ArticleQuantitative imaging in medicine and surgery2019
Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to
Article in Quantitative imaging in medicine and surgery, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.Cerebellum (London, England) · 2024Pooled it
- Functional Characterization of a Novel Splice-Altering Intronic Variant in AMPD2 Associated with Pontocerebellar Hypoplasia Type 9.Cerebellum (London, England) · 2026Article
- Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.Human genome variation · 2026Article
- Neuroimaging in inborn errors of immunity: More than infections.Neuroradiology · 2026Review
- 선천성 뇌 질환의 영상 소견: 임상 화보.Journal of the Korean Society of Radiology · 2026Review
- Biallelic Loss-of-Function Variant inInternational journal of molecular sciences · 2025Article
- The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy.Acta epileptologica · 2025Review
- Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Cerebellum (London, England) · 2024Article
- Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.Brain : a journal of neurology · 2024Article
- Pontocerebellar Hypoplasia Type 9: A Case Study Highlighting Distinctive Magnetic Resonance Imaging Features.Cureus · 2024Article
- Anything but Little: a Pictorial Review on Anatomy and Pathology of the Cerebellum.Clinical neuroradiology · 2023Review
- TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations.Cerebellum (London, England) · 2023Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Article
- Pontocerebellar hypoplasia type-9 due to a novel p.Arg503Ter truncating variant in AMPD2: a report from India.Acta neurologica Belgica · 2023Article
- Heterozygous Nonsense Variants in the Ferritin Heavy Chain GenemedRxiv : the preprint server for health sciences · 2023Article
- Prenatal exome sequencing: A useful tool for the fetal neurologist.Clinical genetics · 2022Article
- Fetal and neonatal MRI features ofQuantitative imaging in medicine and surgery · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pontocerebellar hypoplasia type 9 (PCH9) is a rare autosomal recessive neurodegenerative disorder with prenatal onset caused by mutations in adenosine monophosphate deaminase 2 (
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.