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Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients
M Erfanian Omidvar, S Torkamandi, S Rezaei… - Journal of …, 2021 - Springer
Aims The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited
neurodegenerative disorders. Although, several genotype–phenotype studies have carried …
neurodegenerative disorders. Although, several genotype–phenotype studies have carried …
Neuroimaging in hereditary spastic paraplegias: current use and future perspectives
FF Da Graca, TJR De Rezende… - Frontiers in …, 2019 - frontiersin.org
Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by
progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts …
progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts …
Clinical and genetic study of hereditary spastic paraplegia in Canada
Objective: To describe the clinical, genetic, and epidemiologic features of hereditary spastic
paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors …
paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors …
ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model
JH Lim, HM Kang, DH Kim, B Jeong, DY Lee… - Journal of Experimental …, 2023 - rupress.org
ARL6IP1 is implicated in hereditary spastic paraplegia (HSP), but the specific pathogenic
mechanism leading to neurodegeneration has not been elucidated. Here, we clarified the …
mechanism leading to neurodegeneration has not been elucidated. Here, we clarified the …
Hereditary spastic paraplegia: from genes, cells and networks to novel pathways for drug discovery
A Mackay-Sim - Brain Sciences, 2021 - mdpi.com
Hereditary spastic paraplegia (HSP) is a diverse group of Mendelian genetic disorders
affecting the upper motor neurons, specifically degeneration of their distal axons in the …
affecting the upper motor neurons, specifically degeneration of their distal axons in the …
Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration
Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron
disorders characterized by progressive weakness and spasticity of the lower limbs. HSP …
disorders characterized by progressive weakness and spasticity of the lower limbs. HSP …
Frontotemporal pathology in motor neuron disease phenotypes: insights from neuroimaging
MC McKenna, P Corcia, P Couratier, WF Siah… - Frontiers in …, 2021 - frontiersin.org
Frontotemporal involvement has been extensively investigated in amyotrophic lateral
sclerosis (ALS) but remains relatively poorly characterized in other motor neuron disease …
sclerosis (ALS) but remains relatively poorly characterized in other motor neuron disease …
[HTML][HTML] Liver-X-receptor agonists rescue axonal degeneration in SPG11-deficient neurons via regulating cholesterol trafficking
Abstract Spastic paraplegia type 11 (SPG11) is a common autosomal recessive form of
hereditary spastic paraplegia (HSP) characterized by the degeneration of cortical motor …
hereditary spastic paraplegia (HSP) characterized by the degeneration of cortical motor …
Brain Structural Signature of RFC1‐Related Disorder
PCAAP Matos, TJR Rezende, GS Schmitt… - Movement …, 2021 - Wiley Online Library
Background The cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was
initially described in the early 1990s as a late‐onset slowly progressive condition. Its …
initially described in the early 1990s as a late‐onset slowly progressive condition. Its …
Systematic analysis of brain MRI findings in adaptor protein complex 4–associated hereditary spastic paraplegia
Background and Objectives AP-4-associated hereditary spastic paraplegia (AP-4-HSP:
SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary …
SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary …