Results 91 to 100 of about 75,494 (295)

Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]

, 2013
Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core   +1 more source

Advances in Invertebrate Biohybrid Robotics: Leveraging Nature for Locomotion and Sensing in Engineered Systems

Advanced Intelligent Systems, EarlyView.
This review explores invertebrate biohybrid robots that integrate living organisms—such as insects, jellyfish, spiders, and sea slugs—into robotic systems for locomotion, sensing, and actuation. The advantages in efficiency and cost, discuss control, and power challenges are highlighted, and future considerations to guide the development of sustainable,
Charles J. Fraga, Matticus S. Brown, Nicole W. Xu   +2 more
wiley   +1 more source

Robotic Needle Steering for Percutaneous Interventions: Sensing, Modeling, and Control

Advanced Intelligent Systems, EarlyView.
This review examines recent advances in robotic needle steering for percutaneous interventions, highlighting closed‐loop sensing, physics‐informed tissue‐needle interaction modeling, and real‐time trajectory planning and control. It synthesizes innovations in deep learning, fiber‐optic feedback, and adaptive control strategies, and outlines emerging ...
Fangjiao Zhao, Ruixue Xu, Wujun Zhao, Xi‐Ming Sun, Yu Sun, Changsheng Dai   +5 more
wiley   +1 more source

Factors modifying the course of spinal muscular atrophy 5q

Нервно-мышечные болезни
Proximal spinal muscular atrophy 5q (SMA 5q) is a severe autosomal recessive neuromuscular disease characterized by progressive symptoms of flaccid paralysis and muscular atrophy due to degeneration of α-motor neurons of the anterior horns of the spinal ...
M. A. Akhkiamova, O. A. Shchagina, A. V. Polyakov   +2 more
doaj   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

From the cell membrane to the nucleus: unearthing transport mechanisms for Dynein [PDF]

, 2012
Mutations in the motor protein cytoplasmic dynein have been found to cause Charcot-Marie-Tooth disease, spinal muscular atrophy, and severe intellectual disabilities in humans. In mouse models, neurodegeneration is observed.
A. Friedman, A. G. Hendricks, A. G. Hendricks, A. J. Roberts, A. Kunwar, A. P. Carter, A. V. Kuznetsov, A. V. Kuznetsov, Anotida Madzvamuse, C. Korn, C. L. Brown, Caroline A. Garrett, D. A. Smith, D. Tsygankov, E. Bananis, J. L. Ross, J. Munárriz, J. W. Driver, J. W. Murray, J. W. Wojcieszyn, K. Imamula, K. M. Ori-McKenney, K. S. Zadeh, L. W. Duchen, Laurie Crossley, M. A. Gee, M. B. Harms, M. Bier, M. H. Willemsen, M. Hafezparast, M. N. Weedon, M. Schliwa, M. Schuster, M. Schuster, Majid Hafezparast, O. J. Driskell, P. Ashwin, R. D. Vale, S. A. Burgess, S. Ally, S. C. Schaffner, S. Hoepfner, S. Lubery, S. Mitragotri, S. Mukherji, T. D. Pollard, T. Kon, V. Soppina, W. Deng, X. J. Chen, Y. Gao, Y. Imafuku, Y. Zhang, Y. Zhang   +53 more
core   +1 more source

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

Animal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie, Zemao Huang, Ziyang Huang, Deqing Luo, Zhangxin Chen, Li Xie, Lingqi Zhu, Hui Liu, Kejian Lian, Paolo Alberton, Denitsa Docheva, Dasheng Lin   +11 more
wiley   +1 more source

Synthesis, Biological Activity, and Molecular Dynamics Simulations of LNA‐Charge Neutral Linkages for Enhanced Splice‐Switching Antisense Oligonucleotides

Angewandte Chemie, EarlyView.
Splice‐switching oligonucleotides are used to treat severe genetic conditions including Duchenne Muscular Dystrophy, but new chemistries are urgently required to improve their efficacy. In this work locked nucleic acid (LNA) is coupled to different charge neutral DNA backbones which are studied by structural, thermodynamic, and biological methods.
Alice Kennett, Lillian Lie, Martin Flerin, Belma Zengin Kurt, Ysobel R. Baker, Alyssa C. Hill, Abinaya Ramesh, Matthew J.A. Wood, Debashis Dhara, Afaf H. El‐Sagheer, Fernanda Duarte, Tom Brown   +11 more
wiley   +2 more sources

Rehabilitation management for patients with spinal muscular atrophy: a review

Orphanet Journal of Rare Diseases
The rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients’ quality of life.
Wei Song, Xiaohua Ke
doaj   +1 more source

Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation

Frontiers in Genetics
A boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development.
Ewa Gajewska, Jędrzej Fliciński, Magdalena Sobieska, Joanna Michalska, Marcin Żarowski, Barbara Steinborn   +5 more
doaj   +1 more source