ArticleEuropean journal of human genetics : EJHG2018
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.
Article in European journal of human genetics : EJHG, 2018. 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
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Who cites it
13 citing papers in PubMed.
- Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.bioRxiv : the preprint server for biology · 2024Article
- Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.Cells · 2023Article
- Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrin.bioRxiv : the preprint server for biology · 2023Article
- Spectrins: molecular organizers and targets of neurological disorders.Nature reviews. Neuroscience · 2023Review
- Spinocerebellar ataxias (SCAs) caused by common mutations.Neurogenetics · 2021Review
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Nature genetics · 2021Article
- Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy.Cerebellum (London, England) · 2021Article
- Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.Annals of clinical and translational neurology · 2021Article
- Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.International journal of molecular sciences · 2021Article
- A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant inBMJ case reports · 2020Article
- Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.Cerebellum (London, England) · 2020Article
- Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.American journal of human genetics · 2019Article
- Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al.European journal of human genetics : EJHG · 2018Article
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7 authors.
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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.