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Veröffentlichungsdatum
Anzahl der Publikationen: 17
2022
Senn, Katja C.; Gumbert, Laura; Thiele, Simone; Krause, Sabine; Walter, Maggie C. und Nagels, Klaus H.
(2022):
The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review.
In: Orphanet Journal of Rare Diseases, Bd. 17, Nr. 1, 227
Mayhew, Anna G.; James, Meredith K.; Moore, Ursula; Sutherland, Helen; Jacobs, Marni; Feng, Jia; Lowes, Linda Pax; Alfano, Lindsay N.; Muni Lofra, Robert; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa-Hernandez, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurelie; Sanchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Vandevelde, Bruno; DeWolf, Brittney; Maron, Elke; Gordish-Dressman, Heather; Hilsden, Heather; Guglieri, Michela; Hogrel, Jean-Yves; Blamire, Andrew M.; Carlier, Pierre G.; Spuler, Simone; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R. und Straub, Volker
(2022):
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach.
In: Frontiers in Neurology, Bd. 13, 828525
Schorling, Elisabeth; Senn, Katja C.; Thiele, Simone; Gumbert, Laura; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Reilich, Peter und Nagels, Klaus H.
(2022):
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy.
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 1: S. 211-220
Wirner, Corinna; Thiele, Simone; Malm, Eva und Schoser, Benedikt
(2022):
Physiotherapeutische Versorgung von Erwachsenen mit Neuromuskulären Erkrankungen – Online-Befragung von Physiotherapeut*innen im Stadtgebiet München.
In: Fortschritte der Neurologie - Psychiatrie, Bd. 91, Nr. 9: S. 351-359
2021
Jacobs, Marni B.; James, Meredith K.; Lowes, Linda P.; Alfano, Lindsay N.; Eagle, Michelle; Muni Lofra, Robert; Moore, Ursula; Feng, Jia; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa-Hernandez, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurelie; Sanchez-Aguilera Praxedes, Nieves; Thiele, Simone; Siener, Catherine; Vandevelde, Bruno; DeWolf, Brittney; Maron, Elke; Guglieri, Michela; Hogrel, Jean-Yves; Blamire, Andrew M.; Carlier, Pierre G.; Spuler, Simone; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R.; Mayhew, Anna G. und Straub, Volker
(2021):
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
In: Annals of Neurology, Bd. 89, Nr. 5: S. 967-978
2020
Janisch, Maria; Boehme, Kristin; Thiele, Simone; Bock, Annette; Kirschner, Janbernd; Schara, Ulrike; Walter, Maggie C.; Nolte-Buchholtz, Silke und Hagen, Maja von der
(2020):
Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy - A patients' perspective.
In: Neuromuscular Disorders, Bd. 30, Nr. 12: S. 975-985
Wenninger, Stephan; Stahl, Kristina; Wirner, Corinna; Einvag, Krisztina; Thiele, Simone; Walter, Maggie C. und Schoser, Benedikt
(2020):
Utility of maximum inspiratory and expiratory pressures as a screening method for respiratory insufficiency in slowly progressive neuromuscular disorders.
