Showing 241 - 260 results of 784 for search '"paraplegia"', query time: 0.08s Refine Results
  1. 241

    Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations by Hannah C. Leeson, Denise Goh, David Coman, Ernst J. Wolvetang

    Published 2022-10-01
    “…Hereditary spastic paraplegia 56 (SPG56) is an extremely rare autosomal recessive disorder caused by mutations in the CYP2U1 gene, involved in fatty acid metabolism. …”
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    Delayed postoperative incomplete paraplegia due to development of extensive thoracolumbar dural ossification in an ankylosing spondylitis patient following lumbar pedicle subtraction osteotomy: A case report by Xu Chen, Bang-ping Qian, Yong Qiu

    Published 2024-06-01
    “…Herein, we reported a 49-year-old AS patient who presented delayed incomplete paraplegia due to the development of extensive thoracolumbar DO after L3 pedicle subtraction osteotomy (PSO), aiming to help spinal surgeons to have a more comprehensive understanding of the possible pathogenic mechanism, diagnosis, surgical and prognostic implications of DO in AS patients.…”
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  14. 254

    High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia by Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E. Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D. Buttermore, Lee Barrett, Georg H. H. Borner, Alexandra K. Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin

    Published 2024-01-01
    “…In this study, we developed a high-throughput screening assay to identify molecules that correct aberrant protein trafficking in adapter protein complex 4 (AP-4) deficiency, a rare but prototypical form of childhood-onset hereditary spastic paraplegia characterized by mislocalization of the autophagy protein ATG9A. …”
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    Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4) by Tobias Lindig, Benjamin Bender, Eva Bürkle, Vinod Kumar, Ulrike Ernemann, Ludger Schöls, Tim W. Rattay

    Published 2022-12-01
    “…Automated data analysis was tested for usability in a small cohort of patients with hereditary spastic paraplegia type 4 (SPG4). We analyzed 3T MRI 3D-T1 datasets of n = 25 SPG4 patients and matched healthy controls using a commercial segmentation tool (AIRAscore structure 2.0.1) and standard VBM. …”
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