniela; Bernert, Gunther; Hagenacker, Tim; Walter, Maggie C.; Bertsche, Astrid; Vill, Katharina; Baumann, Matthias; Baumgartner, Manuela; Cordts, Isabell; Eisenkoelbl, Astrid; Flotats-Bastardas, Marina; Friese, Johannes; Guenther, Rene; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; Illsinger, Sabine; Jahnel, Jörg; Johannsen, Jessika; Koehler, Cornelia; Koelbel, Heike; Mueller, Monika; Moers, Arpad von; 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; Lochmueller, Hanns und Kirschner, Janbernd (2022): Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study. In: Orphanet Journal of Rare Diseases, Bd. 17, Nr. 1, 384

Enax-Krumova, Elena K.; Dahlhaus, Iris; Goerlach, Jonas; Claeys, Kristl G.; Montagnese, Federica; Schneider, Llka; Sturm, Dietrich; Fangerau, Tanja; Schlierbach, Hannah; Roth, Angela; Wanschitz, Julia V.; Loescher, Wolfgang N.; Guettsches, Anne-Katrin; Vielhaber, Stefan; Hasseli, Rebecca; Zunk, Lea; Kraemer, Heidrun H.; Hahn, Andreas; Schoser, Benedikt; Rosenbohm, Angela und Schaenzer, Anne (2022): Small fiber involvement is independent from clinical pain in late-onset Pompe disease. In: Orphanet Journal of Rare Diseases, Bd. 17, Nr. 1, 177

Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Schwersenz, Inge; Walter, Maggie C.; Baumann, Matthias; Baumgartner, Manuela; Deschauer, Marcus; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; Illsinger, Sabine; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; Müller, Monika; Moers, Arpad von; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Stögmann, Eva; Trollmann, Regina; Vill, Katharina; Weiß, Claudia; Wiegand, Gert; Ziegler, Andreas; Lochmüller, Hanns und Kirschner, Janbernd (2022): Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. In: Brain, Bd. 146, Nr. 2: S. 668-677

Westphal, Dominik S.; Mastantuono, Elisa; Seidel, Heide; Riedhammer, Korbinian M.; Hahn, Andreas; Vill, Katharina und Wagner, Matias (2022): There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome. In: Gene, Bd. 814, 146167

Bernert, Guenther; Hahn, Andreas; Köhler, Cornelia; Meyer, Sascha; Schara, Ulrike; Schlachter, Kurt; Trollmann, Regina und Walter, Maggie C. (2021): Expertenempfehlung: Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne. In: Der Nervenarzt, Bd. 92, Nr. 4: S. 359-366 [PDF, 338kB]

Willems, Laurent M.; Rosenow, Felix; Schubert-Bast, Susanne; Kurlemann, Gerhard; Zoellner, Johann Philipp; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Ebrahimi-Fakhari, Daniel; Grau, Janina; Hahn, Andreas; Hartmann, Hans; Hertzberg, Christoph; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Klein, Karl Martin; Klotz, Kerstin A.; Kluger, Gerhard; Knake, Susanne; Knuf, Markus; Marquard, Klaus; Mayer, Thomas; Meyer, Sascha; Muhle, Hiltrud; Mueller-Schlueter, Karen; Podewils, Felix von; Ruf, Susanne; Sauter, Matthias; Schaefer, Hannah; Schlump, Jan-Ulrich; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wilken, Bernd; Zukunft, Bianca und Strzelczyk, Adam (2021): Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives. In: Cns Drugs, Bd. 35, Nr. 10: S. 1107-1122

Strzelczyk, Adam; Grau, Janina; Bast, Thomas; Bertsche, Astrid; Bettendorf, Ulrich; Hahn, Andreas; Hartmann, Hans; Hertzberg, Christoph; Hornemann, Frauke; Immisch, Ilka; Jacobs, Julia; Klotz, Kerstin A.; Kluger, Gerhard; Knake, Susanne; Knuf, Markus; Kurlemann, Gerhard; Marquard, Klaus; Mayer, Thomas; Meyer, Sascha; Muhle, Hiltrud; Mueller-Schlueter, Karen; Podewils, Felix von; Rosenow, Felix; Ruf, Susanne; Sauter, Matthias; Schaefer, Hannah; Schlump, Jan-Ulrich; Schubert-Bast, Susanne; Syrbe, Steffen; Thiels, Charlotte; Trollmann, Regina; Wiemer-Kruel, Adelheid; Wilken, Bernd; Zukunft, Bianca und Zoellner, Johann Philipp (2021): Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature. In: Expert Review of Clinical Pharmacology, Bd. 14, Nr. 6: S. 749-760

