[Optimisation of psychopharmacological treatment strategies by using therapeutic drug monitoring].

Identification of common genetic and molecular signatures in migraine and comorbid conditions.

Monitoring the Progression of Pre-Ataxic Gait in SCA2 with Inertial Sensors Over Four Years.

Diagnostic Clues and Pitfalls in Pontocerebellar Hypoplasia Type 2A.

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.

TEM-based Study of the Phenotype of Astrocytes Differentiated from Induced Pluripotent Stem Cells from a Healthy Donor and a Patient with Parkinson's Disease.

Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity.

Riluzole Restores Circuit and Behavioral Function Altered by Allele-Specific Expression-Mediated LINC02449-CPLX1 Dysregulation.

Robo2-Nrxn3 Deficiency: A Molecular Hub Linking Excitation-Inhibition Imbalance to the Pathogenesis of Schizophrenia.

Normative age-related structural brain deviations underlying psychopathology, cognitive impairment and neurological soft signs in schizophrenia spectrum disorders.

Neuroanatomical signatures of suicide attempts in major depressive disorder.

Interval Timing Is Altered in Male Nrxn1+/- Mice: A Model of Autism Spectrum Disorder.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

White matter microstructure differences between 15q11.2 copy number variation carriers and non-carriers in mid-to-late life.

Genetic landscape and phenotypic correlations of lissencephaly: prenatal and postnatal insights.

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.

Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.

Chiari II brain malformation is secondary to open spina bifida.

Clinical and genetic characterization of intellectual disability.

The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity.

A Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

Neurotrophic Modulation Restores Motor and Developmental Defects in Zebrafish Models of ints11 Deficiency.

Causal neurodevelopmental origins of scoliosis: Multi-omics Mendelian randomization reveals brain-region-specific pathways and protein mediators.

The 9th International RASopathies Symposium.

High-Molecular-Weight Pectin Alleviates Fiber-Free High-Fat Diet-Induced Obesity by Regulating the Colonic Microenvironment and Spatial Microbiota Distribution.

Uncovering Hidden Phenotypes in NEX-Cre Mice: Behavioral and Cellular Alterations Demand Re-Evaluation of a Widely Used Transgenic Line.

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Deleterious NKAP Mutations Are Associated with Musculoskeletal Abnormalities in Hemizygous Males and Skewed X Chromosome Inactivation in Heterozygous Females.

Molecular Pathways and Circulating Biomarkers in Cerebral Cavernous Malformations-A Systematic Review.

Brain volumes in fetuses with congenital heart disease and placental vascular abnormalities.

High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.

Identification of a novel CLCN2 homozygous variant in a man with leukoencephalopathy and infertility: a case report and literature review.

Proteostasis failure and mitochondrial dysfunction contribute to chromosomal instability-induced microcephaly.

Tuberous sclerosis complex.

Surgical treatment of Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep associated with polymicrogyria: A case report.

RIP1 Exacerbates BBB Disruption by Impairing Autophagy-Mediated A2 Astrocyte Polarization in Hypertension-Induced Cerebral Microhemorrhage in Mice.

The people behind the papers - Alexander Phillips and David Keays.

A cross-sectional observational study: assessment of cardiovascular damage in mucopolysaccharidoses mutation carriers.

Fetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.

[Application of chromatography-mass spectrometry in the clinical analysis of multiple sclerosis].

Case Report: Safety analysis of blinatumomab consolidation therapy in two cases of acute B-cell lymphoblastic leukemia in complete remission complicated with immune effector cell-associated neurotoxicity syndrome.

Generation and characterization of human induced pluripotent stem cells from neuropathologically confirmed multiple system atrophy patient-derived fibroblasts.

Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care.

Inflammatory biomarkers and white matter microstructure in borderline personality disorder: A cross-sectional study.

Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation.

Deciphering the causal influence of BMI and related metabolic, inflammatory, and cardiovascular factors on brain structure: a Mendelian Randomization Study.

