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Spastin

Discuss literature indexed with the corpus topic “Spastin”.

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Related literature

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.
Spastin
The evolutionarily conserved APP-Spastin cooperation regulates endolysosomal homeostasis and apoptotic cell degradation
Spastin
Genetic landscape of hereditary spastic paraplegias in the Korean population.
Spastin
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.
Spastin
Modeling spastic paraplegia 4 with corticospinal motor neuron-enriched cortical organoids reveals genotype-phenotype and HDAC6-targetable pathology.
Spastin
Intracerebroventricular SPAST-AAV9 gene therapy prevents manifestation of symptoms in a mouse model of SPG4 hereditary spastic paraplegia.
Spastin
Spastin Is Required to Prevent SPAST-Related Demyelination.
Spastin
Reversing Autophagy Inhibition Ameliorates Neurodegeneration in Hereditary Spastic Paraplegia Caused by a Degradation-Resistant SPAST Mutation.
Spastin
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.
Spastin
A rapid ONT-based sequencing approach to capture complete Ataxia-Mutomes (AtaxiaMutSeq)
Spastin

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