All Stories

  1. Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders
  2. A Hybrid 2D‐to‐3D in vitro Differentiation Platform Improves Outcomes of Cerebral Cortical Organoid Generation in hiPSCs
  3. Drug Resistant Epilepsy in Tuberous Sclerosis Complex is Associated with TSC2 Genotype: More Findings from the PREVeNT Trial
  4. AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient
  5. Human TSC2 Mutant Cells Exhibit Aberrations in Early Neurodevelopment Accompanied by Changes in the DNA Methylome
  6. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
  7. The role of TSC1 and TSC2 proteins in neuronal axons
  8. A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop
  9. Rescue of Impaired Blood-Brain Barrier in Tuberous Sclerosis Complex Patient Derived Neurovascular Unit
  10. Non-canonical functions of a mutant TSC2 protein in mitotic division
  11. Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial
  12. Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex
  13. Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies
  14. Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
  15. Non-Canonical Functions of a Mutant TSC2 Protein in Mitotic Division
  16. GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy
  17. Tubers affecting the fusiform face area are associated with autism diagnosis
  18. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
  19. Direct-to-Consumer Recruitment Methods for Clinical Trials for Rare Diseases: A Novel Approach for Testing the Application of Targeted Social Media Messaging to Aid in Accrual Into Research Studies (Preprint)
  20. Direct-to-Consumer Recruitment Methods for Clinical Trials for Rare Diseases: A Novel Approach for Testing the Application of Targeted Social Media Messaging to Aid in Accrual Into Research Studies (Preprint)
  21. Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis
  22. AP-4-mediated axonal transport controls endocannabinoid production in neurons
  23. Single-cell dissection of the human brain vasculature
  24. Convergent Cerebrospinal Fluid Proteomes and Metabolic Ontologies in Humans and Animal Models of Rett Syndrome
  25. Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels
  26. Enhanced prime editing systems by manipulating cellular determinants of editing outcomes
  27. Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex
  28. Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder
  29. Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts
  30. Factors influencing the acute pentylenetetrazole‐induced seizure paradigm and a literature review
  31. Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders
  32. 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro
  33. Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)
  34. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)
  35. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
  36. Single-cell dissection of the human cerebrovasculature in health and disease
  37. Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts
  38. A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations
  39. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations
  40. Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress
  41. Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism
  42. Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network
  43. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
  44. Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort
  45. Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
  46. A Cell-Based Assay Optimized for High-Content Cilia Imaging with Primary Rat Hippocampal Neurons
  47. Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex
  48. Editorial: Biomarkers to Enable Therapeutics Development in Neurodevelopmental Disorders
  49. Tuberous sclerosis: a review of the past, present, and future
  50. The Impact of COVID-19 on Individuals With Intellectual and Developmental Disabilities: Clinical and Scientific Priorities
  51. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
  52. Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile
  53. Polymicrogyria is Associated With Pathogenic Variants in PTEN
  54. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
  55. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
  56. Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex
  57. Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
  58. Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia
  59. Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome
  60. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy
  61. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome
  62. Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study
  63. Tau: A Novel Entry Point for mTOR-Based Treatments in Autism Spectrum Disorder?
  64. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex
  65. Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex
  66. Learning to Detect Brain Lesions from Noisy Annotations
  67. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5
  68. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
  69. A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment
  70. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort
  71. Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex
  72. Beliefs in vaccine as causes of autism among SPARK cohort caregivers
  73. Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex
  74. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
  75. Lesion-Constrained Electrical Source Imaging
  76. Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons
  77. The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex
  78. EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex
  79. Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder
  80. Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study
  81. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN
  82. Biallelic mutations in TSC2 lead to abnormalities associated with cortical tubers in human iPSC-derived neurons
  83. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)
  84. A framework for the investigation of rare genetic disorders in neuropsychiatry
  85. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
  86. Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex
  87. Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study
  88. Resting‐State fMRI Networks in Children with Tuberous Sclerosis Complex
  89. Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex
  90. The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex
  91. White matter mean diffusivity correlates with myelination in tuberous sclerosis complex
  92. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
  93. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice
  94. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
  95. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex
  96. Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration.