Ribosomal modifications are associated with mesenchymal fate selection in the neural crest lineage.

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.

From synapse to system: mechanistic pathways of neural signaling dysfunction in psychiatric disorders.

Risk factors of epilepsy severity in institutionalized adults with profound intellectual and multiple disabilities from childhood.

A novel rat model harboring two BDNF gene mutations exhibiting autism-like behaviors and cognitive impairments.

Diagnostic Yield of Post-Mortem Fetal Micro-CT for Central Nervous System Abnormalities.

Transcriptome-informed brain cartography of polygenic risk and association with brain structure in major psychiatric disorders.

To Do Or Not To Do: Therapeutic Hypothermia Treatment For An Infant With HIE And Prenatal Spinal Muscular Atrophy With Congenital Bone Fractures.

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1: secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment.

Clinical, pathologic, and molecular profiles of sarcomatoid and rhabdoid differentiated clear cell renal cell carcinoma: A series of 21 tumors.

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants.

Approach to the patient with traumatic brain injury (TBI)-induced pituitary dysfunction.

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.

Phenotypic diversity is caused by non-linear genetic interactions between two SNAREopathy genes.

Relationship between APOE Genotype Status and Imaging Features in Patients with Alzheimer Disease Being Considered for Antiamyloid β Therapy.

Roots of cognitive abnormalities in BTBR male mice: Brain dysmorphology, CSF flow impairment and aberrant BDNF expression.

ACSS2 mediates prenatal alcohol exposure-related morphological and behavioral phenotypes.

Engineering CAR T cells to secrete VEGF-neutralizing scFvs enhances antitumor activity against solid tumors.

Berberine Attenuates Intracranial Aneurysm Formation by Activating SIRT1 to Suppress HMGB1 Acetylation and NF-κB Signaling.

[Research progress on mitochondrial genetic mechanisms underlying the onset of migraine].

Spatial gene expression and functional network abnormalities in multiple sclerosis: exploring biological influence on brain functional reorganization.

Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia.

Beyond motor impairment: investigating cognitive aspects of hereditary spastic paraplegia in a Greek case series.

Brain aging mediates region-specific transcriptomic alterations.

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins.

Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex.

Serotonergic psychedelics as epigenetic modulators: A paradigm shift in Alzheimer's disease therapeutics.

Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model.

Clozapine treatment during the adolescent period reverses behavioral deficits in a dual-hit mouse model combining prenatal stress and maternal immune activation.

Mediodorsal and pulvinar thalamus reductions across the psychosis spectrum.

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Extracellular spike waveform analysis reveals cell type-specific changes in the superior colliculus of fragile X mice.

Cell-type-specific alternative splicing in the brain and kidney of a Setbp1S858R Schinzel-Giedion syndrome mouse.

Modeling Somatic Second-Hit Mutations in Novel Mouse Models of Hereditary Hemorrhagic Telangiectasia.

RNAi-Induced Expression of Paternal UBE3A.

Foundations of an Ovine Model of Fragile X Syndrome.

Developmental Nicotine Exposure Induces Intergenerational Transmission of an Ensemble of Neurodevelopmental Disorder-Related Translatomic Perturbations in DRD1-Expressing Striatal Cells of Adolescent Male Mice.

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

A Clinical Practice Example of Smith-Magenis Syndrome in the Neuropediatric Clinic: Etiology, Clinical Presentation, Diagnostics and Therapeutic Approaches-A Case Report.

A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.

Otopalatodigital Syndrome Type 2: A Case Report.

Neuroinflammation as a driver of Down syndrome-associated Alzheimer's disease.

C-mannosyltransferase Dpy19l1l regulates body axis formation via secretion of SCO-spondin in zebrafish.

Cortex-Restricted Deletion of Foxp1 Impairs Visual Responses by Disrupting Geniculocortical Connections in a Mouse Model of Autism.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Abnormal Hearing Phenotypes in "Ignorome" Knockout Mice as Predictors of Cognitive Dysfunction.

Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.

A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.

Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities.

Detecting Polyneuropathy in Patients with Hereditary Transthyretin Amyloid Cardiomyopathy.

Oligodendrocyte dysfunction in major depressive disorder: Mechanistic insights and emerging therapies.

Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.

Intrathecal (G4C2)149 delivery in C9orf72-deficient mice yields mild motor dysfunction and ALS/FTD pathological hallmarks.

Central nervous system involvement in pediatric hemophagocytic lymphohistiocytosis: A single-center descriptive study of clinical features, neurodiagnostic findings, and outcomes.

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

Shared genetic underpinnings of gray matter volume alterations and metabolic traits in major depressive disorder.

White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification.

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.

Loss of function variants in HPDL impair human cortical development via alterations of mitochondrial function.

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.

The link between weight gain and hippocampal atrophy in bipolar disorder - A longitudinal investigation in 934 participants.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Generation of the iPSC line CRNLi001-A from a patient with microcephaly and harbouring the most recurrent RTTN variant, c.2953A>G, at homozygous state.

Case Report: Prenatal imaging and genetic integrated diagnosis of SCN2A encephalopathy-a case of cryptical cortical dysplasia caused by a loss-of-function frameshift genetic variant.

Genetic and molecular factors associated with changes in structural-functional coupling in medication-free obsessive-compulsive disorder.

Maternal gut microbiota mediates prenatal stress-induced fetal blood‒brain barrier dysfunction.

Very long chain sphingolipids govern brain myelination by regulating oligodendrocyte differentiation and membrane microdomain integrity.

Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.

Pulmonary hypertension associated with hereditary hemorrhagic telangiectasia: from genetics to clinical management.

Cerebral vascular malformation screening in hereditary hemorrhagic telangiectasia: Balancing low diagnostic yield against high-risk hemorrhage.

Loss of Angiopoietin-2 leads to region-specific brain malformations and blood-brain barrier leakage.

AAV-mediated gene therapy in a SLC13A5 citrate transporter disorder model rescues epileptic and metabolic phenotypes.

KRAS-dependent glycolytic reprogramming of endothelial cells in sporadic arteriovenous malformations.

In vivo base editing of Chd3 rescues behavioural abnormalities in mice.

Vesicular Glutamate Release Is Necessary for Neural Tube Formation.

Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.

[A case report of severe hypocalcemia secondary to Fahr's syndrome].

Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in a Drosophila model of fragile X syndrome.

Postnatal Slc26a4 gene therapy improves hearing and structural integrity in a hereditary hearing loss model.

Simultaneous Brain Iron and α-Synuclein Detection in Patients with Synucleinopathies via Quantitative Susceptibility Mapping MRI.

Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant.

Factors impacting survival in individuals with Down syndrome-associated Alzheimer's disease.

Diagnosis of the first seizure-like events in children from third-tier cities in southwestern China: a retrospective cohort study.

Hippocampal Gene Expression in Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis: Assessment of Human Herpesvirus 6B DNA Status.

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.

Spontaneous tauopathy with parkinsonism in an aged cynomolgus macaque.

Microvascular pathology in the spinal cord of severe spinal muscular atrophy patients.

Mechanisms of cerebral venous sinus thrombosis due to essential thrombocythemia: Current status and future perspectives.

Impaired nucleocytoplasmic transport in SOD1-mediated ALS.

Case report of breastfeeding after maternal iodine contrast: neonatal hypothyroidism revealing an underlying congenital disorder.

Structural brain analysis in focal upper limb dystonia.

Convergence and divergence of molecular phenotypes in iPSC-derived models of 16p11.2 and 22q11.2 reciprocal copy number variants.

Oculomotor abnormalities in patients with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) reflect midline cerebellar impairment.

TSC-associated microglial hyperactivity: enhanced calcium signaling, metabolism, and phagocytosis.

Dual recruitment of two CCM2 molecules to KRIT1 suppresses KLF4 expression.