Schaenzer, Anne; Achleitner, Melanie T.; Truembach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M.; Greif, Philipp A.; Vosberg, Sebastian; Hummer, Blake; Feichtinger, Rene G.; Mayr, Johannes A.; Wortmann, Saskia B.; Aichner, Heidi; Rudnik-Schoeneborn, Sabine; Ruiz, Anna; Gabau, Elisabeth; Sanchez, Jacobo Perez; Ellard, Sian; Homfray, Tessa; Stals, Karen L.; Wurst, Wolfgang; Neubauer, Bernd A.; Acker, Till; Bohlander, Stefan K.; Asensio, Cedric; Besmond, Claude; Alkuraya, Fowzan S.; AlSayed, Moenaldeen D.; Hahn, Andreas und Weber, Axel (2021): Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. In: Annals of Neurology, Bd. 90, Nr. 1: S. 143-158 [PDF, 7MB]

Saffari, Afshin; Cannet, Claire; Blaschek, Astrid; Hahn, Andreas; Hoffmann, Georg F.; Johannsen, Jessika; Kirsten, Romy; Kockaya, Musa; Kölker, Stefan; Müller-Felber, Wolfgang; Roos, Andreas; Schäfer, Hartmut; Schara, Ulrike; Spraul, Manfred; Trefz, Friedrich K.; Vill, Katharina; Wick, Wolfgang; Weiler, Markus; Okun, Jürgen G. und Ziegler, Andreas (2021): H-1-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy. In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 441

Hahn, Andreas; Lampe, Christina; Boentert, Matthias; Hundsberger, Thomas; Loescher, Wolfgang; Wenninger, Stephan; Ziegler, Andreas; Lagler, Florian; Ballhausen, Diana; Schlegel, Thomas und Schoser, Benedikt (2021): Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum. In: Fortschritte der Neurologie Psychiatrie, Bd. 89, Nr. 12: S. 630-636

Bremova-Ertl, Tatiana; Claassen, Jens; Foltan, Tomas; Gascon-Bayarri, Jordi; Gissen, Paul; Hahn, Andreas; Hassan, Anhar; Hennig, Anita; Jones, Simon A.; Kolnikova, Miriam; Martakis, Kyriakos; Raethjen, Jan; Ramaswami, Uma; Sharma, Reena und Schneider, Susanne A. (2021): Efficacy and safety of N-acetyl-l-leucine in Niemann-Pick disease type C. In: Journal of Neurology, Bd. 269, Nr. 3: S. 1651-1662

Jarius, Sven; Lechner, Christian; Wendel, Eva M.; Baumann, Matthias; Breu, Markus; Schimmel, Mareike; Karenfort, Michael; Marina, Adela Della; Merkenschlager, Andreas; Thiels, Charlotte; Blaschek, Astrid; Salandin, Michela; Leiz, Steffen; Leypoldt, Frank; Pschibul, Alexander; Hackenberg, Annette; Hahn, Andreas; Syrbe, Steffen; Strautmanis, Jurgis; Haeusler, Martin; Krieg, Peter; Eisenkoelbl, Astrid; Stoffels, Johannes; Eckenweiler, Matthias; Ayzenberg, Ilya; Haas, Jürgen; Hoeftberger, Romana; Kleiter, Ingo; Korporal-Kuhnke, Mirjam; Ringelstein, Marius; Ruprecht, Klemens; Siebert, Nadja; Schanda, Kathrin; Aktas, Orhan; Paul, Friedemann; Reindl, Markus; Wildemann, Brigitte und Rostasy, Kevin (2020): Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients. In: Journal of Neuroinflammation, Bd. 17, Nr. 1, 262

Hahn, Andreas; Hennermann, Julia B.; Huemer, Martina; Kampmann, Christoph; Marquardt, Thorsten; Mengel, Eugen; Müller-Felber, Wolfgang; Muschol, Nicole Maria; Rohrbach, Marianne und Stehling, Florian (2020): Diagnosis and Care of Infants and Children with Pompe Disease. In: Klinische Pädiatrie, Bd. 232, Nr. 2: S. 55-61

Wendel, Eva-Maria; Baumann, Matthias; Barisic, Nina; Blaschek, Astrid; Koch, Eliana Coelho de Oliveira; Della Marina, Adela; Diepold, Katharina; Hackenberg, Annette; Hahn, Andreas; Kalle, Thekla von; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Leiz, Steffen; Merkenschlager, Andreas; Nosadini, Margherita; Sartori, Stefano; Schanda, Kathrin; Schimmel, Mareike; Seemann, Larissa; Tuengler, Victoria; Waltz, Stephan; Wegener-Panzer, Andreas; Wiegand, Gert; Reindl, Markus und Rostasy, Kevin (2020): High association of MOG-IgG antibodies in children with bilateral optic neuritis. In: European Journal of Paediatric Neurology, Bd. 27: S. 86-93