  97. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype
  98. Probing Mechanical Properties of Brain in a Tuberous Sclerosis Model of Autism
  99. Translational Medicine Strategies in Drug Development for Neurodevelopmental Disorders
  100. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome
  101. Discovering translational biomarkers in neurodevelopmental disorders
  102. Electrographic spikes are common in wildtype mice
  103. High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex
  104. Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition
  105. Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms
  106. Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex
  107. Longitudinal effects of everolimus on white matter diffusion in Tuberous Sclerosis Complex
  108. Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors
  109. The mouse as a model for neuropsychiatric drug development
  110. The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders
  111. A Unified Circuit for Social Behavior
  112. Abnormal mTOR Activation in Autism
  113. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy
  114. Recurrence quantification analysis of resting state EEG signals in autism spectrum disorder – a systematic methodological exploration of technical and demographic confounders in the search for biomarkers
  115. Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram
  116. Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome
  117. Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex
  118. mTOR’ing across the Cortex by Chopping the Cilia
  119. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy
  120. Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex
  121. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex
  122. A mouse model of DEPDC5 -related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility
  123. Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin
  124. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
  125. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome
  126. mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex
  127. Clinical and genetic characterization of AP4B1 -associated SPG47
  128. Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex
  129. Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders
  130. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants
  131. Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex
  132. Early autism symptoms in infants with tuberous sclerosis complex
  133. Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy
  134. Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine
  135. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions
  136. Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism
  137. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective
  138. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant
  139. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis
  140. Influence of seizures on early development in tuberous sclerosis complex
  141. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose
  142. Translational use of event-related potentials to assess circuit integrity in ASD
  143. Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex
  144. Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons
  145. Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex
  146. Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge-Weber Syndrome
  147. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex
  148. The Pediatric Neurology Trainee Publication Award for 2015
  149. Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A
  150. Characterizing Multiscale Mechanical Properties of Brain Tissue Using Atomic Force Microscopy, Impact Indentation, and Rheometry
  151. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex
  152. Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers
  153. Direct current stimulation induces mGluR5-dependent neocortical plasticity
  154. White and gray matter fiber pathways in autism spectrum disorder revealed by ex vivo diffusion MR tractography
  155. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research
  156. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings
  157. Editorial: Essential Pathways and Circuits of Autism Pathogenesis
  158. Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations from the 2015 Strategic Planning Conference
  159. Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy
  160. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome
  161. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
  162. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants
  163. Neurological Comorbidities in Autism Spectrum Disorder
  164. Essential Pathways and Circuits of Autism Pathogenesis
  165. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
  166. Disorders of Microtubule Function in Neurons: Imaging Correlates
  167. Super-resolution reconstruction in frequency, image, and wavelet domains to reduce through-plane partial voluming in MRI
  168. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
  169. Adopting Rare Diseases
  170. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders
  171. Tubers are neither static nor discrete
  172. Characterizing brain tissue by assessment of the distribution of anisotropic microstructural environments in diffusion-compartment imaging (DIAMOND)
  173. TSC2 controls neuronal development through FOXO1 and mitochondrial function in Autism Spectrum Disorders patient derived human neurons
  174. Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex
  175. Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams
  176. The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex
  177. Developing therapies for spinal muscular atrophy
  178. Cerebellar associative sensory learning defects in five mouse autism models
  179. Therapeutic Advances in Autism and Other Neurodevelopmental Disorders
  180. Tuberous Sclerosis Complex
  181. Longitudinal Changes in Diffusion Properties in White Matter Pathways of Children With Tuberous Sclerosis Complex
  182. Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex
  183. Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism
  184. The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation
  185. Autism and the synapse
  186. Vigabatrin can enhance electroretinographic responses in pigmented and albino rats
  187. Altered Structural Brain Networks in Tuberous Sclerosis Complex
  188. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist
  189. Genetics of neurocutaneous disorders
  190. A Vascular Model of Tsc1 Deficiency Accelerates Renal Tumor Formation with Accompanying Hemangiosarcomas
  191. Gene Therapy for Childhood Neurological Disease
  192. The Neurology of mTOR
  193. Parkinson's disease: A disorder of axonal mitophagy?
  194. Somatic Mutations in Cerebral Cortical Malformations
  195. SMN regulates axonal local translation via miR-183/mTOR pathway
  196. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex
  197. Copy number variation plays an important role in clinical epilepsy
  198. RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity
  199. Mechanism-Based Treatment in Tuberous Sclerosis Complex
  200. Trust but Verify: The Introduction of Plagiarism Detection Software
  201. EphA7 signaling guides cortical dendritic development and spine maturation
  202. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1
  203. A Mathematical Framework for the Registration and Analysis of Multi-Fascicle Models for Population Studies of the Brain Microstructure
  204. Autism Spectrum Disorders in Tuberous Sclerosis
  205. Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis
  206. Both Maternal and Pup Genotype Influence Ultrasonic Vocalizations and Early Developmental Milestones inTsc2+/−Mice
  207. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
  208. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
  209. Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions
  210. A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS
  211. The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models
  212. SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy
  213. Pediatric Neurocritical Care: A Neurology Consultation Model and Implication for Education and Training
  214. Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity
  215. A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex
  216. Fragile X Syndrome Therapeutics: Translation, Meet Translational Medicine
  217. Characterizing the DIstribution of Anisotropic MicrO-structural eNvironments with Diffusion-Weighted Imaging (DIAMOND)
  218. Prenatal Rapamycin Results in Early and Late Behavioral Abnormalities in Wildtype C57Bl/6 Mice
  219. Atypical Face Processing in Children With Tuberous Sclerosis Complex
  220. Targeted treatment trials for tuberous sclerosis and autism: no longer a dream
  221. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
  222. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features
  223. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
  224. Impaired Language Pathways in Tuberous Sclerosis Complex Patients with Autism Spectrum Disorders
  225. Endothelial cell-fatty acid binding protein 4 promotes angiogenesis: role of stem cell factor/c-kit pathway
  226. Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
  227. Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
  228. Correction for Alexander et al., ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS
  229. Erratum: Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice
  230. Micro-duplications of 1q32.1 associated with neurodevelopmental delay
  231. Loss of White Matter Microstructural Integrity Is Associated with Adverse Neurological Outcome in Tuberous Sclerosis Complex
