1. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Issue 10101 (23rd September 2017) Authors: McDonald, Craig M; Campbell, Craig; Torricelli, Ricardo Erazo; Finkel, Richard S; Flanigan, Kevin M; Goemans, Nathalie; Heydemann, Peter; Kaminska, Anna; Kirschner, Janbernd; Muntoni, Francesco; Osorio, Andrés Nascimento; Schara, Ulrike; Sejersen, Thomas; Shieh, Perry B; Sweeney, H Lee; Topaloglu... Journal: Lancet Issue: Volume 390:Issue 10101(2017) Page Start: 1489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Issue 4 (October 2014) Authors: Bushby, Katharine; Finkel, Richard; Wong, Brenda; Barohn, Richard; Campbell, Craig; Comi, Giacomo P.; Connolly, Anne M.; Day, John W.; Flanigan, Kevin M.; Goemans, Nathalie; Jones, Kristi J.; Mercuri, Eugenio; Quinlivan, Ros; Renfroe, James B.; Russman, Barry; Ryan, Monique M.; Tulinius, Mar; Voi... Journal: Muscle & nerve Issue: Volume 50:Issue 4(2014:Oct.) Page Start: 477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy. Issue 1 (December 2015) Authors: Pinto-Mariz, Fernanda; Rodrigues Carvalho, Luciana; Prufer De Queiroz Campos Araujo, Alexandra; De Mello, Wallace; Gonçalves Ribeiro, Márcia; Cunha, Maria; Cabello, Pedro; Riederer, Ingo; Negroni, Elisa; Desguerre, Isabelle; Veras, Mariana; Yada, Erica; Allenbach, Yves; Benveniste, Olivier; Voit,... Journal: Skeletal muscle Issue: Volume 5:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy. Issue 3 (26th May 2021) Authors: Amor, Fatima; Vu Hong, Ai; Corre, Guillaume; Sanson, Mathilde; Suel, Laurence; Blaie, Stephanie; Servais, Laurent; Voit, Thomas; Richard, Isabelle; Israeli, David Journal: Journal of cachexia, sarcopenia and muscle Issue: Volume 12:Issue 3(2021) Page Start: 677 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients. (22nd March 2018) Authors: Catapano, Francesco; Domingos, Joana; Perry, Mark; Ricotti, Valeria; Phillips, Lauren; Servais, Laurent; Seferian, Andreea; Groot, Imelda de; Krom, Yvonne D; Niks, Erik H; Verschuuren, Jan JGM; Straub, Volker; Voit, Thomas; Morgan, Jennifer; Muntoni, Francesco Journal: Epigenomics Issue: Volume 10:Number 7(2018) Page Start: 875 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches. Issue 1 (December 2017) Authors: Mariot, Virginie; Joubert, Romain; Hourdé, Christophe; Féasson, Léonard; Hanna, Michael; Muntoni, Francesco; Maisonobe, Thierry; Servais, Laurent; Bogni, Caroline; Panse, Rozen; Benvensite, Olivier; Stojkovic, Tanya; Machado, Pedro; Voit, Thomas; Buj-Bello, Ana; Dumonceaux, Julie Journal: Nature communications Issue: Volume 8:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. Issue 9979 (2nd May 2015) Authors: Buyse, Gunnar M; Voit, Thomas; Schara, Ulrike; Straathof, Chiara S M; D'Angelo, M Grazia; Bernert, Günther; Cuisset, Jean-Marie; Finkel, Richard S; Goemans, Nathalie; McDonald, Craig M; Rummey, Christian; Meier, Thomas Journal: Lancet Issue: Volume 385:Issue 9979(2015) Page Start: 1748 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Issue 2 (18th June 2020) Authors: Foley, A. Reghan; Zou, Yaqun; Dunford, James E.; Rooney, Jachinta; Chandra, Goutam; Xiong, Hui; Straub, Volker; Voit, Thomas; Romero, Norma; Donkervoort, Sandra; Hu, Ying; Markello, Thomas; Horn, Adam; Qebibo, Leila; Dastgir, Jahannaz; Meilleur, Katherine G.; Finkel, Richard S.; Fan, Yanbin; Mamc... Journal: Annals of neurology Issue: Volume 88:Issue 2(2020) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Issue 3 (11th April 2021) Authors: Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, ... Journal: Brain communications Issue: Volume 3:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy. (15th March 2016) Authors: Hogrel, Jean-Yves; Wary, Claire; Moraux, Amélie; Azzabou, Noura; Decostre, Valérie; Ollivier, Gwenn; Canal, Aurélie; Lilien, Charlotte; Ledoux, Isabelle; Annoussamy, Mélanie; Reguiba, Nacera; Gidaro, Teresa; Le Moing, Anne Gaelle; Cardas, Ruxandra; Voit, Thomas; Carlier, Pierre G.; Servais, Laurent Journal: Neurology Issue: Volume 86:Number 11(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