In: Neuromuscular Disorders, Bd. 30, Nr. 8: S. 640-648
Murphy, Lindsay B.; Schreiber-Katz, Olivia; Rafferty, Karen; Robertson, Agata; Topf, Ana; Willis, Tracey A.; Heidemann, Marcel; Thiele, Simone; Bindoff, Laurence; Laurent, Jean-Pierre; Lochmueller, Hanns; Mathews, Katherine; Mitchell, Claudia; Stevenson, John Herbert; Vissing, John; Woods, Lacey; Walter, Maggie C. und Straub, Volker
(2020):
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
In: Annals of Clinical and Translational Neurology, Bd. 7, Nr. 5: S. 757-766
2019
Moore, Ursula; Jacobs, Marni; James, Meredith K.; Mayhew, Anna G.; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E.; Lofra, Robert Muni; Blamire, Andrew M.; Carlier, Pierre G.; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy; Duong, Tina; Berry, Katherine M.; Montiel-Morillo, Elena; Pedrosa-Hernandez, Irene; Holsten, Scott; Sanjak, Mohammed; Ashida, Ai; Sakamoto, Chikako; Tateishi, Takayuki; Yajima, Hiroyuki; Canal, Aurelie; Ollivier, Gwenn; Decostre, Valerie; Mendez, Juan Bosco; Praxedes, Nieves Sanchez-Aguilera; Thiele, Simone; Siener, Catherine; Shierbecker, Jeanine; Florence, Julaine M.; Vandevelde, Bruno; DeWolf, Brittney; Hutchence, Meghan; Gee, Richard; Pruegel, Juliana; Maron, Elke; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Rocha, Carolina Tesi; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Diaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Straub, Volker; Arrieta, Adrienne; Hwang, Esther; Lee, Elaine; Illa, Isabel; Gallardo, Eduard; Belmonte Jimeno, Izaskun; Llauger Rossello, Jaume; Harwick, Bruce; Sykes, Jackie; Yetter, Brent; Smith, Mark; Lapeyssonie, Bernard; Bendahan, David; Le Fur, Yann; Shahram, Attarian; Albane, Testot-Ferry; Coppenrath, Eva M.; Harris, Elizabeth; Guglieri, Michela; Evangelista, Teresinha; Murphy, Alex; Moat, Dionne; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Galley, Debra; Calore, Chiara; Stramare, Roberto; Rampado, Alessandro; Gidaro, Teresa; Turk, Suna; Servais, Laurent; Theis, Cyrille; Diabate, Oumar; Schimmoeller, Linda; Foster, Glenn; Carbonell, Pilar; Cabrera, Macarena; Morgado, Yolanda; Gala, Susana Rico; Perez, Jennifer; Sawyer, Anne Marie; Clarke, Nigel F.; Sandaradura, Sarah; Ghaoui, Roula; Cornett, Kayla; Miller, Claire; Foster, Sheryl; Peduto, Anthony; Sato, Noriko; Tamaru, Takeshi; Kobayashi, Yoko; Ashida, Ai; Nakayama, Takahiro; Segawa, Kazuhiko; Ohtaguro, Sachiko; Nakamura, Harumasa; Ohhata, Maki; Kimura, En; Endo, Makiko; Brody, Nora; Leach, Meganne E.; Toles, Allyn; Fricke, Stanley T. und Otero, Hansel J.
(2019):
Assessment of disease progression in dysferlinopathy: A 1-year cohort study.
In: Neurology, Bd. 92, Nr. 5, E461-E474
Schorling, Elisabeth; Thiele, Simone; Gumbert, Laura; Krause, Sabine; Klug, Constanze; Schreiber-Katz, Olivia; Reilich, Peter; Nagels, Klaus und Walter, Maggie C.
(2019):
Cost of illness in Charcot-Marie-Tooth neuropathy Results from Germany.
In: Neurology, Bd. 92, Nr. 17, E2027-E2037
König, Kirsten; Pechmann, Astrid; Thiele, Simone; Walter, Maggie C.; Schorling, David; Tassoni, Adrian; Lochmüller, Hanns; Müller-Reible, Clemens und Kirschner, Janbernd
(2019):
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.
In: Orphanet Journal of Rare Diseases, Bd. 14, 152
2018
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 und 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]
2017
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 und 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, Bd. 100, Nr. 3: S. 523-536
[PDF, 2MB]
2016
Montagnese, Federica; Thiele, Simone; Wenninger, Stephan und Schoser, Benedikt
(2016):
Long-term whole-body vibration training in two late-onset Pompe disease patients.
In: Neurological Sciences, Bd. 37, Nr. 8: S. 1357-1360
Klug, Constanze; Schreiber-Katz, Olivia; Thiele, Simone; Schorling, Elisabeth; Zowe, Janet; Reilich, Peter; Walter, Maggie C. und Nagels, Klaus H.
(2016):
Disease burden of spinal muscular atrophy in Germany.
In: Orphanet Journal of Rare Diseases
11:58
[PDF, 828kB]
2014
Schreiber-Katz, Olivia; Klug, Constanze; Thiele, Simone; Schorling, Elisabeth; Zowe, Janet; Reilich, Peter; Nagels, Klaus H. und 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]
2013
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 und 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]