  232. Translational research
  233. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex
  234. Febrile infection-related epilepsy syndrome (FIRES): Does duration of anesthesia affect outcome?
  235. A Genetic Model to Dissect the Role of Tsc-mTORC1 in Neuronal Cultures
  236. NMDA Mediated Contextual Conditioning Changes miRNA Expression
  237. Pediatric epileptology
  238. Febrile infection-related epilepsy syndrome (FIRES): Pathogenesis, treatment, and outcome
  239. Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex
  240. TSC1/TSC2 signaling in the CNS
  241. SMN Deficiency Reduces Cellular Ability to Form Stress Granules, Sensitizing Cells to Stress
  242. Neurocutaneous Syndromes
  243. MicroRNA Profiling Reveals Two Distinct p53-Related Human Pluripotent Stem Cell States
  244. Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice
  245. EphB-Mediated Degradation of the RhoA GEF Ephexin5 Relieves a Developmental Brake on Excitatory Synapse Formation
  246. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis
  247. Eph receptor and mTOR pathway crosstalk: Implications for cancer
  248. ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS
  249. Diffusion Features of White Matter in Tuberous Sclerosis With Tractography
  250. Tsc2-Rheb signaling regulates EphA-mediated axon guidance
  251. Maximum A Posteriori Estimation of Isotropic High-Resolution Volumetric MRI from Orthogonal Thick-Slice Scans
  252. Murine Glut-1 transporter haploinsufficiency: Postnatal deceleration of brain weight and reactive astrocytosis
  253. Tuberous Sclerosis Complex Activity Is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner
  254. Cardiac Rhabdomyomas in Tuberous Sclerosis Complex Show Apoptosis Regulation and mTOR Pathway Abnormalities
  255. Cardiac rhabdomyoma in tuberous sclerosis: Hyperactive Erk signaling
  256. Promoting Axon Regeneration in the Adult CNS by Modulation of the PTEN/mTOR Pathway
  257. Tuberous sclerosis complex proteins control axon formation
  258. Human CHN1 Mutations Hyperactivate  2-Chimaerin and Cause Duane's Retraction Syndrome
  259. Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function
  260. Loss of the Tuberous Sclerosis Complex Tumor Suppressors Triggers the Unfolded Protein Response to Regulate Insulin Signaling and Apoptosis
  261. Characterization of Autism in Young Children With Tuberous Sclerosis Complex
  262. Clinical Presentation and Diagnosis of Tuberous Sclerosis Complex in Infancy
  263. A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited Survival
  264. Tuberous Sclerosis Complex and Epilepsy: Recent Developments and Future Challenges
  265. Neonatal Subependymal Giant Cell Astrocytoma: New Case and Review of Literature
  266. Cdk5 regulates EphA4-mediated dendritic spine retraction through an ephexin1-dependent mechanism
  267. S6K1 Regulates GSK3 under Conditions of mTOR-Dependent Feedback Inhibition of Akt
  268. Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities
  269. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia
  270. Regulation of EphA4 Kinase Activity Is Required for a Subset of Axon Guidance Decisions Suggesting a Key Role for Receptor Clustering in Eph Function
  271. Eph-Dependent Tyrosine Phosphorylation of Ephexin1 Modulates Growth Cone Collapse
  272. Vav Family GEFs Link Activated Ephs to Endocytosis and Axon Guidance
  273. Focal seizure and cerebral contrast retention after cardiac catheterization
  274. Prolonged treatment for acute symptomatic refractory status epilepticus
  275. Outcome of Severe Refractory Status Epilepticus in Children
  276. EphA Receptors Regulate Growth Cone Dynamics through the Novel Guanine Nucleotide Exchange Factor Ephexin
  277. Prolonged Treatment of Refractory Status Epilepticus in a Child
  278. Prolonged Treatment of Refractory Status Epilepticus in a Child
  279. Antiepileptic drug-induced visual hallucinations in a child
  280. Hydrocephalus associated with glycogen storage disease type II (pompe’s disease)
  281. Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment.
  282. Seven protein tyrosine phosphatases are differentially expressed in the developing rat brain
  283. Location of nicotinic and muscarinic cholinergic and μ-opiate receptors in rat cerebral neocortex: evidence from thalamic and cortical lesions
  284. Molecular identification of the lugaro cell in the cat cerebellar cortex