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Publications by Thiele, Simone

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Number of items: 6.

Journal article

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]

Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns; Senderek, Jan (2017): Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. In: American Journal of Human Genetics, Vol. 100, No. 3: pp. 523-536 [PDF, 2MB]

Klug, Constanze; Schreiber-Katz, Olivia; Thiele, Simone; Schorling, Elisabeth; Zowe, Janet; Reilich, Peter; Walter, Maggie C.; Nagels, Klaus H. (2016): Disease burden of spinal muscular atrophy in Germany. In: Orphanet Journal of Rare Diseases 11:58 [PDF, 828kB]

Montagnese, Federica; Thiele, Simone; Wenninger, Stephan; Schoser, Benedikt (2016): Long-term whole-body vibration training in two late-onset Pompe disease patients. In: Neurological Sciences, Vol. 37, No. 8: pp. 1357-1360

Schreiber-Katz, Olivia; Klug, Constanze; Thiele, Simone; Schorling, Elisabeth; Zowe, Janet; Reilich, Peter; Nagels, Klaus H.; Walter, Maggie C. (2014): Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany. In: Orphanet Journal of Rare Diseases 9:210 [PDF, 909kB]

Walter, Maggie C.; Reilich, Peter; Thiele, Simone; Schessl, Joachim; Schreiber, Herbert; Reiners, Karlheinz; Kress, Wolfram; Mueller-Reible, Clemens; Vorgerd, Matthias; Urban, Peter; Schrank, Bertold; Deschauer, Marcus; Schlotter-Weigel, Beate; Kohnen, Ralf; Lochmueller, Hanns (2013): Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. In: Orphanet Journal of Rare Diseases 8:26 [PDF, 3MB]

This list was generated on Sun Dec 15 08:40:04 2019 CET.