Neurodevelopmental disorders-high-resolution rethinking of disease modeling
10.1038/s41380-022-01876-1 · 2023
Neurodevelopmental Disorders: From Genetics to Functional Pathways
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Operative list of genes associated with autism and neurodevelopmental disorders based on database review
10.1016/j.mcn.2021.103623 · 2021
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial
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Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial
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Risperidone: a review of its use in the treatment of irritability associated with autistic disorder in children and adolescents
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Aripiprazole for irritability associated with autistic disorder in children and adolescents aged 6-17 years
10.2217/phe.10.45 · 2010
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder
10.1038/s41591-024-03197-y · 2024
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
10.1056/nejmoa1813279 · 2019
The N=1 Collaborative: advancing customized nucleic acid therapies through collaboration and data sharing
10.1093/nar/gkaf346 · 2025
Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease
10.1056/nejmoa2504747 · 2025
FDA's New Plausible Mechanism Pathway
10.1056/nejmsb2512695 · 2025
Drug Regulation in the Era of Individualized Therapies
10.1056/nejme1911295 · 2019
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases
10.1038/s41467-024-54077-5 · 2024
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
10.1016/j.ajhg.2025.02.017 · 2025
Open carbon nanopipettes as resistive-pulse sensors, rectification sensors, and electrochemical nanoprobes
10.1021/ac5022908 · 2014
Analysis of exocytotic events recorded by amperometry
10.1038/nmeth782 · 2005
Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides
10.1089/nat.2022.0060 · 2023
Differentiation of Human Induced Pluripotent Stem Cells (iPSCs) into an Effective Model of Forebrain Neural Progenitor Cells and Mature Neurons
10.21769/bioprotoc.3188 · 2019
An Optimized Protocol for the Generation of Midbrain Dopamine Neurons under Defined Conditions
10.1016/j.xpro.2020.100065 · 2020
Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids
10.1038/s41467-023-39420-6 · 2023
Micro-electrode array recordings reveal reductions in both excitation and inhibition in cultured cortical neuron networks lacking Shank3
10.1038/mp.2015.173 · 2016
Deficits in integrative NMDA receptors caused by Grin1 disruption can be rescued in adulthood
10.1038/s41386-023-01619-y · 2023
Purkinje-cell-restricted restoration of Kv3.3 function restores complex spikes and rescues motor coordination in Kcnc3 mutants
10.1523/jneurosci.5486-07.2008 · 2008
SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs
10.1038/s41401-022-00955-x · 2022
Correlation between evoked neurotransmitter release and adaptive functions in SYT1-associated neurodevelopmental disorder
10.1016/j.ebiom.2024.105416 · 2024
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
10.1016/j.ajhg.2019.02.016 · 2019
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
10.1136/jmg.2004.028464 · 2005
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
10.1016/j.ajhg.2024.06.008 · 2024
Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises
10.1093/hmg/ddr336 · 2011
Evaluation of animal models of neurobehavioral disorders
10.1186/1744-9081-5-11 · 2009
Rapid and scalable personalized ASO screening in patient-derived organoids
10.1038/s41586-024-08462-1 · 2025
A scalable and equitable framework for target and patient prioritisation in rare disease antisense therapeutics
2026
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
10.1038/s41525-025-00474-8 · 2025
Overcoming the Variability of iPSCs in the Manufacturing of Cell-Based Therapies
10.3390/ijms242316929 · 2023
Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders
10.1038/s12276-024-01292-1 · 2024
