ArticleNeurobiology of aging2015
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
Article in Neurobiology of aging, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- The Role of DNA Methylation and Histone Modifications in Neurodegenerative Diseases: A Systematic Review.PloS one · 2016Pooled it
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- IsmedRxiv : the preprint server for health sciences · 2026Article
- Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.Alzheimer's research & therapy · 2025Article
- Identification of Parkinson's disease using MRI and genetic data from the PPMI cohort: an improved machine learning fusion approach.Frontiers in aging neuroscience · 2025Article
- Emerging Role of ABC Transporters in Glia Cells in Health and Diseases of the Central Nervous System.Cells · 2024Review
- Analysis of rare Parkinson's disease variants in millions of people.NPJ Parkinson's disease · 2024Article
- A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.Biomedicines · 2023Article
- Identification of potential susceptibility genes in patients with primary Sjögren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing.Arthritis research & therapy · 2023Article
- Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.NPJ Parkinson's disease · 2023Article
- Axial Impairment Following Deep Brain Stimulation in Parkinson's Disease: A Surgicogenomic Approach.Journal of Parkinson's disease · 2022Article
- Individual Oligogenic Background in p.D91A-Genes · 2021Article
- The most prevalent rare coding variants of TREM2 conferring risk of Alzheimer's disease: A systematic review and meta-analysis.Experimental and therapeutic medicine · 2021Article
- Neuropathologic description ofNeurology. Genetics · 2020Article
- Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.Brain : a journal of neurology · 2019Article
- A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.Frontiers in neuroscience · 2019Article
- An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk.Neurobiology of aging · 2018Article
- NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.Neurobiology of aging · 2017Article
- Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.Scientific reports · 2017Article
- Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.Neurobiology of aging · 2017Article
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 5 countries.
Funding
Abstract
Genetic analyses of patients with neurodegenerative disorders have identified multiple genes that need to be investigated for the presence of damaging variants. However, mutation analysis by Sanger sequencing is costly and time consuming. We tested the utility of a recently designed semi-custom genome-wide array (NeuroX; Illumina, Inc) tailored to study neurodegenerative diseases (e.g., mutation screening). We investigated 192 patients with 4 different neurodegenerative disorders for the presence of rare damaging variations in 77 genes implicated in these diseases. Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M233T responsible for Alzheimer's disease in a large Italian family, as well as SOD1 p.A4V and p.I113T in patients with amyotrophic lateral sclerosis. In total, we identified 78 potentially damaging rare variants (frequency <1%), including ABCA7 p.L400V in a family with Alzheimer's disease and LRRK2 p.R1514Q in 6 of 98 patients with Parkinson's disease (6.1%). In conclusion, NeuroX appears to be helpful for rapid and accurate mutation screening, although further development may be still required to improve some current caveats.
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Registered trials
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