Results 161 to 170 of about 55,853 (286)

State-of-the-Art Research and New Pharmacological Perspectives on Renal Involvement in Duchenne Muscular Dystrophy: A Narrative Review. [PDF]

Biomedicines
Bellis M, Imbrici P, Lenti R, Liantonio A, De Luca A.   +4 more
europepmc   +1 more source

Myofibre Density Reveals a Critical Threshold Around Age 6 in Steroid‐Naïve Duchenne Muscular Dystrophy: A Retrospective Observational Study

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
We analysed archival muscle biopsies of steroid‐naïve patients with Duchenne muscular dystrophy (DMD), proposing a novel, simple metric: myofibre density (MFD). MFD sharply declines until age 6, identifying a critical threshold around this age. MFD provides a sensitive, reproducible biomarker for early disease progression, highlighting a potential ...
Tetsuhiro Yamakado, Yuka Ishikawa, Koki Ise, Lei Wang, Yoshitaka Oda, Masumi Tsuda, Taichi Kimura, Masayoshi Nagao, Manabu Ito, Shinya Tanaka, Zen‐ichi Tanei   +10 more
wiley   +1 more source

Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant. [PDF]

JACC Case Rep
Albrecht K, Averbuch T, Huculak C, Marcadier J, Oudit G, van Landeghem FKH, Adam B, Lyons KJ, Kiamanesh O.   +8 more
europepmc   +1 more source

Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
DM1 myoblasts show mild defects, but RNA toxicity intensifies upon differentiation, where broad gene‐expression changes and escalating MBNL1‐driven splicing defects disrupt muscle‐specific pathways, underscoring a key vulnerability at the transition from myogenic precursor cells to myofibres in patients. ABSTRACT Aims Myotonic dystrophy type 1 (DM1) is
Lise Ripken, Walther J. A. A. van den Broek, Remco T. P. van Cruchten, Jos G. A. Smits, Tabea V. Riepe, Peter A. C. 't Hoen, Derick G. Wansink   +6 more
wiley   +1 more source

Recurrent Pneumonia in a Patient With Oculopharyngeal Muscular Dystrophy (OPMD) due to GCN Expansion in the <i>PABPN1</i> Gene: A Diagnostic Challenge. [PDF]

Open Respir Arch
Mañana Valdés C, Arias Guillén M, Moris de la Tassa G.   +2 more
europepmc   +1 more source

A Novel Dysferlin‐Binding Kinase CK2α Promotes Plasma Membrane Repair in Dysferlinopathy

The FASEB Journal, Volume 40, Issue 6, 31 March 2026.
When the cell membrane is injured, extracellular calcium enters the cell, triggering the accumulation of dysferlin at the lesion site. In the presence of dysferlin, CK2 is efficiently recruited to the damaged membrane and maintains its kinase activity through interaction with dysferlin.
Naoko Nakamura, Naoki Suzuki, Shin‐ichiro Kanno, Rei Yamanaka, Hiroya Ono, Rumiko Izumi, Rui Muliang, Christian Borgo, Akiyuki Ohno, Ryuhei Harada, Saki Saito, Yukino Funayama, Kensuke Ikeda, Shio Mitsuzawa, Yasuaki Watanabe, Tomomi Shijo, Tetsuya Akiyama, Toshiaki Takahashi, Makoto Kanzaki, Shion Osana, Hitoshi Warita, Yoshitsugu Aoki, Satoru Ebihara, Mauro Salvi, Ryoichi Nagatomi, Akira Yasui, Katsuya Miyake, Masashi Aoki   +27 more
wiley   +1 more source

Beta-nicotinamide mononucleotide attenuates creatine kinase release in Duchenne muscular dystrophy model rats. [PDF]

J Vet Med Sci
Nakamura K, Kanou M, Ito S, Jimbo T, Kouzaki K, Nakazato K, Nakamjima R, Yamanouchi K, Ueda H, Yamana K.   +9 more
europepmc   +1 more source

Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. [PDF]

, 2017
Ackroyd, Ackroyd, Assadi, Barone, Beltran-Valero de Bernabe, Bielle, Booler, Borrell, Bouchet, Brockington, Buysse, Carss, Copp, Devisme, Dobyns, Ervasti, Gee, Halfter, Hartfuss, Hirotsune, Hong, Hu, Hu, Kranz, Lefeber, Lefeber, Longman, Manzini, Meyer, Montagnani, Moore, Moore, Myshrall, Radner, Reiner, Rice, Roscioli, Satz, Shaheen, Siegenthaler, Stevens, Sugita, Takiguchi-Hayashi, Toda, van Reeuwijk, Vuillaumier-Barrot, Willer, Yang, Yeo, Yoshida, Yoshida-Moriguchi, Yurchenco   +51 more
core   +2 more sources

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley   +1 more source

Inhibition of TRPC3-Nox2 Complex Formation Ameliorates Skeletal Muscle Atrophy. [PDF]

Antioxidants (Basel)
Kato Y, Wu D, Ito T, Atef Y, Ayukawa K, Mi X, Nishiyama K, Nishimura A, Nishida M.   +8 more
europepmc   +1 more source