Differences in white matter detected by ex vivo 9.4 T MRI are associated with axonal changes in the R6/1 model of Huntington's disease.

The serotonin receptor 7 as an emerging target to restore altered neuroplasticity in Angelman syndrome.

Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.

Pressure-induced ossicular alterations in the oim mouse model of brittle bone disease do not cause hearing loss.

A Mendelian randomization study exploring the genetic associations between biliary system disorders and brain structural changes.

Alzheimer's Disease: Evolving Therapeutics, Scientific Progress, and Key Challenges.

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Missense variants in TUBA4A cause myo-tubulinopathies.

Vascular normalization by erianin unleashes CAR-T immunotherapy in glioblastoma.

Reduced LOXL3 Expression Disrupts Microtubule Acetylation and Drives TP53-Dependent Cell Fate in Glioblastoma.

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease.

Circulating lncRNAs Remark Expression Profile of Cerebrovascular Malformation Endothelial Cells.

Early diagnosis of fetal ganglionic eminence cysts: imaging, outcome and genetic associations, revealing role of mitochondrial dysfunction.

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review.

Conditional Deletion of Isl1 Disrupts Cochlear Sensory and Neuronal Development, Leading to Hearing Loss.

Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging.

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

소아 신경영상에서 보이는 비선천성 원인의 영상 소견: 임상 화보.

Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR-Gene Family.

Impaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons.

Early-life sleep disruption in Shank3-deficient rats: A preclinical model for autism-related sleep mechanisms and interventions.

The neuropathological mechanisms underlying the inborn errors of lysine metabolism.

AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.

The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.

A microenvironment-determined risk continuum refines subtyping in meningioma and reveals determinants of machine learning-based tumor classification.

A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.

[Genetic analysis and prenatal diagnosis of structural brain abnormalities associated with TUBB gene c.155A>G variant].

Microstructural Disruption of the Forceps Minor in Schizophrenia: A Potential Clinical Imaging Biomarker Using Translational DTI.

Pathogenic tau in the mouse locus coeruleus produces noradrenergic hyperactivity and neuropsychiatric phenotypes reminiscent of early Alzheimer's disease.

Early onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.

Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome.

Tuberous sclerosis complex with multisystem involvement: A case report.

Biosynthetic and genetic pathways related to sialic acid metabolism.

Keeping up the beat of Kleefstra syndrome.

Effects of post-stress corticosterone on hippocampal excitability and behavior involving hyperpolarization-activated cation channel 1 function.

Coronal Clival Cleft: Estimated Prevalence and Clinical Associations in a Pediatric Cohort.

Hippocampal glial alterations are associated with Lamin B1 dysregulation and abnormal nuclear morphology in a rat model of fragile X syndrome.

The HCF-1:OGT axis regulates neuronal proliferation and differentiation.

Plasma neurofilament light chain in pediatric hereditary spastic paraplegia.

Integrated high-resolution copy number and histomolecular analysis of diffuse hemispheric glioma, H3 G34-mutant reveals universal TP53 abnormalities.

Genetic Disorders That Confer Risk for the Development of Psychosis and White Matter Hyperintensities on T2-weighted Imaging: A Practical Guide for Psychiatrists.

Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer's disease and related dementias in a multi-site autopsy cohort.

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Neonatal-onset epileptic encephalopathy with lissencephaly associated with a SCN3A variant: The first case in Korea and literature review.

Endothelial oncogenic KRAS mutation drives the dynamics of microglia and macrophages in brain arteriovenous malformation.

Retinal biomarkers in schizophrenia spectrum disorders: evidence and implications for the neurodevelopmental and neurodegenerative models.

Temporal dynamics of white matter hyperintensities related to Alzheimer's disease in adults with Down syndrome.

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation.

Identification of an engram ensemble mediating memory forgetting in the dentate gyrus.

Spinocerebellar Ataxia Type 35 Presenting with Dysphagia in a Patient from Saudi Arabia: A Case Report and Literature Review.