ReviewCurrent neurology and neuroscience reports2012
Recent advances in the genetics of cerebellar ataxias.
Review in Current neurology and neuroscience reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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.
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Who cites it
42 citing papers in PubMed, 82 citations in OpenAlex.
- Machine Learning-Based Classification of Gliomas and Tumor Grades with SHAP-Guided Feature Interpretation.Genes · 2026Article
- 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
- Access to specialist ataxia centres in Europe: cross-sectional surveys in the United Kingdom, Italy, and Germany.Frontiers in health services · 2026Article
- Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.Human genome variation · 2024Article
- Genetic Deletion of Thorase Causes Purkinje Cell Loss and Impaired Motor Coordination Behavior.Cells · 2023Article
- Noted Tension Headache, Anxiety, and Depression in a Chinese Patient with Spinocerebellar Ataxia, Autosomal Recessive 10 Caused by a Novel Anoctamin 10 Mutation.Journal of translational internal medicine · 2022Article
- Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.Journal of clinical laboratory analysis · 2022Article
- Reframing Psychiatry for Precision Medicine.Journal of personalized medicine · 2020Article
- Novel MissenseInternational journal of molecular sciences · 2020Article
- Inter-Regulation of KInternational journal of molecular sciences · 2020Article
- Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias?Cerebellum & ataxias · 2020Article
- Transient Potassium Channels: Therapeutic Targets for Brain Disorders.Frontiers in cellular neuroscience · 2019Review
- Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias.Journal of genetics · 2018Article
- Genetic contributions to self-reported tiredness.Molecular psychiatry · 2018Article
- Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.Neurology. Genetics · 2018Article
- SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Article
- Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review.JAMA neurology · 2016Review
- Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.BMC neurology · 2016Article
- Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.Journal of neurology · 2016Article
- Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.European journal of human genetics : EJHG · 2016Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The hereditary cerebellar ataxias are a clinically and genetically heterogeneous group of disorders that primarily affect the cerebellum; often there are additional features such as neuropathy, cognitive decline, or maculopathy that help define the clinical subtype of ataxia. They are commonly classified according to their mode of inheritance into autosomal dominant, autosomal recessive, X-linked, and mitochondrial forms. Great advances have been made in understanding the genetics of cerebellar ataxias in the last 15 years. At least 36 different forms of ADCA are known, 20 autosomal-recessive, two X-linked, and several forms of ataxia associated with mitochondrial defects are known to date. However, in about 40 % of suspected genetically determined ataxia cases, the underlying genetic defect remains undetermined. Although the majority of disease genes have been found in the last two decades, over the last 2 years the genetics has undergone a methodological revolution. New DNA sequencing technologies are enabling us to investigate the whole or large targeted proportions of the genome in a rapid, affordable, and comprehensive way. Exome and targeted sequencing has recently identified four new genes causing ataxia: TGM6, ANO10, SYT14, and rundataxin. This approach is likely to continue to discover new ataxia genes and make screening of existing genes more effective. Translating the genetic findings into isolated and overlapping disease pathways will help stratify patient groups and identify therapeutic targets for ataxia that have so far remained undiscovered.
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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.