Results 171 to 180 of about 1,440 (186)

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

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

Neuropathology and Applied Neurobiology, 2022
exaly  

Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice

Molecular Therapy, 2017
R Bryan Sutton, Catherine Dial, Matthew L Hirsch   +2 more
exaly  

Dysferlinopathy: From Gene to Protein

Journal of Clinical Neuromuscular Disease, 2008
openaire   +2 more sources

Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy

Neuromuscular Disorders, 2018
M. Tiet, R. Fernandez-Torrón, J. Bourke, K. Bettinson, E. Harris, H. Hilsden, S. Spuler, J.W. Day, K.J. Jones, D.X. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M.C. Walter, C. Paradas, T. Stojkovic, M. Mori-Yoshimura, E. Bravver, J. Diaz Manera, E. Pegoraro, J.R. Mendell, K. Bushby, V. Straub   +21 more
openaire   +1 more source

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

Neuromuscular Disorders, 2015
Young-Chul Choi, Min Goo Lee, Duhee Bang   +2 more
exaly  

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

Muscle and Nerve, 2016
Zhaoxia Wang, Yun Yuan
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

Respiratory and cardiac function in japanese patients with dysferlinopathy

Muscle and Nerve, 2016
Nicolas Levy, Jun Mitsui, Ichizo Nishino   +2 more
exaly  

The importance of dosage analysis in dysferlinopathy

Neuromuscular Disorders, 2015
J. Hudson, E. Graham, R. Charlton, M. Guglieri, K. Bushby, V. Straub, R. Barresi   +6 more
openaire   +1 more source