ArticleAmerican journal of human genetics2011
Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders.European journal of human genetics : EJHG · 2026Article
- Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA mNature communications · 2024Article
- Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.Biomolecules · 2023Review
- Rare Neurologic Disease-Associated Mutations of AIMP1 are Related with Inhibitory Neuronal Differentiation Which is Reversed by Ibuprofen.Medicines (Basel, Switzerland) · 2020Article
- Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.PloS one · 2018Article
- Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Brain : a journal of neurology · 2017Article
- Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.European journal of human genetics : EJHG · 2016Article
- The N terminus of pro-endothelial monocyte-activating polypeptide II (EMAP II) regulates its binding with the C terminus, arginyl-tRNA synthetase, and neurofilament light protein.The Journal of biological chemistry · 2015Article
- AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.Neurogenetics · 2014Article
- Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.American journal of human genetics · 2011Article
- Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.American journal of human genetics · 2011Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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.