Results 191 to 200 of about 1,979 (203)

Toward an objective measure of functional disability in dysferlinopathy

Muscle and Nerve, 2016
David Gómez-Andrés, Claudia Castiglioni, Patricio Gonzalez-Hormazabal   +2 more
exaly  

North Star Assessment for dysferlinopathy: Longitudinal performance in the clinical outcome study of dysferlinopathy

Neuromuscular Disorders, 2017
M. James, A. Mayhew, M. Eagle, R. Muni Lofra, E. Maron, R. Gee, M. Harman, T. Duong, B. Vandevelde, C. Siener, S. Thiele, J. Mendez, A. Canal, C. Sakamoto, S. Holsten, I. Pedrosa-Hernández, C. Semplicini, L. Lowes, K. Bushby, V. Straub   +19 more
openaire   +1 more source

Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy

Muscle and Nerve, 2016
Zhaoxia Wang, He Lv, Jiangxi Xiao
exaly  

Respiratory and cardiac function in japanese patients with dysferlinopathy

Muscle and Nerve, 2016
Madoka Mori-Yoshimura, Yukiko K Hayashi, Nicolas Levy   +2 more
exaly  

A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

Science Translational Medicine, 2010
Nicolas Wein, Marc Bartoli, William Lostal   +2 more
exaly  

Dysferlinopathie. Exemple d’une nouvelle myopathie

Bulletin de l'Académie Nationale de Médecine, 2002
Georges Serratrice, Jean-François Pellissier, Varin N’guyen, Sharham Attarian, Jean Pouget   +4 more
openaire   +1 more source

Progress and challenges in diagnosis of dysferlinopathy

Muscle and Nerve, 2016
Corrado Angelini
exaly  

Clinical Outcome Study in Dysferlinopathy: Medical comorbidities and polytherapy in a large population of dysferlinopathy patients

Nervenheilkunde, 2019
K Storch, S Spuler, JW Day, KJ Jones, DX Bharucha-Goebel, E Salort Campana, MC Walter, S Krause, A Pestronk, C Paradas, T Stojkovic, M Mori-Yoshimura, E Bravver, JD Manera, E Pegoraro, JR Mendell, K Bushby, V Straub   +17 more
openaire   +1 more source

G.P.10.09 Mitochondrial dysfunction in dysferlinopathy

Neuromuscular Disorders, 2008
J.L. Murphy, R. Charlton, R. Barresi, K.M. Bushby, R.W. Taylor, D.M. Turnbull   +5 more
openaire   +1 more source

Exon skipping for dysferlinopathies

2012
Aartsma-Rus, A., Verwey, N., Schneiderat, P., Maarel, S.M. van der, Ommen, G.J.B. van, Houweling-Gazzoli, I.   +5 more
openaire   +1 more source