Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients.

Identification of myokymia in adult-onset hereditary spastic paraplegia type 79A: Implications for the phenotypic spectrum.

Finite Element-Based Biomechanical Evaluation of Patient-Specific Insoles for a Pediatric Patient with Hereditary Spastic Paraplegia Using the Taguchi Method.

Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.

Miglustat does not impact clinical progression in patients with spastic paraplegia type 11.

[Hereditary spastic paraplegia of type 11: towards therapeutic options].

Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26).

Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11: a case report.

Nutritional Approaches in Neurodegenerative Disorders: A Mini Scoping Review with Emphasis on SPG11-Related Conditions.

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.

KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity.

One gene, many phenotypes: the role of KIF5A in neurodegenerative and neurodevelopmental diseases.

The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation.

Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment.

A rare case of hereditary spastic paraplegia: Case report.

Cell type-specific gene therapy confers protection against motor neuron disease caused by a TFG variant.

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.

A pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2 causing spastic paraplegia 77.

[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation].

'Ear of the lynx' sign: hereditary spastic paraplegia (HSP) type 11.

Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).

Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia.

Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.

Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11.

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

Periodic Alternating Nystagmus, Ataxia, and Spasticity: A Unique Presentation of Spastic Paraplegia 7-Related Hereditary Spastic Paraplegia.

Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.

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.

Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.

A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing.

Liver-X-receptor agonists rescue axonal degeneration in SPG11-deficient neurons via regulating cholesterol trafficking.

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report.

Syringomyelia: A New Phenotype of SPG11-Related Hereditary Spastic Paraplegia?

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.

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

Case report: High-frequency repetitive transcranial magnetic stimulation for treatment of hereditary spastic paraplegia type 11.

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.

Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28.

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China.

Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy.

Association of variants in the KIF1A gene with amyotrophic lateral sclerosis.

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators.

Age-Dependent Increase in Schmidt-Lanterman Incisures and a Cadm4-Associated Membrane Skeletal Complex in Fatty Acid 2-hydroxylase Deficient Mice: a Mouse Model of Spastic Paraplegia SPG35.

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province.

SPG11: clinical and genetic features of seven Czech patients and literature review.

A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.

Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons.

Preimplantation Genetic Testing for Spastic Paraplegia Type 3.

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Potential markers for sample size estimations in hereditary spastic paraplegia type 5.

Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in.

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.

Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.

A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene.

Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.

Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.

A new family with spastic paraplegia type 51 and novel mutations in AP4E1.

Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.

Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes.

[Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4].

Hereditary spastic paraplegia: An "ears of the lynx" magnetic resonance imaging sign in a patient with recessive genetic type 11.

[Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia].

Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage.

Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.

A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity.

Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study.

Efficacy of a Combined Treatment of Botulinum Toxin and Intensive Physiotherapy in Hereditary Spastic Paraplegia.

Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder.

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.

[Hereditary spastic paraplegia type 4 (SPG4) in Russian patients].

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.

Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia.

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.

Tensor-based morphometry using scalar and directional information of diffusion tensor MRI data (DTBM): Application to hereditary spastic paraplegia.

Functional differences of short and long isoforms of spastin harboring missense mutation.

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.

Expression of N471D strumpellin leads to defects in the endolysosomal system.

[Hereditary optic neuropathies in pediatric ophthalmology].

Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Clinical and genetic characterization of AP4B1-associated SPG47.

Multigeneration family with dominant SPG30 hereditary spastic paraplegia.

Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2.

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.

Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.

A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.

Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin.

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

Combined Treatment Fkt-Botulinum Toxin Type A (Btx-A) in Patients with Strumpell-Lorrain Disease.

TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.

Hereditary spastic paraplegia type 11 with a very late onset.

Dopa-responsive dystonia--clinical and genetic heterogeneity.