UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Learning to Control Emulated Muscles in Real Robots: Towards Exploiting Bio-Inspired Actuator Morphology [PDF]
arXivRecent studies have demonstrated the immense potential of exploiting muscle actuator morphology for natural and robust movement -- in simulation. A validation on real robotic hardware is yet missing. In this study, we emulate muscle actuator properties on hardware in real-time, taking advantage of modern and affordable electric motors.
arxiv
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
The recognition of material present in horse muscle affecting the formation of α-toxin by a strain of Clostridium welchii [PDF]
, 1946 H. J. Rogers, B. C. J. G. Knight
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACTCavin‐4 was identified as a potential autoantigen for immune‐mediated rippling muscle disease (iRMD). To validate this, we developed and tested various immunoassays, including a cell‐based assay (CBA), cavin‐4 recombinant protein ELISA, and multi‐peptide ELISA. Among 19 iRMD patients, all exhibited muscle rippling, and 13 had percussion‐induced
Reghann G. LaFrance‐Corey +13 more
wiley +1 more source
Unsupervised Anomaly Detection on Implicit Shape representations for Sarcopenia Detection [PDF]
2025 IEEE International Symposium on Biomedical ImagingSarcopenia is an age-related progressive loss of muscle mass and strength that significantly impacts daily life. A commonly studied criterion for characterizing the muscle mass has been the combination of 3D imaging and manual segmentations. In this paper, we instead study the muscles' shape.
arxiv
Electron Microscope Studies of Insect Muscle. I. Flight and Coxal Muscle of Hydrophilus Piceus [PDF]
, 1954 George A. Edwards +3 more
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Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi +7 more
wiley +1 more source
The Reducing Enzymes of Dried Yeast (Lebedeff) and of Rabbit Muscle [PDF]
, 1915 Arthur Harden, Roland V Norris
openalex +1 more source