Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"Dopamine transporter deficiency syndrome"”.
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Molecular genetic investigation of autosomal recessive neurodevelopmental disorders
… of three autosomal recessive neurological syndromes. I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a novel homozygous pathogenic mutation of PLCB1. I have also utilised autozygosity mapping techniques to study consanguineous families …
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Pharmacological Chaperones of the Dopamine Transporter: A Strategy for Increasing Function of Wild Type and Mutant Transporter
The dopamine transporter (DAT) is a membrane protein that is essential for regulating signaling and intracellular stores of the neurotransmitter dopamine. An array of pathological conditions have been linked to mutations in the dopamine transporter gene, including ADHD, bipolar disorder, autism, …