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Showing results for "Neuromuscular disorders "
Passing is a contentious issue within the trans community. Some trans people strive to pass as cisgender as an inherent goal or to reduce dysphoria, enhance safety, and potentially to facilitate acceptance. Others argue that trans people should not need to pass and that expectations to do so can cause harm to the trans community. This review aimed to systematically source and synthesize the existing qualitative literature that explores the costs and benefits of passing for trans people.
Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown.
With the help of clinicians and families who have children with Rett syndrome, our research aims to improve understanding of Rett syndrome.
We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.
Here’s a quick look at some of the published research to come out of CliniKids recently (June 2021 newsletter)
Professor Ashleigh Lin was nominated for the Mid-Career Scientist of the Year.
This study is exploring what role maternal inflammation during pregnancy plays in 'programming' adverse child health outcomes.
Can baby’s early movements predict learning difficulties later in childhood?
Mental health concerns in youth are important in their own right. However, they can be even more troubling when your child is dealing with other health conditions.
The mitochondrial genome encodes core subunits of the respiratory chain that drives oxidative phosphorylation and is, therefore, essential for energy conversion. Advances in high-throughput sequencing technologies and cryoelectron microscopy have shed light on the structure and organization of the mitochondrial genome and revealed unique mechanisms of mitochondrial gene regulation.