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Showing 1–3 of 3 results
Advanced filters: Author: "Manju Kurian" Clear advanced filters

  • Manju Kurian and colleagues report heterozygous variants in KMT2B in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance. Their findings highlight a clinically recognizable form of dystonia and demonstrate a crucial role for KMT2B in the physiological control of voluntary movement.

    • Esther Meyer
    • Keren J Carss
    • Manju A Kurian
    Research
    Nature Genetics
    Volume: 49, P: 223-237

  • The potassium-chloride co-transporter, KCC2 is an essential component in maintaining a gradient for chloride ions in neurons. Here Stodberg and colleagues identify loss-of-function mutations in the encoding geneSLC12A5, which impair normal synaptic function associated with early-onset epilepsy.

    • Tommy Stödberg
    • Amy McTague
    • Manju A. Kurian
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-9

  • Monoamine neurotransmitters are involved in many neurological functions, and defects in their synthesis, metabolism and transport leads to a variety of disorders with subtly different clinical manifestations that make them difficult to diagnose. The authors of this Review outline the clinical features, diagnosis and management of monoamine neurotransmitter disorders, and consider recent and future advances in knowledge and therapeutic options.

    • Joanne Ng
    • Apostolos Papandreou
    • Manju A. Kurian
    Reviews
    Nature Reviews Neurology
    Volume: 11, P: 567-584