A perspective on the control of FES-supported standing [PDF]
This special section is about the control of electrical stimulators to restore standing functions to paraplegics. It addresses several important topics regarding the interactions of the intact central nervous systems (CNS) with the artificial control ...
Donaldson, Nick, Veltink, Peter H.
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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9.
M. Pennings+23 more
semanticscholar +1 more source
Myelin pathology: Involvement of molecular chaperones and the promise of chaperonotherapy [PDF]
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.+4 more
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“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
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+18 more
semanticscholar +1 more source
Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. [PDF]
Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the ...
Behnam, M+5 more
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Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature
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+4 more
semanticscholar +1 more source
Prevalence and Risk Factors for Presumptive Ascending/Descending Myelomalacia in Dogs after Thoracolumbar Intervertebral Disk Herniation [PDF]
Background: Ascending/descending myelomalacia (ADMM) is a severe complication of thoracolumbar intervertebral disk herniation (TL-IVDH) in dogs. Hypothesis/Objectives: To investigate the prevalence and risk factors for ADMM in nonambulatory dogs with ...
Aikawa+34 more
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Rescue axonal defects by targeting mitochondrial dynamics in hereditary spastic paraplegias
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
A clinical impression of a significant difference in the incidence of pain among spinal paralytics at two Spinal Centres, one in Australia, the other in the United States, has been substantiated by a survey of the patients of the two Centres. A detailed analysis of the possible factors explaining this difference in the incidence of pain was carried out
openaire +3 more sources
Paraplegic standing supported by FES-controlled ankle stiffness [PDF]
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.
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