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Showing results for "Neuromuscular disorders "

An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder

Overall, we found that the regulatory variants in autism spectrum disorder cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

We report on the prevalence and trends of hypospadias which indicate that the prevalence of hypospadias continues to increase internationally

Season, terrestrial ultraviolet radiation, and markers of glucose metabolism in children living in Perth, Western Australia

Increased safe sun exposure in winter therefore represents a plausible means of reducing fasting blood sugar in children with obesity

Systematic Review of the Effects of Ultraviolet Radiation on Markers of Metabolic Dysfunction

Here we review the metabolic effects of exposure to ultraviolet radiation, focusing on the effects of phototherapies

Mitochondrial Gene Therapy

Aleksandra Filipovska BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of Excellence for

Wellcome Active Ingredients: Parenting Review

The aim of the current project is to explore view of youth with lived experiences and their caregiver on the role of parent/caregivers and family in the prevention and treatment of anxiety and depression in adolescents in low- and middle- income countries.

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Independent effects of socioeconomic status and place of residence on the incidence of type 1 diabetes in Western Australia

To analyze the incidence of type 1 diabetes in 0- to 14-year olds in Western Australia, from 1985 to 2002, by region and socioeconomic status.