Search Results - "Robinson, Tiwanna M."

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    Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells by Fink, James J., Robinson, Tiwanna M., Germain, Noelle D., Sirois, Carissa L., Bolduc, Kaitlyn A., Ward, Amanda J., Rigo, Frank, Chamberlain, Stormy J., Levine, Eric S.

    Published in Nature communications (24-04-2017)
    “…Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay,…”
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    Journal Article
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    Dysfunctional sodium channel kinetics as a novel epilepsy mechanism in chromosome 15q11-q13 duplication syndrome by Elamin, Marwa, Lemtiri-Chlieh, Fouad, Robinson, Tiwanna M, Levine, Eric S

    Published in Epilepsia (Copenhagen) (01-09-2023)
    “…Duplication of the maternal chromosome 15q11.2-q13.1 region causes Dup15q syndrome, a highly penetrant neurodevelopmental disorder characterized by severe…”
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    The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons by Elamin, Marwa, Dumarchey, Aurelie, Stoddard, Christopher, Robinson, Tiwanna M., Cowie, Christopher, Gorka, Dea, Chamberlain, Stormy J., Levine, Eric S.

    Published in Stem cell reports (11-04-2023)
    “…Chromosome 15q11-q13 duplication syndrome (Dup15q) is a neurodevelopmental disorder caused by maternal duplications of this region. Autism and epilepsy are key…”
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    Journal Article
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