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Publications by Kostera-Pruszczyk, Anna

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Number of items: 3.

Journal article

Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne; Haack, Tobias B. (2018): Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. In: American Journal of Human Genetics, Vol. 103, No. 5: pp. 817-825

Wood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne; Campbell, Craig; Cossette, Louise; Jimenez-Moreno, Aura Cecilia; Dai, Yi; Dawkins, Hugh; Diaz Manera, Jorge Alberto; Dogan, Celine; El Sherif, Rasha; Fossati, Barbara; Graham, Caroline; Hilbert, James; Kastreva, Kristinia; Kimura, En; Korngut, Lawrence; Kostera-Pruszczyk, Anna; Lindberg, Christopher; Lindvall, Björn; Luebbe, Elizabeth; Lusakowska, Anna; Mazanec, Radim; Meola, Giovani; Orlando, Liannna; Takahashi, Masanori P.; Peric, Stojan; Puymirat, Jack; Rakocevic-Stojanovic, Vidosava; Rodrigues, Miriam; Roxburgh, Richard; Schoser, Benedikt; Segovia, Sonia; Shatillo, Andriy; Thiele, Simone; Tournev, Ivailo; Engelen, Baziel van; Vohanka, Stanislav; Lochmüller, Hanns (2018): Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. In: Orphanet Journal of Rare Diseases 13:155 [PDF, 1MB]

Oh, Shin J.; Shcherbakova, Natalya; Kostera-Pruszczyk, Anna; Alsharabati, Mohammad; Dimachkie, Mazen; Munoz Blanco, Jose; Brannagan, Thomas; Lavrnic, Dragana; Shieh, Perry B.; Vial, Christophe; Meisel, Andreas; Komoly, Samuel; Schoser, Benedikt; Sivakumar, Kumaraswamy; So, Yuen (2016): Amifampridine phosphate (Firdapse((R))) is effective and safe in a phase 3 clinical trial in LEMS. In: Muscle & Nerve, Vol. 53, No. 5: pp. 717-725

This list was generated on Sat Aug 8 01:44:20 2020 CEST.