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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 58
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
Donandt, Tina; Hintze, Stefan; Krause, Sabine; Wolf, Eckhard; Schoser, Benedikt; Walter, Maggie C. und Meinke, Peter
(2022):
Isolation and Characterization of Primary DMD Pig Muscle Cells as an In Vitro Model for Preclinical Research on Duchenne Muscular Dystrophy.
In: Life-Basel, Bd. 12, Nr. 10
[PDF, 3MB]
Stirm, Michael; Fonteyne, Lina Marie; Shashikadze, Bachuki; Stoeckl, Jan B.; Kurome, Mayuko; Kessler, Barbara; Zakhartchenko, Valeri; Kemter, Elisabeth; Blum, Helmut; Arnold, Georg J.; Matiasek, Kaspar; Wanke, Ruediger; Wurst, Wolfgang; Nagashima, Hiroshi; Knieling, Ferdinand; Walter, Maggie C.; Kupatt, Christian; Froehlich, Thomas; Klymiuk, Nikolai; Blutke, Andreas und Wolf, Eckhard
(2022):
Pig models for Duchenne muscular dystrophy-from disease mechanisms to validation of new diagnostic and therapeutic concepts.
In: Neuromuscular Disorders, Bd. 32, Nr. 7: S. 543-556
Moore, Ursula; Araujo, Ericky Caldas de Almeida; Reyngoudt, Harmen; Gordish-Dressman, Heather; Smith, Fiona E.; Wilson, Ian; James, Meredith; Mayhew, Anna; Rufibach, Laura; 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; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Blamire, Andrew M.; Straub, Volker; Carlier, Pierre G. und Diaz-Manera, Jordi
(2022):
Water T2 could predict functional decline in patients with dysferlinopathy.
In: Journal of Cachexia Sarcopenia and Muscle, Bd. 13, Nr. 6: S. 2888-2897
Moore, Ursula; Fernandez-Torron, Roberto; Jacobs, Marni; Gordish-Dressman, Heather; Diaz-Manera, Jordi; James, Meredith K.; Mayhew, Anna G.; Harris, Elizabeth; Guglieri, Michela; Rufibach, Laura E.; Feng, Jia; 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; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R.; Bushby, Kate; Bourke, John und Straub, Volker
(2022):
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
In: Muscle & Nerve, Bd. 65, Nr. 5: S. 531-540
Landfeldt, Erik; Zhang, Rongrong; Childs, Anne-Marie; Johannsen, Jessika; O'Rourke, Declan; Sejersen, Thomas; Strautmanis, Jurgis; Schara-Schmidt, Ulrike; Tulinius, Mar; Walter, Maggie C.; Willis, Tracey und Buesch, Katharina
(2022):
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.
In: Journal of Medical Economics, Bd. 25, Nr. 1: S. 808-816
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
Erdmann, Hannes; Scharf, Florentine; Gehling, Stefanie; Benet-Pages, Anna; Jakubiczka, Sibylle; Becker, Kerstin; Seipelt, Maria; Kleefeld, Felix; Knop, Karl Christian; Prott, Eva Christina; Hiebeler, Miriam; Montagnese, Federica; Glaeser, Dieter; Vorgerd, Matthias; Hagenacker, Tim; Walter, Maggie C.; Reilich, Peter; Neuhann, Teresa; Zenker, Martin; Holinski-Feder, Elke; Schoser, Benedikt und Abicht, Angela
(2022):
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
In: Brain, Bd. 146, Nr. 4: S. 1388-1402
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
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
Hiebeler, Miriam; Franke, Raimo; Ingenerf, Maria; Krause, Sabine; Mohassel, Payam; Pak, Katherine; Mammen, Andrew; Schoser, Benedikt; Boennemann, Carsten G. und Walter, Maggie C.
(2022):
Slowly Progressive Limb-Girdle Weakness and HyperCKemia - Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?
