# Finding <i>twinkle</i> in the eyes of a 71‐year‐old lady: A case report and review of the genotypic and phenotypic spectrum of <i>TWINKLE</i>‐related dominant disease

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/finding-i-twinkle-i-in-the-eyes-of-a-71-year-old-lady-a-case-report-and-review/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Johan L.K. Van Hove,Vicki Cunningham,C. Rice,Steven P. Ringel,Qing Zhang,Ping Chieh Chou,Cavatina K. Truong,L. Wong |
| Citations | 57 |
| DOI | 10.1002/ajmg.a.32731 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2001246914 |
| PMID | 19353676 |
| Type | article |
| Year | 2009 |

## Paper authors

- [L. Wong](https://scholariq.org/researchers/l-wong/)

## Paper journal

- [American Journal of Medical Genetics Part A](https://scholariq.org/journals/american-journal-of-medical-genetics-part-a/)

## Paper primary topic

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)

## Paper topics

- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [ATP Synthase and ATPases Research](https://scholariq.org/topics/atp-synthase-and-atpases-research/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.