About
Contact & Profiles
A5023762418
Research Areas
- Neurogenetic and Muscular Disorders Research
- RNA Interference and Gene Delivery
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Connective tissue disorders research
- Intestinal Malrotation and Obstruction Disorders
- Congenital gastrointestinal and neural anomalies
Harry Perkins Institute of Medical Research
2015-2018
The University of Western Australia
2015-2018
10.1016/j.ajhg.2015.04.014
article
EN
publisher-specific-oa
The American Journal of Human Genetics
2015-05-21
Abstract Background Primary chronic intestinal pseudo‐obstruction (CIPO) is a rare, potentially life‐threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution ACTG 2 , LMOD 1 MYH 11, and MYLK mutations in an Australasian cohort patients with diagnosis primary CIPO associated visceral myopathy. Methods Pediatric adult suspected myopathy were recruited from across Australia New Zealand. Sanger sequencing genes...
10.1111/nmo.13371
article
EN
Neurogastroenterology & Motility
2018-05-21
10.1016/j.nmd.2015.06.013
article
EN
Neuromuscular Disorders
2015-09-10
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