Results 141 to 150 of about 39,875 (271)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, Volume 67, Issue 6, Page 3185-3198, June 2026.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents

, 2011
Steve D Wilton, Sue FletcherCentre for Neuromuscular and Neurological Disorders, University of Western Australia, Crawley, Perth, WA, AustraliaAbstract: The identification of dystrophin and the causative role of mutations in this gene in Duchenne and ...
Steve D Wilton, Sue Fletcher
core  

Current Topics of Progressive Cardiac Conduction Disease

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo, Hitoshi Mori, Takashi Kumamoto, Taisuke Ishikawa, Akiko Seki, Naomasa Makita, Jean‐Jacques Schott, Arthur A. M. Wilde   +7 more
wiley   +1 more source

Elbow Flexors Muscle Fat Fraction Is a Sensitive and Relevant Outcome Measure in Nonambulant Patients With DMD

NMR in Biomedicine, Volume 39, Issue 6, June 2026.
Quantitative MRI of upper limb muscles in DMD patients showed increasing sensitivity to change over time with larger analysis volumes and longer follow‐up. Muscle fat fraction had the highest sensitivity to change and was associated with declining upper limb function, supporting its value as a robust imaging biomarker in DMD. ABSTRACT Duchenne muscular
M. Michaëls, K. J. Naarding, M. van der Holst, N. Geijsen, E. H. Niks, H. E. Kan   +5 more
wiley   +1 more source

Cardioprotection in Duchenne muscular dystrophy

European Heart Journal, 2021
Anjali Tiku Owens, Mariell Jessup
openaire   +2 more sources

Dystrophinopathy with a DMD exon 49–50 deletion in a female patient who developed schizophrenia: An autopsy case

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 2, June 2026.
Abstract Background Mutations in DMD affect not only muscles but also the brain. Cases of schizophrenia with DMD mutations have been described previously. Although female dystrophinopathy often has a milder phenotype, some affected females also have intellectual disabilities and psychiatric disorders.
Shusei Arafuka, Youta Torii, Ayako Miwa, Itaru Kushima, Hirotaka Sekiguchi, Hiroshige Fujishiro, Chikako Habuchi, Hiroaki Miyahara, Yosuke Kawai, Ran Wei, Katsushi Tokunaga, Norio Ozaki, Mari Yoshida, Shuji Iritani, Yasushi Iwasaki, Masashi Ikeda   +15 more
wiley   +1 more source

Structural Lung Disease in Children and Adolescents With Severe Neurological Disorders

Pediatric Pulmonology, Volume 61, Issue 6, June 2026.
ABSTRACT Background and Objective Children with severe neurological disorders are at risk of secondary respiratory morbidity due to impaired airway clearance and dysphagia, but systematic data on structural lung changes remain scarce. Methods We retrospectively analyzed all clinically indicated chest CT examinations at a tertiary care center (2015–2025)
Daniel A. F. Bernard, Cathrin Dahl, Luca Salhöfer, Anna Pauly, Mathis Steindor, Margarete Olivier, Ulrike Schara‐Schmidt, Matthias Welsner, Bernd Schweiger, Sebastian Zensen, Marcel A. Drews, Johannes Haubold, Michael Forsting, Lale Umutlu, Marcel Opitz, Florian Stehling   +15 more
wiley   +1 more source

Ultrasound Findings in Duchenne Muscular Dystrophy Disease

, 1997
The real-time ultrasonography is a simple, noninvasive procedure that is most suitable for application in pediatric practice. The ultrasonographic appearance of various disorders in children such as progressive muscular dystrophies, infantile spinal ...
강성웅
core  

Robert Zeller, MD (1938–2025)

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 108-109, June 2026.
Gary D. Clark, Phillip L. Pearl
wiley   +1 more source

6‐Shogaol Attenuates Doxorubicin‐Induced Cardiac and Skeletal Muscle Atrophy by Inhibiting E3 Ubiquitin Ligases and Necroptosis

Phytotherapy Research, Volume 40, Issue 6, Page 3132-3149, June 2026.
Doxorubicin induces cardiac and skeletal muscle atrophy by upregulating E3 ubiquitin ligases, inhibiting myogenic regulatory factors, and activating necroptosis. Cardiac atrophy can further exacerbate cardiotoxicity. 6‐Shogaol negatively regulates these processes and attenuates doxorubicin‐induced cardiac and skeletal muscle atrophy.
Xipeng Sun, Yaxian Wang, Quanjun Yang, Bo Xin, Jinlu Huang, Cheng Guo   +5 more
wiley   +1 more source