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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Springe zu: 2022 | 2020 | 2019 | 2018 | 2017
Anzahl der Publikationen: 5

2022

Dowling, James J.; Mueller-Felber, Wolfgang; Smith, Barbara K.; Bonnemann, Carsten G.; Kuntz, Nancy L.; Muntoni, Francesco; Servais, Laurent; Alfano, Lindsay N.; Beggs, Alan H.; Bilder, Deborah A.; Blaschek, Astrid; Duong, Tina; Graham, Robert J.; Jain, Minal; Lawlor, Michael W.; Lee, Jun; Coats, Julie; Lilien, Charlotte; Lowes, Linda P.; MacBean, Victoria; Neuhaus, Sarah; Noursalehi, Mojtaba; Pitts, Teresa; Finlay, Caroline; Christensen, Sarah; Rafferty, Gerrard; Seferian, Andreea M.; Tsuchiya, Etsuko; James, Emma S.; Miller, Weston; Sepulveda, Bryan; Vila, Maria Candida; Prasad, Suyash; Rico, Salvador und Shieh, Perry B. (2022): INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. In: Journal of Neuromuscular Diseases, Bd. 9, Nr. 4: S. 503-516

2020

Meinke, Peter; Kerr, Alastair R. W.; Czapiewski, Rafal; de Las Heras, Jose; Dixon, Charles R.; Harris, Elizabeth; Koelbel, Heike; Muntoni, Francesco; Schara, Ulrike; Straub, Volker; Schoser, Benedikt; Wehnert, Manfred und Schirmer, Eric C. (2020): A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. In: Ebiomedicine, Bd. 51, 102587

2019

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

2018

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]

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]

Diese Liste wurde am Sat Dec 21 23:36:25 2024 CET erstellt.