Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases

por Richardson, Mark, Mayhew, Anna, Muni-Lofra, Robert, Murphy, Lindsay B., Straub, Volker
Publicado 2021

Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy?

por Wood, Claire L, Hollingsworth, Kieren G, Bokaie, Edrina, Hughes, Eric, Muni-Lofra, Robert, Mayhew, Anna, Mitchell, Rod T, Guglieri, Michela, McElvaney, Joseph, Cheetham, Timothy D, Straub, Volker
Publicado 2023

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities

por Rodriguez-Torres, Rafael S., Uher, David, Gay, Emma L., Coratti, Giorgia, Dunaway Young, Sally, Rohwer, Annemarie, Muni Lofra, Robert, De Vivo, Darryl C., Hirano, Michio, Glynn, Nancy W., Montes, Jacqueline
Publicado 2023

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy

por Moreira, Sandra, Wood, Libby, Smith, Debbie, Marini-Bettolo, Chiara, Guglieri, Michela, McMacken, Grace, Bailey, Geraldine, Mayhew, Anna, Muni-Lofra, Robert, Eglon, Gail, Williams, Maggie, Straub, Volker, Lochmüller, Hanns, Evangelista, Teresinha
Publicado 2017

Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK

por Muni-Lofra, Robert, Murphy, Lindsay B., Adcock, Kate, Farrugia, Maria E., Irwin, Joseph, Lilleker, James B., McConville, John, Merrison, Andria, Parton, Matt, Ryburn, Liz, Scoto, Mariacristina, Marini-Bettolo, Chiara, Mayhew, Anna
Publicado 2022

Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies

por James, Meredith K, Alfano, Lindsay N, Muni-Lofra, Robert, Reash, Natalie F, Sodhi, Jassi, Iammarino, Megan A, Moat, Dionne, Shannon, Kianna, McCallum, Michelle, Richardson, Mark, Eagle, Michelle, Straub, Volker, Marini-Bettolo, Chiara, Lowes, Linda P, Mayhew, Anna G
Publicado 2022

Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories

por Muni-Lofra, Robert, Juanola-Mayos, Eduard, Schiava, Marianela, Moat, Dionne, Elseed, Maha, Michel-Sodhi, Jassi, Harris, Elizabeth, McCallum, Michelle, Moore, Ursula, Richardson, Mark, Trainor, Christina, Wong, Karen, Malinova, Monika, Bolano-Diaz, Carla, Keogh, Michael John, Ghimenton, Elisabetta, Verdu-Diaz, Jose, Mayhew, Anna, Guglieri, Michela, Straub, Volker, James, Meredith K., Marini-Bettolo, Chiara, Diaz-Manera, Jordi
Publicado 2023

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

por Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D’Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M., Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W., Darras, Basil T., De Vivo, Darryl C., Finkel, Richard S., Mercuri, Eugenio, Muntoni, Francesco
Publicado 2023

Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study

por Trucco, Federica, Ridout, Deborah, Scoto, Mariacristina, Coratti, Giorgia, Main, Marion L., Muni Lofra, Robert, Mayhew, Anna G., Montes, Jacqueline, Pane, Marika, Sansone, Valeria, Albamonte, Emilio, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Parasuraman, Deepak, Childs, Anne-Marie, Gowda, Vasantha, Willis, Tracey, Ong, Min, Marini-Bettolo, Chiara, De Vivo, Darryl C., Darras, Basil T., Day, John, Kichula, Elizabeth A., Mayer, Oscar H., Navas Nazario, Aledie A., Finkel, Richard S., Mercuri, Eugenio, Muntoni, Francesco
Publicado 2021

Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach

por 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-Hernández, Irene, Holsten, Scott, Sakamoto, Chikako, Canal, Aurélie, Sánchez-Aguilera Práxedes, 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, Díaz-Manera, Jordi, Pegoraro, Elena, Mendell, Jerry R., Straub, Volker
Publicado 2022