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Last Updated: 01/07/2026
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Found 2099 publications
DDHD2 possesses both lipase and transacylase capacities that remodel triglyceride acyl chains.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: November 20, 2025
Clinical characteristics and genetic study of a child with Spastic paraplegia 52 due to variant of AP4S1 gene and a literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 13, 2025
Botulinum Toxin Treatment in Hereditary Spastic Paraplegia-A Comprehensive Review and Update.
Journal: Toxins
Published: September 04, 2025
The Impact of VAMP1 Mutations on Synaptic Vesicle Fusion Dynamics in Familial Spastic Disorders.
Journal: Journal of child neurology
Published: August 26, 2025
The hereditary spastic paraplegia type 21 (SPG21) protein is a RAB7A effector that promotes noncanonical mTORC1-catalyzed TFEB phosphorylation and cytoplasmic retention.
Journal: Molecular biology of the cell
Published: August 20, 2025
A case of hereditary spastic paraplegia type 64 with ENTPD1 gene variant
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: August 20, 2025
4-Phenylbutyric Acid Improves Gait Ability of UBAP1-Related Spastic Paraplegia Mouse Model: Therapeutic Potential for SPG80.
Journal: International journal of molecular sciences
Published: August 14, 2025
Fluid Biomarkers in Hereditary Spastic Paraplegia: A Narrative Review and Integrative Framework for Complex Neurodegenerative Mechanisms.
Journal: Genes
Published: August 07, 2025
Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia.
Journal: Journal of neurology
Published: August 02, 2025
Wings of Discovery: Using Drosophila to Decode Hereditary Spastic Paraplegia and Ataxias.
Journal: Cells
Published: July 28, 2025
Last Updated: 01/07/2026