Spastic Paraplegia Type 7 Latest Advances

SPG7-Associated Ataxia May Involve Peripheral Neuropathy as a Key Phenotypic Feature.

Journal: Internal medicine (Tokyo, Japan)

Published: October 08, 2025

DDHD2 possesses both lipase and transacylase capacities that remodel triglyceride acyl chains.

Journal: bioRxiv : the preprint server for biology

Published: October 03, 2025

Development of a Human iPSC-Derived "Corticospinal Tract-on-a-Chip" for Neurodegenerative Disease Research.

Journal: bioRxiv : the preprint server for biology

Published: October 03, 2025

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: September 25, 2025

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

Pathogenic KIF1A R350 Variants Disrupt A Conserved Kinesin-Tubulin Salt Bridge.

Journal: bioRxiv : the preprint server for biology

Published: September 05, 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

Evidence of Dual Molecular Diagnosis of a Young Male Patient With Hereditary Spastic Paraplegia Carrying Two Rare Autosomal Mutations.

Journal: Cureus

Published: August 13, 2025

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

Journal: bioRxiv : the preprint server for biology

Published: August 12, 2025

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SPG7-Associated Ataxia May Involve Peripheral Neuropathy as a Key Phenotypic Feature.

SPG7-Associated Ataxia May Involve Peripheral Neuropathy as a Key Phenotypic Feature.

DDHD2 possesses both lipase and transacylase capacities that remodel triglyceride acyl chains.

DDHD2 possesses both lipase and transacylase capacities that remodel triglyceride acyl chains.

Development of a Human iPSC-Derived "Corticospinal Tract-on-a-Chip" for Neurodegenerative Disease Research.

Development of a Human iPSC-Derived "Corticospinal Tract-on-a-Chip" for Neurodegenerative Disease Research.

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

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.

Pathogenic KIF1A R350 Variants Disrupt A Conserved Kinesin-Tubulin Salt Bridge.

Pathogenic KIF1A R350 Variants Disrupt A Conserved Kinesin-Tubulin Salt Bridge.

The Impact of VAMP1 Mutations on Synaptic Vesicle Fusion Dynamics in Familial Spastic Disorders.

The Impact of VAMP1 Mutations on Synaptic Vesicle Fusion Dynamics in Familial Spastic Disorders.

The hereditary spastic paraplegia type 21 (SPG21) protein is a RAB7A effector that promotes noncanonical mTORC1-catalyzed TFEB phosphorylation and cytoplasmic retention.

The hereditary spastic paraplegia type 21 (SPG21) protein is a RAB7A effector that promotes noncanonical mTORC1-catalyzed TFEB phosphorylation and cytoplasmic retention.

A case of hereditary spastic paraplegia type 64 with ENTPD1 gene variant

A case of hereditary spastic paraplegia type 64 with ENTPD1 gene variant

4-Phenylbutyric Acid Improves Gait Ability of UBAP1-Related Spastic Paraplegia Mouse Model: Therapeutic Potential for SPG80.

4-Phenylbutyric Acid Improves Gait Ability of UBAP1-Related Spastic Paraplegia Mouse Model: Therapeutic Potential for SPG80.

Evidence of Dual Molecular Diagnosis of a Young Male Patient With Hereditary Spastic Paraplegia Carrying Two Rare Autosomal Mutations.

Evidence of Dual Molecular Diagnosis of a Young Male Patient With Hereditary Spastic Paraplegia Carrying Two Rare Autosomal Mutations.

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.