Disease: Neuropathy sensory spastic paraplegia
- A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report
- A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder
- A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways
- A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core
- A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle
- A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif
- A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy
- A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia
- A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype
- A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
- A Rare <em>KIF1A</em> Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
- A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation
- AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies
- Acute Transverse Myelitis (ATM):Clinical Review of 43 Patients With COVID-19-Associated ATM and 3 Post-Vaccination ATM Serious Adverse Events With the ChAdOx1 nCoV-19 Vaccine (AZD1222)
- Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin
- Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2
- ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease
- Application of whole exome sequencing in undiagnosed inherited polyneuropathies
- ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia
- Association of variants in the KIF1A gene with amyotrophic lateral sclerosis
- Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3
- BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy
- Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
- Classifications of neurogenetic diseases: An increasingly complex problem
- Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation
- Clinical features of inherited neuropathy with BSCL2 mutations in Japan
- Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
- Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
- Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
- CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia
- De Novo <em>ATP1A1</em> Variants in an Early-Onset Complex Neurodevelopmental Syndrome
- Distal hereditary motor neuropathies
- Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
- Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation
- Efficacy of the immediate adipose-derived stromal vascular fraction autograft on functional sensorimotor recovery after spinal cord contusion in rats
- Electrodiagnostic Evaluation of Critical Illness Neuropathy
- Electrodiagnostic Evaluation of Critical Illness Neuropathy
- Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
- Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin
- Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
- Genetic and phenotypic characterization of complex hereditary spastic paraplegia
- Genetic distribution in Chinese patients with hereditary peripheral neuropathy
- Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients
- Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis
- Hereditary Neuropathies
- Hereditary neuropathies: An update
- Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
- Heterozygous <em>KIF1A</em> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
- Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia
- Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy
- Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
- KIF1A mutation in a patient with progressive neurodegeneration
- KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
- KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease
- KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement
- Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology
- Mast Syndrome Outside the Amish Community: <em>SPG21</em> in Europe
- Mitochondrial dynamics and inherited peripheral nerve diseases
- Molecular analysis and clinical diversity of distal hereditary motor neuropathy
- Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
- Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up
- Multigeneration family with dominant SPG30 hereditary spastic paraplegia
- Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies
- Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
- Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome
- Neuroblastoma with symptomatic epidural compression in the infant: the AIEOP experience
- Neurological manifestations of mycetoma: a cross-sectional community-based study
- Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
- New spastic paraplegia phenotype associated to mutation of NFU1
- Novel <em>TFG</em> mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
- Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report
- Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
- Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
- Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
- Pathomechanisms of motor neuron death by mutant TFG
- Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
- Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
- Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study
- Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases
- Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia
- REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues
- RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement
- Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
- Sensory-motor neuropathy in a case with SPG35: Expanding the phenotype
- Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders
- Severe Generalized Weakness, Paraplegia following administration of Oxaliplatin in a patient with refractory T-cell non-Hodgkin lymphoma: A case report
- Sphingolipids in neurodegenerative diseases
- SPOAN syndrome: a novel mutation and new ocular findings; a case report
- Sural biopsy to detect the axonal cytoskeleton defects in <em>KIF5A</em>-related Charcot-Marie-Tooth disease type 2
- TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
- TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration
- The Drosophila KIF1A Homolog unc-104 Is Important for Site-Specific Synapse Maturation
- The novel <em>de novo</em> mutation of <em>KIF1A</em> gene as the cause for Spastic paraplegia 30 in a Japanese case
- The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
- Thyrotoxic Neuropathy: A rare cause of acute flaccid paraplegia
- Tropical myelopathies
- Tropical spastic paraparesis
- Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis
- VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases