Results 61 to 70 of about 17,131 (226)

A Myocyte‐Enriched Long Non‐Coding RNA NRMLncR Enhances Myogenesis in Mouse

The FASEB Journal, Volume 40, Issue 13, 15 July 2026.
We identified a novel myocyte‐enriched, Notch‐repressed myogenic lncRNA, NRMLncR, that is induced by myogenic regulatory factors (MRFs) during myogenic progression in mouse. NRMLncR localizes to cytoplasmic and nuclear compartments, associates with the RNA‐binding protein CUGBP Elav‐like family member 1 (CELF1), and is linked to neighboring gene Tbx1 ...
Yufen Li, Yumei Zhou, Qing Ying Li, Justine Arrington, Zhengzheng Hu, Mostafa F. Abdelhai, Yubo Wang, Junxiao Ren, Yung‐Yu Cheng, Mingyi Xie, W. Andy Tao, Shihuan Kuang, Feng Yue   +12 more
wiley   +1 more source

Myotonic dystrophy: diagnosis, management and new therapies.

, 2014
PURPOSE OF REVIEW: Myotonic dystrophies type 1 and type 2 are progressive multisystem genetic disorders with clinical and genetic features in common. Myotonic dystrophy type 1 is the most prevalent muscular dystrophy in adults and has a wide phenotypic ...
Hilton-Jones, David, Turner, C
core   +1 more source

IDMC-6 - The Sixth International Myotonic Dystrophy Consortium Meeting

European Journal of Histochemistry, 2009
In 1992 three groups of investigators found that myotonic dystrophy of Steinert, classical myotonic dystrophy, now known as myotonic dystrophy type 1 (DM1), results from an unstable CTG repeat expansion in the non-coding 3’ region of serinethreonine ...
G Meola
doaj   +1 more source

The Chemical Regulatory Landscape of Biomolecular Condensates

Aggregate, Volume 7, Issue 7, July 2026.
Chemical regulation of biomolecular phase separation offers a unique opportunity to bridge molecular‐level chemistry with emergent cellular organization. Chemically informed strategies for controlling condensate condensates through chemically tractable parameters such as interaction valency, solvent quality, and molecular crowding provides a unifying ...
Di Liu, Xin Zhang
wiley   +1 more source

Pattern Dystrophy of the Macula in a Case of Steinert Disease

Case Reports in Ophthalmology, 2013
Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.
Filipe Esteves, Rosa Dolz-Marco, Pablo Hernández-Martínez, Manuel Díaz-Llopis, Roberto Gallego-Pinazo   +4 more
doaj   +1 more source

Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1

BMC Neurology, 2022
Background Although functional impairment in patients with myotonic dystrophy is an important determinant of the quality of life (QoL), patients’ subjective evaluation of their symptoms may also affect their QoL.
Haruo Fujino, Toshio Saito, Masanori P. Takahashi, Hiroto Takada, Takahiro Nakayama, Osamu Imura, Tsuyoshi Matsumura   +6 more
doaj   +1 more source

Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Incorporating patient preferences into drug development is crucial, particularly, for rare diseases with significant unmet needs. This study used Best‐Worst Scaling type 2 (BWS‐2) to explore benefit–risk trade‐offs for patients and caregivers in two rare neuromuscular diseases (NMDs), myotonic dystrophy type 1 (DM1), and mitochondrial myopathy
Aura Cecilia Jimenez‐Moreno, Alasdair Blain, Cathy Anne Pinto, Vikas Soekhai, Jennifer Viberg Johansson, Christine Dyer, Kate Adcock, Esther W. de Bekker‐Grob, G. Ardine de Wit, Jane Newman, Gráinne S. Gorman   +10 more
wiley   +1 more source

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

Frontiers in Cellular Neuroscience, 2017
Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both
Genevieve Gourdon, Genevieve Gourdon, Giovanni Meola   +2 more
doaj   +1 more source

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva‐Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar, Radka Kaneva   +10 more
wiley   +1 more source

Myotonic Dystrophy: From Molecular Pathogenesis to Therapeutics

, 2022
Current studies concerning myotonic dystrophy type 1 (DM1) are in the process of transitioning from molecular investigations to preclinical and clinical trials [...
Lubov Timchenko, Timchenko, Lubov
core   +1 more source