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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 7
2022
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
2021
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
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]
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
2018
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]
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]