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Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting
Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative
disorders characterized by progressive weakness and spasticity of lower limbs, and are …
disorders characterized by progressive weakness and spasticity of lower limbs, and are …
Hereditary spastic paraplegia SPG4: what is known and not known about the disease
Mutations in more than 70 distinct loci and more than 50 mutated gene products have been
identified in patients with hereditary spastic paraplegias, a diverse group of neurological …
identified in patients with hereditary spastic paraplegias, a diverse group of neurological …
Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients
Objective Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the
hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum …
hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum …
Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin
Spastin, the most common locus for mutations in hereditary spastic paraplegias, and katanin
are related microtubule-severing AAA ATPases,,,, involved in constructing neuronal,,, and …
are related microtubule-severing AAA ATPases,,,, involved in constructing neuronal,,, and …
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and
spasticity of the lower limbs, caused by the specific degeneration of the corticospinal tracts …
spasticity of the lower limbs, caused by the specific degeneration of the corticospinal tracts …
Hereditary spastic paraplegia
JK Fink - Current neurology and neuroscience reports, 2006 - Springer
The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic
disorders. HSP is classified according to the mode of inheritance, the HSP locus when …
disorders. HSP is classified according to the mode of inheritance, the HSP locus when …
Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion
Mutations in the gene encoding the microtubule (MT)‐severing protein spastin are the most
common cause of hereditary spastic paraplegia, a genetic condition in which axons of the …
common cause of hereditary spastic paraplegia, a genetic condition in which axons of the …
The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function
Abstract Background: Hereditary Spastic Paraplegia (HSP) is a devastating neurological
disease causing spastic weakness of the lower extremities and eventual axonal …
disease causing spastic weakness of the lower extremities and eventual axonal …
Bioinformatically detectable group of novel regulatory genes and uses thereof
US7250496B2 - Bioinformatically detectable group of novel regulatory genes and uses thereof
- Google Patents US7250496B2 - Bioinformatically detectable group of novel regulatory genes …
- Google Patents US7250496B2 - Bioinformatically detectable group of novel regulatory genes …
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