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[HTML][HTML] Losing the beat: contribution of Purkinje cell firing dysfunction to disease, and its reversal
The cerebellum is a brain structure that is highly interconnected with other brain regions.
There are many contributing factors to cerebellar-related brain disease, such as altered …
There are many contributing factors to cerebellar-related brain disease, such as altered …
[HTML][HTML] Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare early-onset
neurodegenerative disease caused by mutations in the SACS gene, encoding Sacsin. Initial …
neurodegenerative disease caused by mutations in the SACS gene, encoding Sacsin. Initial …
Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by
mutations in SACS gene encoding sacsin, a huge protein highly expressed in cerebellar …
mutations in SACS gene encoding sacsin, a huge protein highly expressed in cerebellar …
Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset
cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular …
cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular …
[HTML][HTML] A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS
Mitochondrial deficits have been observed in animal models of Autosomal-recessive spastic
ataxia of Charlevoix-Saguenay (ARSACS) and in patient-derived fibroblasts. We …
ataxia of Charlevoix-Saguenay (ARSACS) and in patient-derived fibroblasts. We …
Assessment of sacsin turnover in patients with ARSACS: Implications for molecular diagnosis and pathogenesis
Background and Objectives Autosomal recessive spastic ataxia of Charlevoix-Saguenay
(ARSACS) is caused by variations in SACS gene encoding sacsin, a huge multimodular …
(ARSACS) is caused by variations in SACS gene encoding sacsin, a huge multimodular …
[HTML][HTML] Efficient neuroprotective rescue of sacsin-related disease phenotypes in zebrafish
V Naef, M Marchese, A Ogi, G Fichi, D Galatolo… - International Journal of …, 2021 - mdpi.com
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a multisystem
hereditary ataxia associated with mutations in SACS, which encodes sacsin, a protein of still …
hereditary ataxia associated with mutations in SACS, which encodes sacsin, a protein of still …
Homeostatic roles of the proteostasis network in dendrites
Cellular protein homeostasis, or proteostasis, is indispensable to the survival and function of
all cells. Distinct from other cell types, neurons are long-lived, exhibiting architecturally …
all cells. Distinct from other cell types, neurons are long-lived, exhibiting architecturally …
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
G **romerisiou, K Dadouli, C Marogianni… - Journal of Molecular …, 2020 - Springer
ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and
polyneuropathy. A plethora of worldwide distributed mutations have been described so far …
polyneuropathy. A plethora of worldwide distributed mutations have been described so far …
An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study
Abstract Background Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
(ARSACS) and Spastic Paraplegia Type 7 (SPG7) are paradigmatic spastic ataxias (SPAX) …
(ARSACS) and Spastic Paraplegia Type 7 (SPG7) are paradigmatic spastic ataxias (SPAX) …