Results 121 to 130 of about 164,819 (283)

Atrial cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 727-729, April 2025.
Wojciech Kosmala, Monika Przewłocka‐Kosmala   +1 more
wiley   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling [PDF]

Anna Maria Haschke, Anja von Renesse, Eugenio Graceffo, Susanne Morales-Gonzalez, Alessandro Prigione, Claudia Hüebner, Werner Stenzel, Markus Schuelke   +7 more
openalex   +1 more source

Gastrointestinal malrotation and chronic intestinal pseudo‐obstruction in two pediatric patients with Baraitser‐Winter cerebrofrontofacial syndrome

JPGN Reports, EarlyView.
Abstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction.
Veronica Lee, Vikram Raghu, Jeffrey Rudolph, Feras Alissa, Vibha Sood   +4 more
wiley   +1 more source

Review for "Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy"

, 2021

openalex   +1 more source

Dermatomyositis Like Presentation of Anti‐HMGCR Immune Mediated Necrotising Myopathy

JEADV Clinical Practice, EarlyView.
ABSTRACT Extramuscular manifestations of anti‐3‐hydroxy‐3‐methylglutaryl‐coenzyme A reductase (HMGCR) immune‐mediated necrotising myopathy (IMNM) are rare and often overlooked because they are overshadowed by predominant muscular symptoms. The types of cutaneous manifestations can be numerous.
Lionel Leblanc, Lyna Mtimet, Louis Wolff, Evelyne Berlingin, Bruno Couturier   +4 more
wiley   +1 more source

Curare sensitivity in ocular myopathy [PDF]

, 1966
Joby Jacob, George P. Varkey
openalex   +1 more source

Loganin, an Iridoid Glycoside, Alleviates Paclitaxel‐Induced Skeletal Muscle Toxicity by Enhancing Mitochondrial Function, Boosting Antioxidant Defenses, and Reducing Cellular Senescence

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Mitochondrial dysfunction and energy imbalance caused by chemotherapy are key contributors to skeletal muscle atrophy, which severely impacts the quality of life in cancer patients. Paclitaxel, a commonly used chemotherapeutic agent, is known to promote muscle wasting and cellular senescence, largely by impairing mitochondrial function.
Yu‐Fan Chuang, Cai‐Rong Wu, Wan‐Hsuan Chang, Ying‐Jung Su, Hung‐Te Hsu, Fan‐Li Lin, Yi‐Ching Lo   +6 more
wiley   +1 more source

A Comprehensive Overview on Myositis-Specific Antibodies: New and Old Biomarkers in Idiopathic Inflammatory Myopathy

Clinical reviews in allergy and immunology, 2017
M. Satoh, S. Tanaka, A. Ceribelli, S. Calise, E. Chan   +4 more
semanticscholar   +1 more source

mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression.

Cell Metabolism, 2017
Nahid A Khan, Joni Nikkanen, S. Yatsuga, C. Jackson, Liya Wang, Swagat Pradhan, R. Kivelä, A. Pessia, V. Velagapudi, A. Suomalainen   +9 more
semanticscholar   +1 more source