Results 171 to 180 of about 1,438 (185)

Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy

Neuromuscular Disorders, 2017
R. Fernandez Torron, E. Harris, J. Bourke, K. Bettinson, H. Hilsden, S. Spuler, J. Day, K. Jones, D. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, M. Mori-Yoshimura, E. Bravver, J. Diaz-Manera, E. Pegoraro, J. Mendell, K. Bushby, V. Straub   +20 more
openaire   +1 more source

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

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

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

Dysferlinopathy: From Gene to Protein

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

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

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

Neuromuscular Disorders, 2015
Ha Young Shin, Hoon Jang, Joo Hyung Han
exaly  

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

Muscle and Nerve, 2016
Zhaoxia Wang, He Lv, Lingchao Meng
exaly  

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

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

Rapid Screening for Japanese Dysferlinopathy by Fluorescent Primer Extension

Internal Medicine, 2010
Yutaka Ohsawa, Naoki Suzuki, Tatsufumi Murakami   +2 more
exaly