ArticleEuropean journal of neurology2013
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.
Article in European journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Compound Heterozygous Mutations ofInternational journal of molecular sciences · 2024Article
- Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.Cerebellum (London, England) · 2023Article
- Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.International journal of molecular sciences · 2022Review
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.Journal of molecular neuroscience : MN · 2020Review
- Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.Journal of human genetics · 2018Article
- Network-based association analysis to infer new disease-gene relationships using large-scale protein interactions.PloS one · 2018Article
- Multiple analyses indicate the specific association of NR1I3, C6 and TNN with low hip BMD risk.Journal of genetics and genomics = Yi chuan xue bao · 2017Article
- SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.Neuro-degenerative diseases · 2017Article
- Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.Mayo Clinic proceedings · 2015Article
- Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.Scientific reports · 2014Article
- ELOVL5 mutations cause spinocerebellar ataxia 38.American journal of human genetics · 2014Article
- Genes and genetic testing in hereditary ataxias.Genes · 2014Article
- Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.BMC medical genetics · 2014Article
- Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.PloS one · 2014Article
- Article
- Exome sequencing as a diagnostic tool for pediatric-onset ataxia.Human mutation · 2014Article
- Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective.Human genetics · 2013Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 4 countries.
Funding
Abstract
background and purposeAutosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA.
methodsTo determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing.
resultsWe identified a new mutation in the SACS gene and a known mutation in SPG11. Notably, we also identified a homozygous variant in APOB, a gene previously associated with ataxia.
conclusionsThese findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early-stage disease or cases with limited clinical data.
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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.