ArticleFrontiers in genetics2012
The use of next-generation sequencing in movement disorders.
Article in Frontiers in genetics, 2012. 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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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Screening Gene Mutations in Chinese Patients With Benign Essential Blepharospasm.Frontiers in neurology · 2019Article
- Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways.Molecular neurobiology · 2018Article
- Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.Molecular diagnosis & therapy · 2016Article
- SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.Human molecular genetics · 2015Article
- Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.Journal of neurology · 2014Article
- Psychiatric genetics, neurogenetics, and neurodegeneration.Frontiers in genetics · 2014Article
- The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.Journal of molecular medicine (Berlin, Germany) · 2013Article
- Mutations in γ adducin are associated with inherited cerebral palsy.Annals of neurology · 2013Article
- The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.Human mutation · 2013Article
- Advances in the genetics of Parkinson disease.Nature reviews. Neurology · 2013Review
- The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Current opinion in neurology · 2013Review
- Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.Human genetics · 2013Article
- Alzheimer's disease: analyzing the missing heritability.PloS one · 2013Article
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
New advances in genomic technology are being introduced at a greater speed and are revolutionizing the field of genetics for both complex and Mendelian diseases. For instance, during the past few years, genome-wide association studies (GWAS) have identified a large number of significant associations between genomic loci and movement disorders such as Parkinson's disease and progressive supranuclear palsy. GWAS are carried out through the use of high-throughput SNP genotyping arrays, which are also used to perform linkage analyses in families previously considered statistically underpowered for genetic analyses. In inherited movement disorders, using this latter technology, it has repeatedly been shown that mutations in a single gene can lead to different phenotypes, while the same clinical entity can be caused by mutations in different genes. This is being highlighted with the use of next-generation sequencing technologies and leads to the search for genes or genetic modifiers that contribute to the phenotypic expression of movement disorders. Establishing an accurate genome-epigenome-phenotype relationship is becoming a major challenge in the post-genomic research that should be facilitated through the implementation of both functional and cellular analyses.
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