Spastic Paraplegia Type 4 Latest Advances

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.

Journal: Frontiers in genetics

Published: April 05, 2024

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.

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.

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.

Journal: Journal of sleep research

Published: June 14, 2023

A case of spastic paraplegia with SPG4 and SPG3 associated mutations

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: June 14, 2023

Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report.

Journal: World journal of clinical cases

Published: January 06, 2023

New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.

Journal: European journal of neurology

Published: December 23, 2022

A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family

Journal: Zhonghua nei ke za zhi

Published: December 01, 2022

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4.

Journal: International journal of molecular sciences

Published: September 26, 2022

Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4).

Journal: Scientific reports

Published: June 27, 2022

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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).

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.

Advance of research on Hereditary spastic paraplegia type 4

Advance of research on Hereditary spastic paraplegia type 4

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.

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.

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.

A case of spastic paraplegia with SPG4 and SPG3 associated mutations

A case of spastic paraplegia with SPG4 and SPG3 associated mutations

Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report.

Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report.

New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.

New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.

A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family

A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4.

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4.

Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4).

Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4).