Results 41 to 50 of about 113,489 (310)

“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

American Journal of Neuroradiology, 2019
BACKGROUND AND PURPOSE: The “ears of the lynx” MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the spatacsin vesicle trafficking associated gene, causing
B. Pascual, S. D. de Bot, M. Daniels, M. França, C. Toro, M. Riverol, P. Hedera, M. Bassi, N. Bresolin, B. V. D. van de Warrenburg, B. Kremer, J. Nicolai, P. Charles, J. Xu, S. Singh, N. Patronas, S. Fung, M. Gregory, J. Masdeu   +18 more
semanticscholar   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

Rescue axonal defects by targeting mitochondrial dynamics in hereditary spastic paraplegias

Neural Regeneration Research, 2019
Impaired axonal development and degeneration underlie debilitating neurodegenerative diseases including hereditary spastic paraplegia, a large group of inherited diseases.
Yongchao Mou, Xue-Jun Li
doaj   +1 more source

Intravenous injection of adult human bone marrow mesenchymal stromal cells attenuates spinal cord ischemia/reperfusion injury in a murine aortic arch crossclamping modelCentral MessagePerspective

JTCVS Open, 2021
Objective: We sought to investigate the efficacy of human bone marrow mesenchymal stem/stromal cell (hBM-MSC) in a murine spinal cord ischemia/reperfusion (SCIR) model.
Hidekazu Nakai, MD, Yasuyuki Fujita, MD, PhD, Satoru Masuda, MT, Miki Komatsu, MT, Ayumi Tani, MT, Yutaka Okita, MD, PhD, Kenji Okada, MD, PhD, Atsuhiko Kawamoto, MD, PhD   +7 more
doaj   +1 more source

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

Frontiers in Neurology, 2019
The term hereditary spastic paraplegia (HSP) embraces a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs.
Marta Bellofatto, Giovanna De Michele, A. Iovino, A. Filla, F. Santorelli   +4 more
semanticscholar   +1 more source

Paraplegic standing supported by FES-controlled ankle stiffness [PDF]

, 2001
The objective of this paper was to investigate whether a paraplegic subject-is able to maintain balance during standing by means of voluntary and reflex activity of the upper body while being supported by closed loop controlled ankle stiffness using FES.
Hunt, K.J., Jaime, R.P., Matjacic, Z.
core   +1 more source

How to allocate scarce health resources without discriminating against people with disabilities [PDF]

, 2016
One widely used method for allocating health care resources involves the use of cost-effectiveness analysis (CEA) to rank treatments in terms of quality-adjusted life-years (QALYs) gained.
John, Tyler M., Millum, Joseph, Wasserman, David   +2 more
core   +1 more source

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

Journal of Cell Biology, 2017
Contacts between endosomes and the endoplasmic reticulum (ER) promote endosomal tubule fission, but the mechanisms involved and consequences of tubule fission failure are incompletely understood. We found that interaction between the microtubule-severing
Rachel Allison, J. Edgar, Guy Pearson, Tania Rizo, T. Newton, Sven Günther, Fiamma Berner, J. Hague, J. Connell, J. Winkler, J. Lippincott-Schwartz, C. Beetz, B. Winner, E. Reid   +13 more
semanticscholar   +1 more source

Use of the NESS Handmaster to restore handfunction in tetraplegia: clinical experiences in ten patients [PDF]

, 2000
Objective: To explore possible functional effects of the Handmaster in tetraplegia and to determine suitable patients for the system. \ud \ud Patients: Patients with a cervical spinal cord injury between C4 and C6, motor group 0-3.
Groen, F.A.C.G. in 't, IJzerman, M.J., Snoek, G.J., Stoffers, T.S., Zilvold, G.   +4 more
core   +3 more sources

Case Report: Anesthetic Management of Cesarean Section in a Patient With Paraplegia

Frontiers in Medicine, 2022
BackgroundWith the advancement of medical science and rehabilitative care, more women with spinal cord injury (SCI) can conceive. However, autonomic hyperreflexia due to SCI complicates anesthesia management during cesarean sections.Case PresentationThis
Yongchun Su, Xiaofeng Lei, Jin Yu
doaj   +1 more source