Results 171 to 180 of about 306,770 (339)

Dystrophies

, 2017
Dolz-Marco, Rosa, Boon, Camiel J. F., Gallego-Pinazo, Roberto, Chhablani, J.   +3 more
openaire   +3 more sources

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Surgical treatment of glaucoma associated with the Frank-Kamenetsky’s syndrome (а case report)

Офтальмохирургия, 2015
Purpose. To submit clinical features and the effectiveness of surgical treatment of patients with glaucoma associated with the Frank-Kamenetsky’s syndrome.Material and method. We examined two patients with the Frank-Kamenetsky’s syndrome.
A. V. Sidorova, A. V. Opletina, K. G. Khliyan, A. M. Demchinsky   +3 more
doaj  

Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy [PDF]

, 2011
Nathalie Goemans, M. Tulinius, Johanna T. van den Akker, Brigitte E. Burm, Peter F. Ekhart, Niki Heuvelmans, Tjadine M. Holling, Anneke A. M. Janson, Gerard Platenburg, Jessica A. Sipkens, J. M. A. Sitsen, Annemieke Aartsma‐Rus, Gert‐Jan B. van Ommen, Gunnar Buyse, Niklas Darín, Jan J.G.M. Verschuuren, G. Campion, Sjef J. de Kimpe, Judith C. van Deutekom   +18 more
openalex   +1 more source

Transcriptome Alterations in Myotonic Dystrophy Frontal Cortex [PDF]

, 2020
Brittney A. Otero, Kiril Poukalov, Ryan P. Hildebrandt, Charles A. Thornton, Kenji Jinnai, Harutoshi Fujimura, Takashi Kimura, Katharine A. Hagerman, Jacinda B. Sampson, John Day, Eric T. Wang   +10 more
openalex   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, EarlyView.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

Single‐cell RNA sequencing revealed the T‐cell heterogeneity and exhaustion subsets of Helicobacter pylori‐induced gastritis‐to‐cancer transformation

VIEW, EarlyView.
H. pylori infection is a major cause of stomach cancer, but its effect on immune cells in tumors is unclear. Using single‐cell sequencing, we mapped the stomach tumor environment and discovered a specific exhausted T‐cell subtype, marked by the FYB1 gene, that is abundant in H. pylori‐positive tumors and linked to patient prognosis. Our findings reveal
Yanhui Yang, Yanxia Liu, Xiaole Guo, Zhaorun Li, Ziyu Liu, Shuming Zhang, Yuma Yang, Jun Liu, Shoucheng Ma, Linke Ma, Xianmei Chen, Xue Li, Yuanyuan Tang, Xiaoling Ding, Xiaofei Li, Qian Hao, Yanjie You, Tingting Yang, Qingrui Li, Xue Zhang, Sihan Zhang, Hengjun Gao, Shengjuan Hu   +22 more
wiley   +1 more source

Pregnancy Decision‐Making Among Women With Physical Disabilities: Cross‐Sectional Survey Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective Understand the pregnancy informational needs and decision‐making of women with physical disabilities. Design Cross‐sectional. Setting Community. Sample 114 adult American women with physical disabilities who had experience making a decision about pregnancy while disabled. Methods Online survey.
Claire Z. Kalpakjian, Susan D. Ernst, Heidi J. Haapala, Melissa L. Barber, Brittany R. Orians, Lukonde Mulenga, Shannen M. McIntosh, Julia Shah, Jodi M. Kreschmer, Rebecca Parten, Sara Rosenblum, Gina M. Jay   +11 more
wiley   +1 more source

Cardiac conduction abnormalities in myotonic dystrophy type I: The ongoing value of the ECG. [PDF]

Int J Cardiol Heart Vasc
Abumayyaleh M, Schupp T, Behnes M, Akin I.   +3 more
europepmc   +1 more source