Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. [PDF]
, 1985 I Hausmanowa-Pétrusewicz +2 more
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Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development
Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah +8 more
wiley +1 more source
Alternative Splicing Regulation in Metabolic Disorders
Obesity Reviews, EarlyView.ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
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Learning Cortico-Muscular Dependence through Orthonormal Decomposition of Density Ratios [PDF]
arXivThe cortico-spinal neural pathway is fundamental for motor control and movement execution, and in humans it is typically studied using concurrent electroencephalography (EEG) and electromyography (EMG) recordings. However, current approaches for capturing high-level and contextual connectivity between these recordings have important limitations.
arxiv
Childhood spinal muscular atrophy induces alterations in contractile and regulatory protein isoform expressions [PDF]
, 2008 L. Stevens +8 more
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Experimental Physiology, EarlyView.Abstract Duchenne muscular dystrophy (DMD) is characterized by respiratory muscle injury and weakness, ultimately leading to respiratory failure. Impaired respiratory muscle performance, fibrosis and inflammation in early disease are evident in the dystrophin‐deficient mdx mouse model of DMD.
Michael N. Maxwell +3 more
wiley +1 more source
Optimizing Dynamic Balance in a Rat Robot via the Lateral Flexion of a Soft Actuated Spine [PDF]
arXivBalancing oneself using the spine is a physiological alignment of the body posture in the most efficient manner by the muscular forces for mammals. For this reason, we can see many disabled quadruped animals can still stand or walk even with three limbs.
arxiv
The Spectrum of Motor Neuron Diseases: From Childhood Spinal Muscular Atrophy to Adult Amyotrophic Lateral Sclerosis [PDF]
, 2015 Stacey A. Sakowski, Eva L. Feldman
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The Journal of Physiology, EarlyView.Abstract figure legend With ageing and age‐related neurodegenerative diseases, the amount of GABA and GABAergic inhibition as well as the modulation (indicated by sine wave) of GABAergic inhibition is reduced, whereas excitation is increased. In many parts of the brain, this leads to a mismatch of facilitatory (green neurons) and inhibitory (red ...
Wolfgang Taube, Benedikt Lauber
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Exploring neuronal mechanisms of osteosarcopenia in older adults
The Journal of Physiology, EarlyView.Abstract figure legend The mechanosensitive osteocytic network within the bone matrix acts as a receptor and plays a crucial role in the functional adaptation of bone to mechanical loading. Through mechanotransduction, osteocytes convert mechanical impulses into electrical signals, which are transmitted via afferent nerves to sympathetic preganglionic ...
Ilhan Karacan, Kemal Sıtkı Türker
wiley +1 more source