Search Results - "Robinson, Tiwanna M."
-
1
Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells
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,…”
Get full text
Journal Article -
2
Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1
Published in Molecular autism (20-08-2014)“…Duplications of the chromosome 15q11-q13.1 region are associated with an estimated 1 to 3% of all autism cases, making this copy number variation (CNV) one of…”
Get full text
Journal Article -
3
Dysfunctional sodium channel kinetics as a novel epilepsy mechanism in chromosome 15q11-q13 duplication syndrome
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…”
Get full text
Journal Article -
4
Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell–Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism
Published in Biological psychiatry (1969) (01-12-2021)“…Chromosome 15q11-q13 duplication syndrome (Dup15q) is a neurogenetic disorder caused by duplications of the maternal copy of this region. In addition to…”
Get full text
Journal Article -
5
The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons
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…”
Get full text
Journal Article -
6
Hyperexcitable phenotypes in iPSC-derived neurons from patients with 15q11-q13 duplication syndrome, a genetic form of autism
Published in Biological psychiatry (1969) (26-07-2021)Get full text
Journal Article