ArticleJournal of neurology, neurosurgery, and psychiatry2017
Truncating mutations in
Article in Journal of neurology, neurosurgery, and psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.Journal of neurology · 2021Pooled it
- Motor Evoked Potentials in Hereditary Spastic Paraplegia-A Systematic Review.Frontiers in neurology · 2019Pooled it
- Domain-dependent uncoupling of the co-chaperone and E3 ubiquitin ligase CHIP underlies heterogeneity in spinocerebellar ataxia 48.The Journal of biological chemistry · 2026Article
- Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4.Brain : a journal of neurology · 2026Article
- Article
- The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland.Orphanet journal of rare diseases · 2025Article
- Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery.Current biology : CB · 2024Article
- NovelFrontiers in genetics · 2024Article
- Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.Neurology. Genetics · 2022Article
- A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Phosphorylation of Spastin Promotes the Surface Delivery and Synaptic Function of AMPA Receptors.Frontiers in cellular neuroscience · 2022Article
- Complicated SPG4 presenting with recurrent urinary tract infection.Journal of community hospital internal medicine perspectives · 2020Article
- Spastin depletion increases tubulin polyglutamylation and impairs kinesin-mediated neuronal transport, leading to working and associative memory deficits.PLoS biology · 2020Article
- Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).Journal of neurology · 2020Article
- Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.Scientific reports · 2019Article
- Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.Human molecular genetics · 2019Article
- Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Brain : a journal of neurology · 2018Article
- Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis.Orphanet journal of rare diseases · 2018Article
- Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.Frontiers in neurology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundThe hereditary spastic paraplegias (HSPs) are a rare and heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive lower limb spasticity. They are classified as either 'pure' or 'complex' where spastic paraplegia is complicated with additional neurological features. Mutations in the spastin gene (
methodsWe assessed in detail the phenotypic and genetic spectrum of
resultsThis study, one of the largest cohorts of genetically confirmed spastin patients to date, contributes with the discovery of a significant number of novel
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.