ArticleAnnals of clinical and translational neurology2017
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of
Article in Annals of clinical and translational neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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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.
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Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14-Associated Neurodegeneration: A Case Report and Literature Review.Movement disorders clinical practice · 2026Article
- Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.Movement disorders clinical practice · 2025Article
- Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.Genetics in medicine open · 2024Article
- Unmistakable Truncal Dystonia Mistaken as Psychogenic: A Case Report of VAC14-Related Neurodegeneration.Movement disorders clinical practice · 2023Article
- Autophagic lysosome reformation in health and disease.Autophagy · 2023Review
- Roles of PIKfyve in multiple cellular pathways.Current opinion in cell biology · 2022Review
- An Emerging Role for Phosphoinositides in the Pathophysiology of Parkinson's Disease.Journal of Parkinson's disease · 2021Review
- Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.Molecular genetics & genomic medicine · 2020Review
- Article
- Loss of MYO5B expression deregulates late endosome size which hinders mitotic spindle orientation.PLoS biology · 2019Article
- VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation.Movement disorders clinical practice · 2019Article
- Cerebral hypomyelination associated with biallelic variants of FIG4.Human mutation · 2019Article
- Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
Abstract
Objective: To characterize the clinical features and neuropathology associated with recessive Methods: Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressive neurological disease presenting in early childhood in two deceased siblings with distinct neuropathological features on post mortem examination. Results: We identified compound heterozygous variants in Interpretation: Our findings reveal a distinct clinicopathological phenotype associated with recessive
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.