Get started
Award

P50HD105351

Funded outputs count: 32
Funder award ID: P50HD105351
OpenAlex ID: G3830015915
PTPRS mediates invasion of tetanus neurotoxin into the central nervous system
2026 · Pengsheng Chen, Huan Wang, et al. · Cell
Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model
2026 · Sheryl Anne D. Vermudez, Mustafa Q. Hameed, et al. · Epilepsia
PDF
A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies
2026 · Jung-Wan Mok, Carrie L. Welch, et al. · The American Journal of Human Genetics · 2
PDF
EEG resting-state gamma power as a potential biomarker of excitation / inhibition imbalance in autism: Evidence from the Autism Biomarkers Consortium for Clinical Trials
2026 · Vardan Arutiunian, Catherine A. Sugar, et al. · European Neuropsychopharmacology · 1
Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome
2026 · Mehmet Bugrahan Duz, Amaia Lasa-Aranzasti, et al. · BMC Medical Genomics
Development of a human iPSC and patient phenotyping resource for preclinical investigations of neurodevelopmental disorders
2026 · Cidi Chen, Wardiya Afshar-Saber, et al. · Stem Cell Research
PDF
Short-term supercooling enables prolonged suspended animation of murine neonates
2026 · Irina Filz von Reiterdank, McLean S. Taggart, et al. · Scientific Reports
PDF
The kinetochore proteins Ndc80 and Dsn1 are required for survival of postmitotic neurons
2026 · Guoli Zhao, Feng Tian, et al. · bioRxiv (Cold Spring Harbor Laboratory)
PDF
High-frequency, high-intensity electrical stimulation selectively activates human fast-spiking interneurons
2026 · Jaeyoung Yoon, Ricardo Silva, et al. · Frontiers in Synaptic Neuroscience
PDF
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
2026 · Alba Sanchis-Juan, Yulia Mostovoy, et al. · medRxiv · 1
PDF
FMR1 gene therapy restores activity-driven inhibition and prevents audiogenic seizures in Fmr1 -/y mice
2026 · Beatriz Maio, Aditi Singh, et al. · bioRxiv (Cold Spring Harbor Laboratory)
PDF
Choroid plexus inflammation in bipolar disorder
2026 · Dario Figueroa Velez, Reza Rahimian, et al. · Brain Behavior and Immunity
Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility
2026 · Henry H.C. Lee, Gabrielle McGinty, et al. · bioRxiv (Cold Spring Harbor Laboratory)
PDF
FMR1 reduction alters cellular and circuit properties in human cortex
2026 · Aditi Singh, Saman Abbaspoor, et al. · bioRxiv (Cold Spring Harbor Laboratory)
PDF
Missense variants in TUBA4A cause myo-tubulinopathies
2026 · Mridul Johari, Chiara Folland, et al. · Brain · 3
Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex
2025 · Wendy Xiao Herman, Gillian N. Miller, et al. · Annals of the Child Neurology Society
Elevated synaptic PKA activity and abnormal striatal dopamine signaling in Akap11 mutant mice, a genetic model of schizophrenia and bipolar disorder
2025 · Bryan J. Song, Yang Ge, et al. · Nature Communications · 17
PDF
Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy
2025 · Morgan E Kim, Kathryn M Yammine, et al. · Human Molecular Genetics · 2
PDF
Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsy
2025 · Karenna J. Groff, Yini Liang, et al. · JCI Insight · 2
PDF
Muscle-specific increased expression of JAG1 improves the skeletal muscle phenotype in dystrophin-deficient mice
2025 · Felipe de Souza Leite, Matthias R. Lambert, et al. · Proceedings of the National Academy of Sciences · 2
Differential modification of ascending spinal outputs in acute and chronic pain states
2025 · David A. Yarmolinsky, Xiangsunze Zeng, et al. · Neuron · 24
Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons
2025 · Mayra Martinez-Sanchez, William Skarnes, et al. · Genes · 6
PDF
Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome
2025 · Zoë J. Frazier, Seyda Kilic, et al. · Clinical Genetics · 11
PDF
Systematic phenotype and genotype characterization of Moebius syndrome
2025 · Bryn D. Webb, Julie A. Jurgens, et al. · Genetics in Medicine Open · 2
PDF
Pre-mRNA splicing order is predetermined and maintains splicing fidelity across multi-intronic transcripts
2023 · Karine Choquet, Autum R. Baxter-Koenigs, et al. · Nature Structural & Molecular Biology · 40
PDF
Year
Topic