Ziegler, Andreas; Wilichowski, Ekkehard; Schara, Ulrike; Hahn, Andreas; Müller-Felber, Wolfgang; Johannsen, Jessika; Hagen, Maja von der; Moers, Arpad von; Stoltenburg, Corinna; Saffari, Afshin; Walter, Maggie C.; Husain, Ralf A.; Pechmann, Astrid; Köhler, Cornelia; Horber, Veronka; Schwartz, Oliver und Kirschner, Janbernd (2020): Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101. In: Nervenarzt, Bd. 91, Nr. 6: S. 518-529

Kirschner, Janbernd; Bernert, Guenther; v der Hagen, Maja; Hahn, Andreas; Johannsen, Jessika; Klein, Andrea; Müller-Felber, Wolfgang; Ziegler, Andreas und Schara, Ulrike (2020): Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec. Stellungnahme der Gesellschaft für Neuropädiatrie. In: Monatsschrift Kinderheilkunde, Bd. 168, Nr. 10: S. 938-941

Saffari, Afshin; Broesse, Ines; Wiemer-Kruel, Adelheid; Wilken, Bernd; Kreuzaler, Paula; Hahn, Andreas; Bernhard, Matthias K.; van Tilburg, Cornelis M.; Hoffmann, Georg F.; Gorenflo, Matthias; Hethey, Sven; Kaiser, Olaf; Koelker, Stefan; Wagner, Robert; Witt, Olaf; Merkenschlager, Andreas; Moeckel, Andreas; Roser, Timo; Schlump, Jan-Ulrich; Serfling, Antje; Spiegler, Juliane; Milde, Till; Ziegler, Andreas und Syrbe, Steffen (2019): Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study. In: Orphanet Journal of Rare Diseases, Bd. 14, UNSP 96

Schoser, Benedikt; Hahn, Andreas; James, Emma; Gupta, Digant; Gitlin, Matthew und Prasad, Suyash (2019): A Systematic Review of the Health Economics of Pompe Disease. In: Pharmacoeconomics-Open, Bd. 3, Nr. 4: S. 479-493

Kouz, Karim; Lissewski, Christina; Spranger, Stephanie; Mitter, Diana; Riess, Angelika; Lopez-Gonzalez, Vanesa; Lüttgen, Sabine; Aydin, Hatip; Deimling, Florian von; Evers, Christina; Hahn, Andreas; Hempel, Maja; Issa, Ulrike; Kahlert, Anne-Karin; Lieb, Adrian; Villavicencio-Lorini, Pablo; Juliana Ballesta-Martinez, Maria; Nampoothiri, Sheela; Ovens-Raeder, Angela; Puchmajerová, Alena; Satanovskij, Robin; Seidel, Heide; Unkelbach, Stephan; Zabel, Bernhard; Kutsche, Kerstin und Zenker, Martin (2016): Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. In: Genetics in Medicine, Bd. 18, Nr. 12: S. 1226-1234

Herbst, Saskia M.; Proepper, Christiane R.; Geis, Tobias; Borggraefe, Ingo; Hahn, Andreas; Debus, Otfried; Haeussler, Martin; Gersdorff, Gero von; Kurlemann, Gerhard; Ensslen, Matthias; Beaud, Nathalie; Budde, Joerg; Gilbert, Michael; Heiming, Ralf; Morgner, Rita; Philippi, Heike; Ross, Sophia; Strobl-Wildemann, Gertrud; Muelleder, Kerstin; Vosschulte, Paul; Morris-Rosendahl, Deborah J.; Schuierer, Gerhard und Hehr, Ute (2016): LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. In: Brain & Development, Bd. 38, Nr. 4: S. 399-406

Lechner, Christian; Baumann, Matthias; Hennes, Eva-Maria; Schanda, Kathrin; Marquard, Klaus; Karenfort, Michael; Leiz, Steffen; Pohl, Daniela; Venkateswaran, Sunita; Pritsch, Martin; Koch, Johannes; Schimmel, Mareike; Häusler, Martin; Klein, Andrea; Blaschek, Astrid; Thiels, Charlotte; Lücke, Thomas; Gruber-Sedlmayr, Ursula; Kornek, Barbara; Hahn, Andreas; Leypoldt, Frank; Sandrieser, Torsten; Gallwitz, Helge; Stoffels, Johannes; Korenke, Christoph; Reindl, Markus und Rostásy, Kevin (2016): Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease. In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 87, Nr. 8: S. 897-905 [PDF, 777kB]

Schuchardt, Jan Philipp; Schneider, Inga; Meyer, Henrike; Neubronner, Juliane; Schacky, Clemens von und Hahn, Andreas (2011): Incorporation of EPA and DHA into plasma phospholipids in response to different omega-3 fatty acid formulations - a comparative bioavailability study of fish oil vs. krill oil. In: Lipids in Health and Disease 10:145 [PDF, 311kB]

Diese Liste wurde am Sat Dec 21 21:10:26 2024 CET erstellt.