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Last Updated: 10/31/2025

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Found 131 publications

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: September 17, 2025

Genotype-Phenotype Distinctions in Spastic Paraplegia 4 Reveal HDAC6 as a Therapeutic Target.

Genotype-Phenotype Distinctions in Spastic Paraplegia 4 Reveal HDAC6 as a Therapeutic Target.

Journal: bioRxiv : the preprint server for biology
Published: August 12, 2025

Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study.

Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study.

Journal: Genes
Published: July 17, 2025

Spinal cord structural changes in SPG4: insights from a large cohort using advanced neuroimaging.

Spinal cord structural changes in SPG4: insights from a large cohort using advanced neuroimaging.

Journal: Journal of neurology
Published: June 18, 2025

Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.

Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.

Journal: Journal of neurology
Published: February 19, 2025

Unraveling Isoform Complexity: The Roles of M1- and M87-Spastin in Spastic Paraplegia 4 (SPG4).

Unraveling Isoform Complexity: The Roles of M1- and M87-Spastin in Spastic Paraplegia 4 (SPG4).

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 26, 2024

Novel de novo SPAST mutation in a Han Chinese SPG4 patient: a case report.

Novel de novo SPAST mutation in a Han Chinese SPG4 patient: a case report.

Journal: Frontiers in genetics
Published: April 05, 2024

Advance of research on Hereditary spastic paraplegia type 4

Advance of research on Hereditary spastic paraplegia type 4

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: January 03, 2024

Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.

Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.

Journal: Clinical genetics
Published: December 09, 2023

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.

Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.

Journal: Frontiers in neurology
Published: September 19, 2023

A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1.

A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1.

Journal: Journal of sleep research
Published: June 14, 2023

A case of spastic paraplegia with SPG4 and SPG3 associated mutations

A case of spastic paraplegia with SPG4 and SPG3 associated mutations

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: June 14, 2023
Showing 1-12 of 131

Last Updated: 10/31/2025