by editor | Apr 6, 2026 | Publications
Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases. Resch D, Alecu JE, Yang K, Quiroz V, Schierbaum L, Bernardi K, Zaman Z, Agianda HAP, Rong J, Battaglia N, Carty S, Tam A, Kieslich M, Santorelli FM, González-Salazar C,...
by editor | Mar 6, 2026 | Publications
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder. Sudnawa KK, Geltzeiler A, Kanner CH, Zreibe K, Pini N, Tam C, Fee RJ, Calamia S, Callejo E, Sharples H,...
by editor | Feb 6, 2026 | Publications
Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study. Brandon Bravo Bruinsma PJ, Hadjinicolaou A, Rajaraman RR, Hussain SA, Krueger DA, Sahin M, Northrup H,...
by editor | Dec 17, 2025 | Publications
ap4b1 -/zebrafish demonstrate morphological and motor abnormalities. Hum Mol Genet. Ebrahimi-Fakhari Lab. Limited transmission of mixed convergent signals at the mouse retinogeniculate synapse. Neuron. Chen Lab. Structural and functional basis of mechanosensitive...
by editor | Jun 9, 2025 | Publications
Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders. Front Neuroscience. Human Neuron Core. Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT...
by editor | Dec 9, 2024 | Publications
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. Engle Lab. Identification of novel neuroprotectants against vincristine-induced neurotoxicity in iPSC-derived neurons. Cell Mol Life Sci. Woolf Lab. Dopamine biases...
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