In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 5: S. 607-614
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
2021
Stirm, Michael; Fonteyne, Lina Marie; Shashikadze, Bachuki; Lindner, Magdalena; Chirivi, Maila; Lange, Andreas; Kaufhold, Clara; Mayer, Christian; Medugorac, Ivica; Kessler, Barbara; Kurome, Mayuko; Zakhartchenko, Valeri; Hinrichs, Arne; Kemter, Elisabeth; Krause, Sabine; Wanke, Rüdiger; Arnold, Georg J.; Wess, Gerhard; Nagashima, Hiroshi; de Angelis, Marin Hrabe; Flenkenthaler, Florian; Kobelke, Levin Arne; Bearzi, Claudia; Rizzi, Roberto; Bähr, Andreas; Reese, Sven 
ORCID: https://orcid.org/0000-0002-4605-9791; Matiasek, Kaspar; Walter, Maggie C.; Kupatt, Christian; Ziegler, Sibylle; Bartenstein, Peter; Fröhlich, Thomas; Klymiuk, Nikolai; Blutke, Andreas und Wolf, Eckhard
(19. November 2021):
A scalable, clinically severe pig model for Duchenne muscular dystrophy.
In: Disease Models & Mechanisms, Bd. 14, Nr. 12
[PDF, 3MB]
ORCID: https://orcid.org/0000-0002-4605-9791; Matiasek, Kaspar; Walter, Maggie C.; Kupatt, Christian; Ziegler, Sibylle; Bartenstein, Peter; Fröhlich, Thomas; Klymiuk, Nikolai; Blutke, Andreas und Wolf, Eckhard
(19. November 2021):
A scalable, clinically severe pig model for Duchenne muscular dystrophy.
In: Disease Models & Mechanisms, Bd. 14, Nr. 12
[PDF, 3MB]
Moore, Ursula; Gordish, Heather; Diaz-Manera, Jordi; James, Meredith K.; Mayhew, Anna G.; Guglieri, Michela; Fernandez-Torron, Roberto; Rufibach, Laura E.; Feng, Jia; Blamire, Andrew M.; Carlier, Pierre G.; Spuler, Simone; Day, John W.; Jones, Kristi J.; Bharucha-Goebell, Diana X.; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C.; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Pegoraro, Elena; Lowes, Linda Pax; Mendell, Jerry R.; Bushby, Kate und Straub, Volker
(2021):
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
In: Neuromuscular Disorders, Bd. 31, Nr. 4: S. 265-280
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]
Attarian, Shahram; Young, Peter; Brannagan, Thomas H.; Adams, David; Damme, Philip van; Thomas, Florian P.; Casanovas, Carlos; Tard, Celine; Walter, Maggie C.; Pereon, Yann; Walk, David; Stino, Amro; Visser, Marianne de; Verhamme, Camiel; Amato, Anthony; Carter, Gregory; Magy, Laurent; Statland, Jeffrey M. und Felice, Kevin
(2021):
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 433
Hiebeler, Miriam; Abicht, Angela; Reilich, Peter und Walter, Maggie C.
(2021):
Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA3.
In: Journal of Neuromuscular Diseases, Bd. 8, Nr. 4: S. 537-542
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
Kupatt, Christian; Windisch, Alina; Moretti, Alessandra; Wolf, Eckhard; Wurst, Wolfgang und Walter, Maggie C.
(2021):
Genome editing for Duchenne muscular dystrophy: a glimpse of the future?
In: Gene Therapy, Bd. 28, Nr. 9: S. 542-548
[PDF, 904kB]
Stirm, Michael; Fonteyne, Lina Marie; Shashikadze, Bachuki; Lindner, Magdalena; Chirivi, Maila; Lange, Andreas; Kaufhold, Clara; Mayer, Christian; Medugorac, Ivica; Kessler, Barbara; Kurome, Mayuko; Zakhartchenko, Valeri; Hinrichs, Arne; Kemter, Elisabeth; Krause, Sabine; Wanke, Rudiger; Arnold, Georg J.; Wess, Gerhard; Nagashima, Hiroshi; de Angelis, Martin Hrabe; Flenkenthaler, Florian; Kobelke, Levin Arne; Bearzi, Claudia; Rizzi, Roberto; Baehr, Andrea; Reese, Sven; Matiasek, Kaspar; Walter, Maggie C.; Kupatt, Christian; Ziegler, Sibylle; Bartenstein, Peter; Froehlich, Thomas; Klymiuk, Nikolai; Blutke, Andreas und Wolf, Eckhard
(2021):
A scalable, clinically severe pig model for Duchenne muscular dystrophy.
In: Disease Models & Mechanisms, Bd. 14, Nr. 12, dmm049285
Walter, Maggie C.; Chiriboga, Claudia; Duong, Tina; Goemans, Nathalie; Mayhew, Anna; Ouillade, Laetitia; Oskoui, Maryam; Quinlivan, Ros; Vazquez-Costa, Juan F.; Vissing, John und Servais, Laurent
(2021):
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era.
