ReviewNeurogenetics2021
Milestones in genetics of cerebellar ataxias.
Review in Neurogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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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.
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Who cites it
13 citing papers in PubMed, 36 citations in OpenAlex.
- Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family.Molecular genetics & genomic medicine · 2026Article
- Long-term benefits of TUDCA supplement in ARSACS zebrafish model.Scientific reports · 2025Article
- FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.Annals of clinical and translational neurology · 2025Article
- 7T magnetic resonance imaging-based investigation of the correlation between mammillary body structure and cognitive impairment in patients with spinocerebellar ataxia type 3.Psychoradiology · 2025Article
- How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.Journal of neurology · 2024Article
- Neuroradiological findings in GAA-medRxiv : the preprint server for health sciences · 2024Article
- Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).Neurology. Genetics · 2024Article
- Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.Emerging topics in life sciences · 2023Article
- ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.Genome medicine · 2023Article
- Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.Scientific reports · 2023Article
- Deep IntronicThe New England journal of medicine · 2023Article
- A NovelFrontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebellar ataxias (CAs) comprise a group of rare, neurological disorders characterized by extensive phenotypic and genetic heterogeneity. The core clinical feature is the cerebellar syndrome, which is often accompanied by other neurological or non-neurological signs. In the last 30 years, our understanding of the CA etiology has increased significantly, and numerous ataxia-associated genes have been discovered. Conventional variants or tandem repeat expansions, localized in the coding or non-coding DNA sequences, lead to hereditary ataxia, which can display different patterns of inheritance. Advances in molecular techniques have enabled a rapid and cost-effective detection of causative variants in a significant number of CA patients. However, despite performing extensive investigations, a definite diagnosis is still unknown in the majority of affected individuals. In this review, we discuss the major advances in the genetics of CAs over the last 30 years, focusing on the impact of next-generation sequencing on the genetic landscape of childhood- and adult-onset CAs. Additionally, we outline possible directions for further genetic research in hereditary and sporadic CAs in the era of increasing application of whole-genome sequencing and genome-wide association studies in various neurological disorders.
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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.