Results 171 to 180 of about 3,769 (195)

Morpholino-Mediated Exons 28-29 Skipping of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay.

Methods in molecular biology, 2023
S. Anwar, T. Yokota
semanticscholar   +1 more source

In Vivo DYSF Gene Viral Delivery Provides a Histoprotective Effect in Skeletal Muscle Tissue in Dysferlin-Deficient Mice

Bulletin of experimental biology and medicine, 2023
I. A. Yakovlev, O. N. Chernova, M. Mavlikeev, I. Limaev, K. Blagodatskikh, A. Titova, A. Aimaletdinov, A. Shaimardanova, A. Rizvanov, S. Bardakov, A. Isaev, R. V. Deev   +11 more
semanticscholar   +1 more source

[A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers].

Rinsho shinkeigaku = Clinical neurology, 2005
We report a 40-year-old man who noticed difficulty in standing on his tiptoe from approximately 36 years-old. He presented with selective calf muscle weakness on flexion. The serum creatine kinase (CK) level slightly increased to 569IU/l. Muscle computed tomography (CT) revealed selective gastrocnemius and soleus muscle atrophy with fat tissue ...
Isao, Hozumi, Toshiaki, Takahashi, Masashi, Aoki, Yukiko K, Hayashi, Naoteru, Suzuki, Zenjiro, Matsuyama, Takashi, Inuzuka, Ikuya, Nonaka   +7 more
openaire   +1 more source

Dysferlin Regulates Cardiac T-tubule Structure and Excitation-contraction Coupling in Isolated Cardiac Myocytes at Rest and in Response to Acute Hypo-osmotic Stress and is Protective Against Arrhythmias in Langendorff-perfused Hearts

bioRxiv
C. Quinn, C. Booth, K. Smith, E. Hayter, E. Cartwright, A. W. Trafford, K. Dibb   +6 more
semanticscholar   +1 more source

Restoration of Dysferlin After Exon 32 Skipping in Patient Cells.

Methods in molecular biology
F. Barthélémy, S. Courrier, M. Bartoli
semanticscholar   +1 more source

P1.18 Dysferlin peptides elicit functional recovery in dysferlin deficient muscular dystrophy

Neuromuscular Disorders, 2010
V. Schoewel, A. Marg, R. Siegert, A. Schulze, U. Zacharias, I. Morano, S. Spuler   +6 more
openaire   +1 more source

Features of dysferlin mutations in Japan

Journal of the Neurological Sciences, 2017
T. Takahashi, N. Suzuki, R. Izumi, C. Yaginuma, N. Shimakura, H. Ono, Y. Shimosegawa, Y. Sugimura, S. Taniguchi, H. Oizumi, H. Tanaka, M. Yoshioka, A. Takeda, Y. Aoki, M. Aoki   +14 more
openaire   +1 more source

ADAM and Dysferlin in pathology placenta

Journal of Reproductive Immunology, 2011
M. Weber, U.R. Markert, J.S. Fitzgerald
openaire   +1 more source

Dysferlin associates with the developing T‐tubule system in rodent and human skeletal muscle

Muscle and Nerve, 2010
Rita Barresi, Hanns Lochmüller
exaly  

Dysferlin

2008
openaire   +1 more source