In: Journal of Neuromuscular Diseases, Bd. 8, Nr. 4: S. 543-551
2020
Moore, Ursula; Jacobs, Marni; Fernandez-Torron, Roberto; LLauger Rossello, Jaume; Smith, Fiona E.; James, Meredith; Mayhew, Anna; Rufibach, Laura; Carlier, Pierre G.; Blamire, Andrew M.; 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; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Straub, Volker und Diaz-Manera, Jordi
(16. Dezember 2020):
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy.
In: Frontiers in Neurology, Bd. 11, 613446: S. 1-9
[PDF, 1MB]
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
Barp, Andrea; Laforet, Pascal; Bello, Luca; Tasca, Giorgio; Vissing, John; Monforte, Mauro; Ricci, Enzo; Choumert, Ariane; Stojkovic, Tanya; Malfatti, Edoardo; Pegoraro, Elena; Semplicini, Claudio; Stramare, Roberto; Scheidegger, Olivier; Haberlova, Jana; Straub, Volker; Marini-Bettolo, Chiara; Lokken, Nicoline; Diaz-Manera, Jordi; Urtizberea, Jon A.; Mercuri, Eugenio; Kyncl, Martin; Walter, Maggie C. und Carlier, Robert Y.
(2020):
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
In: Journal of Neurology, Bd. 267, Nr. 1: S. 45-56
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
Storf, Holger; Stausberg, Jürgen; Kindle, Gerhard; Quadder, Bernd; Schlangen, Miriam; Walter, Maggie C.; ückert, Frank und Wagner, Thomas O. F.
(2020):
Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe „Register“ des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE).
In: Bundesgesundheitsblatt-Gesundheitsforschung-Gesundheitsschutz, Bd. 63, Nr. 6: S. 761-770
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
Walter, Maggie C.; Draeger, Bianca; Guenther, Rene; Hermann, Andreas; Hagenacker, Tim; Kleinschnitz, Christoph; Loescher, Wolfgang; Meyer, Thomas; Schrank, Berthold; Schwersenz, Inge; Wurster, Claudia D.; Ludolph, Albert C. und Kirschner, Janbernd
(2019):
Therapieevaluation bei Patienten mit 5q-assoziierter spinaler Muskelatrophie. Erfahrungen aus der klinischen Praxis.
In: Nervenarzt, Bd. 90, Nr. 4: S. 343-351
Pechmann, Astrid; König, Kirsten; Bernert, Guenther; Schachtrup, Kristina; Schara, Ulrike; Schorling, David; Schwersenz, Inge; Stein, Sabine; Tassoni, Adrian; Vogt, Sibylle; Walter, Maggie C.; Lochmüller, Hanns und Kirschner, Janbernd
(2019):
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.
In: Orphanet Journal of Rare Diseases, Bd. 14, 18
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
Ikenberg, Elena; Reilich, Peter; Abicht, Angela; Heller, Corina; Schoser, Benedikt und Walter, Maggie C.
(2019):
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
In: Neuromuscular Disorders, Bd. 29, Nr. 5: S. 392-397
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
Chardon, Jodi Warman; Diaz-Manera, Jordi; Tasca, Giorgio; Bonnemann, Carsten G.; Gomez-Andres, David; Heerschap, Arend; Mercuri, Eugenio; Muntoni, Francesco; Pichiecchio, Anna; Ricci, Enzo; Walter, Maggie C.; Hanna, Michael; Jungbluth, Heinz; Morrow, Jasper M.; Fernandez-Torron, Roberto; Udd, Bjarne; Vissing, John; Yousry, Tarek; Quijano-Roy, Susana; Straub, Volker und Carlier, Robert Y.
(2019):
MYO-MRI diagnostic protocols in genetic myopathies.
In: Neuromuscular Disorders, Bd. 29, Nr. 11: S. 827-841
Hagenacker, Tim; Hermann, Andreas; Kamm, Christoph; Walter, Maggie C.; Weiler, Markus; Guenther, Rene; Wurster, Claudia D. und Kleinschnitz, Christoph
(2019):
Spinale Muskelatrophie – Expertenempfehlungen zur Behandlung von erwachsenen Patienten mit Nusinersen.
