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Showing results for "Neuromuscular disorders "

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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this…

Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

Attention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome

Heavy maternal alcohol consumption and cerebral palsy in the offspring

The aim of this study was to investigate the association between heavy maternal alcohol consumption and pre- peri- and postneonatally acquired cerebr…

Pregnancy outcomes of mothers with an alcohol-related diagnosis: A population-based cohort study for the period 1983-2007

Infants of mothers with an alcohol-related diagnosis [International Classification of Disease (ICD), 9th/10th revisions] recorded on WA health data s…

Discrete alterations of brain network structural covariance in individuals at ultra-high risk for psychosis.

The aim of the present study was to investigate whole-brain structural covariance patterns of eight large-scale networks in young people identified a…

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility.