ArticleAnnals of clinical and translational neurology2018
Charcot Marie Tooth disease type 4J with complex central nervous system features.
Article in Annals of clinical and translational neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.Clinical genetics · 2026Review
- Unmasking the Unexpected: FIG4-Related Disorder Presenting with Progressive Supranuclear Palsy-Like Features.Movement disorders clinical practice · 2025Article
- FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.Genes · 2024Review
- Clinical and genetic features of patients suffering from CMT4J.Journal of neurology · 2024Article
- Roles of PIKfyve in multiple cellular pathways.Current opinion in cell biology · 2022Review
- Case report and literature review: Novel compound heterozygousFrontiers in pediatrics · 2022Article
- A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.Annals of neurology · 2020Article
- Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.Molecular genetics & genomic medicine · 2020Article
- Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.Molecular neurobiology · 2019Article
- Protective role of the lipid phosphatase Fig4 in the adult nervous system.Human molecular genetics · 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
5 authors at 5 institutions in 1 country.
Funding
Abstract
We describe a family with Charcot Marie Tooth disease type 4J presenting with features of Charcot Marie Tooth disease plus parkinsonism and aphemia. Genetic testing found two variants in the
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.