Results 51 to 60 of about 113,489 (310)

Myelin pathology: Involvement of molecular chaperones and the promise of chaperonotherapy [PDF]

, 2019
The process of axon myelination involves various proteins including molecular chaperones. Myelin alteration is a common feature in neurological diseases due to structural and functional abnormalities of one or more myelin proteins.
Cappello F., Conway De Macario E., Macario A. J. L., Marino Gammazza A., Scalia F.   +4 more
core   +1 more source

Safety and Feasibility of a Novel Exoskeleton for Locomotor Rehabilitation of Subjects With Spinal Cord Injury: A Prospective, Multi-Center, and Cross-Over Clinical Trial

Frontiers in Neurorobotics, 2022
ObjectiveTo evaluate the safety, walking efficiency, physiological cost, don and doff time cost, and user satisfaction of Ai-robot.DesignProspective, multi-center, and cross-over trial.SubjectsParaplegic subjects (n = 40) with T6–L2 level spinal cord ...
Sijing Chen, Sijing Chen, Zhanbin Wang, Yongqiang Li, Yongqiang Li, Jiashuai Tang, Xue Wang, Xue Wang, Liping Huang, Zhuangwei Fang, Tao Xu, Jiang Xu, Feng Guo, Yizhao Wang, Jianjun Long, Jianjun Long, Xiaodong Wang, Xiaodong Wang, Fang Liu, Fang Liu, Jianfeng Luo, Jianfeng Luo, Jianfeng Luo, Yulong Wang, Yulong Wang, Xiaolin Huang, Zishan Jia, Mei Shuai, Jianan Li, Jianan Li   +29 more
doaj   +1 more source

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
We report a novel IBA57 variant in a pediatric case, with pathogenicity confirmed through familial segregation analysis, Sanger sequencing, 3D protein modeling, and evolutionary conservation studies. Mitochondrial complex activity assays demonstrated functional impairment. A comprehensive review of literature further elucidates the genotypic‐phenotypic
Xu J, Zhang X, Hua Y, Yang L, Shi D, Qiu S.   +5 more
europepmc   +2 more sources

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.

Brain : a journal of neurology, 2019
Hereditary spastic paraplegias refer to a heterogeneous group of neurodegenerative disorders resulting from degeneration of the corticospinal tract.
Xiang Lin, Hui-Zhen Su, En-lin Dong, Xiao-hong Lin, Miao Zhao, Can Yang, Chong Wang, Jie Wang, Yi-Jun Chen, Hongjie Yu, Jianfeng Xu, Li-xiang Ma, Z. Xiong, Ning Wang, Wan-Jin Chen   +14 more
semanticscholar   +1 more source

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

eNeurologicalSci, 2019
Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy.
Keisuke Yoshikawa, Motoi Kuwahara, Kazumasa Saigoh, Hiroyuki Ishiura, Yuko Yamagishi, Yuta Hamano, Makoto Samukawa, Hidekazu Suzuki, Makito Hirano, Yoshiyuki Mitsui, Shoji Tsuji, Susumu Kusunoki   +11 more
doaj   +1 more source

Observation of experimental lathyrism in the rat [PDF]

, 1959
The clinical manifestations, roentgenologic studies, and histopathologic findings of the central nervous system of rats with induced lathyrism were described.
Lee, HUN Jae
core   +1 more source

Adverse in-hospital outcomes in patients with paraplegia who undergo radical prostatectomy. [PDF]

BJU Int
Objective To test for the association between paraplegia and perioperative complications as well as in‐hospital mortality after radical prostatectomy (RP) for non‐metastatic prostate cancer. Patients and Methods We identified patients who underwent RP (National Inpatient Sample [NIS] 2000–2019), stratified according to paraplegia status.
Marmiroli A, Di Bello F, Peñaranda NR, Longoni M, Le QC, Falkenbach F, Nicolazzini M, Catanzaro C, Tian Z, Goyal JA, Luzzago S, Mistretta FA, Piccinelli M, Saad F, Shariat SF, Briganti A, Chun FKH, Micali S, Longo N, Graefen M, Palumbo C, Schiavina R, Musi G, Karakiewicz PI.   +23 more
europepmc   +2 more sources

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Paraplegia after coronary artery bypass surgery: An uncommon complication in a patient with history of thoracic endovascular aortic repair

Journal of Vascular Surgery Cases and Innovative Techniques, 2018
Neurologic lesions are unusual complications after coronary artery bypass surgery. Among them, paraplegia is one of the rarest, with only a few cases reported in the literature.
Aurélien Vallée, MD, Stephan Haulon, MD, PhD, Alexandre Azmoun, MD, Julien Guihaire, MD, PhD   +3 more
doaj   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source