Results 171 to 180 of about 1,730 (187)

Dysferlinopathy: From Gene to Protein

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

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

Molecular Therapy, 2017
Bryan Sutton, Catherine Dial
exaly  

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

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

COMPOSITION FOR TREATING DYSFERLINOPATHY

2022
BARTOLI MARC, COURRIER SÉBASTIEN, BALLOUHEY OCÉANE   +2 more
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

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

Muscle and Nerve, 2016
He Lv, Zhaoxia Wang, Yun Yuan
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

Respiratory and cardiac function in japanese patients with dysferlinopathy

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

Rapid Screening for Japanese Dysferlinopathy by Fluorescent Primer Extension

Internal Medicine, 2010
Tatsufumi Murakami, Naoki Suzuki, Rumiko Izumi   +2 more
exaly  

A unique case of dysferlinopathy with a large-segment duplication mutation who experienced rapid deterioration after small-dosage corticosteroid treatment

Journal of the Neurological Sciences, 2017
Li Di, Yuwei Da, Xin-Ming Shen
exaly