ArticleIbrain2021
Genetic study of a Chinese pedigree with early onset Parkinson's disease caused by novel compound heterozygous mutations in
Article in Ibrain, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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
1 citing paper in PubMed, 2 citations in OpenAlex.
- A substrate-interacting region of Parkin directs ubiquitination of the mitochondrial GTPase Miro1.The Journal of cell biology · 2025Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: To explore the genetic basis for a Chinese pedigree where two siblings were affected with early-onset Parkinson's disease (EOPD). Methods: Clinical examinations and genomic analyses were performed on five subjects belonging to two generations of a Han Chinese family. Target regions capture and high throughput sequencing were used to screen these genes associated with Parkinson's disease (PD), tremor, spinocerebellar ataxia, and dystonia. The multiplex ligation dependent probe amplification (MLPA) method was applied to detect rearrangements and large deletion in Results: Two family members were diagnosed with PD by clinical manifestations. Compound heterozygous mutations, consisting of a fragment deletion in exon 2 and 3 of the Conclusion: A novel compound heterozygous deletion mutations of the
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