In: Fortschritte der Neurologie Psychiatrie, Bd. 87, Nr. 12: S. 703-710
2018
Walter, Maggie C. und Schoser, Benedikt
(2018):
Neue Therapien der spinalen Muskelatrophie.
In: Aktuelle Neurologie, Bd. 45, Nr. 8: S. 617-624
Brusa, Roberta; Magri, Francesca; Papadimitriou, Dimitra; Govoni, Alessandra; Bo, Roberto del; Ciscato, Patrizia; Savarese, Marco; Cinnante, Claudia; Walter, Maggie C.; Abicht, Angela; Bulst, Stefanie; Corti, Stefania; Moggio, Maurizio; Bresolin, Nereo; Nigro, Vincenzo und Comi, Giacomo Pietro
(2018):
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.
In: Neuromuscular Disorders, Bd. 28, Nr. 6: S. 532-537
Tasca, Giorgio; Monforte, Mauro; Diaz-Manera, Jordi; Brisca, Giacomo; Semplicini, Claudio; D'Amico, Adele; Fattori, Fabiana; Pichiecchio, Anna; Berardinelli, Angela; Maggi, Lorenzo; Maccagnano, Elio; Lokken, Nicoline; Marini-Bettolo, Chiara; Munell, Francina; Sanchez, Angel; Alshaikh, Nahla; Voermans, Nicol C.; Dastgir, Jahannaz; Vlodavets, Dmitry; Haberlova, Jana; Magnano, Gianmichele; Walter, Maggie C.; Quijano-Roy, Susana; Carlier, Robert-Yves; Engelen, Baziel G. M. van; Vissing, John; Straub, Volker; Bonnemann, Carsten G.; Mercuri, Eugenio; Muntoni, Francesco; Pegoraro, Elena; Bertini, Enrico; Udd, Bjarne; Ricci, Enzo und Bruno, Claudio
(2018):
MRI in sarcoglycanopathies: a large international cohort study.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 89, Nr. 1: S. 72-77
[PDF, 3MB]
Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K.; Mayhew, Anna; Smith, Fiona E.; Moore, Ursula R.; Blamire, Andrew M.; Carlier, Pierre G.; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramare, Roberto; Rampado, Alessandro; Sato, Noriko; Tamaru, Takeshi; Harwick, Bruce; Gala, Susana Rico; Turk, Suna; Coppenrath, Eva M.; Foster, Glenn; Bendahan, David; Le Fur, Yann; Fricke, Stanley T.; Otero, Hansel; Foster, Sheryl L.; Peduto, Anthony; Sawyer, Anne Marie; Hilsden, Heather; Lochmüller, Hanns; Grieben, Ulrike; Spuler, Simone; Rocha, Carolina Tesi; Day, John W.; Jones, Kristi J.; Bharucha-Göbel, 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; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate und Straub, Volker
(2018):
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 89, Nr. 10: S. 1071-1081
[PDF, 4MB]
Walter, Maggie C. und Reilich, Peter
(2018):
Molekulare Therapien von Muskeldystrophien.
In: Fortschritte der Neurologie Psychiatrie, Bd. 86, Nr. 9: S. 535-542
Walter, Maggie C. und Stauber, Anne Julia
(2018):
Spinale Muskelatrophien: Klinik und Therapie.
In: Fortschritte der Neurologie Psychiatrie, Bd. 86, Nr. 9: S. 543-550
2017
Ikenberg, Elena; Karin, Ivan; Ertl-Wagner, Birgit; Abicht, Angela; Bulst, Stefanie; Sabine, Krause; Schoser, Benedikt; Reilich, Peter und Walter, Maggie C.
(2017):
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.
In: Neuromuscular Disorders, Bd. 27, Nr. 9: S. 856-860
Walter, Maggie C. und Reilich, Peter
(2017):
Recent developments in Duchenne muscular dystrophy: facts and numbers.
In: Journal of Cachexia Sarcopenia and Muscle, Bd. 8, Nr. 5: S. 681-685
Fledrich, Robert; Mannil, Manoj; Leha, Andreas; Ehbrecht, Caroline; Solari, Alessandra; Pelayo-Negro, Ana L.; Berciano, Jose; Schlotter-Weigel, Beate; Schnizer, Tuuli J.; Prukop, Thomas; Garcia-Angarita, Natalia; Czesnik, Dirk; Haberlova, Jana; Mazanec, Radim; Paulus, Walter; Beissbarth, Tim; Walter, Maggie C.; Hogrel, Jean-Yves; Dubourg, Odile; Schenone, Angelo; Baets, Jonathan; Jonghe, Peter de; Shy, Michael E.; Horvath, Rita; Pareyson, Davide; Seeman, Pavel; Young, Peter und Sereda, Michael W.
(2017):
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 88, Nr. 11: S. 941-952
[PDF, 2MB]
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]
Vill, K.; Blaschek, A.; Schara, U.; Kölbel, H.; Hohenfellner, K.; Harms, E.; Olgemöller, B.; Walter, Maggie C. und Müller-Felber, W.
(2017):
Spinale Muskelatrophie: Zeit für das Neugeborenenscreening?
In: Nervenarzt, Bd. 88, Nr. 12: S. 1358-1366
2016
Jasnic-Savovic, Jovana; Krause, Sabine; Savic, Slobodan; Kojic, Ana; Kovcic, Vlado; Boskovic, Srdjan; Nestorovic, Aleksandra; Rakicevic, Ljiljana; Schreiber-Katz, Olivia; Vogel, Johannes G.; Schoser, Benedikt G.; Walter, Maggie C.; Valle, Giorgio; Radojkovic, Dragica; Faulkner, Georgine und Kojic, Snezana
(2016):
Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac muscles.
In: Histochemistry and Cell Biology, Bd. 146, Nr. 5: S. 569-584
Suriyanarayanan, Saranya; Auranen, Mari; Toppila, Jussi; Paetau, Anders; Shcherbii, Maria; Palin, Eino; Wei, Yu; Lohioja, Tarja; Schlotter-Weigel, Beate; Schön, Ulrike; Abicht, Angela; Rautenstrauss, Bernd; Tyynismaa, Henna; Walter, Maggie C.; Hornemann, Thorsten und Ylikallio, Emil
(2016):
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
In: Neuromolecular Medicine, Bd. 18, Nr. 1: S. 81-90
Lukacs, Zoltan; Cobos, Paulina Nieves; Wenninger, Stephan; Willis, Tracey A.; Guglieri, Michela; Roberts, Marc; Quinlivan, Rosaline; Hilton-Jones, David; Evangelista, Teresinha; Zierz, Stephan; Schlotter-Weigel, Beate; Walter, Maggie C.; Reilich, Peter; Klopstock, Thomas; Deschauer, Marcus; Straub, Volker; Müller-Felber, Wolfgang und Schoser, Benedikt
(2016):
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
In: Neurology, Bd. 87, Nr. 3: S. 295-298
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]
Fröhlich, Thomas; Kemter, Elisabeth; Flenkenthaler, Florian; Klymiuk, Nikolai; Otte, Kathrin A.; Blutke, Andreas; Krause, Sabine; Walter, Maggie C.; Wanke, Rüdiger; Wolf, Eckhard und Arnold, Georg J.
(2016):
Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy.
In: Scientific Reports, Bd. 6, 33362
[PDF, 2MB]
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
Schreiber, Olivia; Schneiderat, Peter; Kress, Wolfram; Rautenstrauss, Bernd; Senderek, Jan; Schoser, Benedikt und Walter, Maggie C.
(2013):
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A-evidence for "double trouble" overlapping syndromes.
In: BMC Medical Genetics
14:92
[PDF, 1MB]
Harafuji, Naoe; Schneiderat, Peter; Walter, Maggie C. und Chen, Yi-Wen
(2013):
miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.
In: Orphanet Journal of Rare Diseases
8:55
[PDF, 497kB]
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]
Pertl, Cordula; Eblenkamp, Markus; Pertl, Anja; Pfeifer, Stefan; Wintermantel, Erich; Lochmüller, Hanns; Walter, Maggie C.; Krause, Sabine und Thirion, Christian
(2013):
A new web-based method for automated analysis of muscle histology.
In: BMC Musculoskeletal Disorders
14:26
[PDF, 1MB]
2009
McNeill, Alisdair; Birchall, Daniel; Straub, Volker; Goldfarb, Lev; Reilich, Peter; Walter, Maggie C.; Schramm, Nicolai; Lochmueller, Hanns und Chinnery, Patrick F.
(2009):
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation.
In: European Neurology, Nr. 3: S. 161-166
[PDF, 198kB]