Pediatric Cranial Nerve Palsies.

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

Preclinical validation of AAV9-TECPR2 gene therapy in a novel knock-in model of TECPR2-related disorder.

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

Quantitative susceptibility mapping of dentate nucleus iron in SCA6 and SCA31: comparison with pathological findings.

L-2-hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression.

Metabolic dependencies and neural progenitor dysregulation: driving forces in paediatric high-grade glioma development.

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

Microglia Rank signaling regulates GnRH neuronal function and the hypothalamic-pituitary-gonadal axis.

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

LRRK2 kinase mediates increased GCase activity in microglia in response to IFNγ-induced proinflammatory stimulation.

A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

Rare Case of Multifocal Spinal Hemangioblastomas With Holocord Syringo-Hydromyelia in an Adolescent Male.

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

Wild-type C9orf72 expression is a genetic modifier of C9-ALS survival.

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

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

BTK inhibition suppresses neuroinflammation and neurodegeneration in amyotrophic lateral sclerosis.

Decoding Alzheimer's genetic risk through intercellular communication in the human brain: Lessons from Clusterin.

Spontaneous tauopathy with parkinsonism in an aged cynomolgus macaque.

Short telomeres in mitochondrial DNA depletion disorders.

Metabolic acidosis causes a Fanconi-like syndrome with intracellular trafficking defects and proximal tubule dysfunction.

Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort.

Pharmacological modulation of the blood-brain barrier: Mechanisms, therapeutic strategies, and emerging technologies.

Microsurgical resection of a primary mixed intramedullary-extramedullary thoracic meningeal melanoma.

Old enough to be a model? On the role of maturity in stem cell-based models for neuropsychiatric disorders.

Patient-Derived in Vitro Models Reveal Insights into Medullary Thyroid Cancer Microenvironment and Resistance to Tyrosine Kinase Inhibitors.

Primordial germ cell-like cells residing in the pituitary may serve as the origin of intracranial germ cell tumors.

Region-resolved proteomic map of the human brain: functional interconnections and neurological implications.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Presenting Primarily with Exercise Intolerance: A Case Report.

Developmental convergence and divergence in human stem cell models of autism.

RIN3 mutations impairing binding of the Alzheimer's disease-associated protein BIN1 lead to RAB5 hyperactivation and endosomal pathology.

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG.

Dual Genetic Diagnosis of Prader-Willi Syndrome and TMC1-Related Severe Congenital Hearing Loss: Diagnostic Challenges and Cochlear Implant Outcomes.

Reduced Frequency of Prolonged Sporadic Hemiplegic Migraine Attacks Following Fremanezumab Treatment-A Case Report.

Disseminated pediatric low-grade glioma and hydrocephalus: a multinational consortium analysis of incidence and mortality.

Natural history of craniocervical alignment in Chiari patients and the impact of posterior fossa decompression.

Comprehensive assessment of activity, specificity, and safety of hypercompact TnpB systems for gene editing.

The emerging role of the paraventricular thalamic nucleus in bipolar disorder: Lessons from mitochondrial dysfunction.

Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids.

Recent advances in the neurogenomics of autism spectrum disorder.

Negative feedback regulation of alcohol ingestion through the FGF21-PVH oxytocin-VTA dopamine system.

A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients.

Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene.

An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia.

dentification and characterization of novel PAX4 variants in patients with suspected MODY9.

Investigation of dipyridamole-elicited signaling in the brain of Niemann Pick type C mice: A multi-omic study.

Concurrent Juvenile Myelomonocytic Leukemia and Gliomas in Patients With Neurofibromatosis Type 1.

Primate-specific adaptation of Ku protects transcriptomic integrity by suppressing Alu-mediated alternative splicing.

Integrative Genomic and Functional Analyses Reveal NINL as a Modulator of Tau Aggregation.

Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome.

Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.

Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids.

SETD1A regulates psychiatric gene networks involved in genomic stability and synaptic function in rare and sporadic schizophrenia.

Cavernous Malformations of the Brain: Natural History and Surgical Outcomes.

Decoding neurovascular signatures: advanced imaging insights in DADA2-Related Cerebral Microangiopathy.

Global burden of lower respiratory infections and aetiologies, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitors.

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome.

Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.

Applying biologically anchored subtypes to advance precision medicine in autism spectrum disorder.

Respiratory Involvement in HIST1H1E-Related Rahman Syndrome: A Case of Severe Mixed Apnea.

Novel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.

The evolution of microglia replacement: A new paradigm for CNS disease therapy.

Mecp2 deficiency induces dysphagia in a preclinical model of Rett Syndrome.

Infantile Subacute Brainstem Infarction and the Presence of Incidental Ectopic Lymphoid Tissue: A Rare Case.

Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape.

Neurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.

Different diseases, same circuits: lessons from rare and overlooked causes of disorders of consciousness.

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.

Microproteins Simba1 and Simba2 activate Wingless signaling during the reactivation of neural stem cells in Drosophila.

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.

Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.

Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.

Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism.

A whole-brain structural connectivity signature in adult Niemann-Pick disease type C.

Central nervous system cryptococcosis with brain stem hemorrhage during chemotherapy for pediatric acute myeloblastic leukemia patient.

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Hypersynchronous iPSC-derived SHANK2 neuronal networks are rescued by mGluR5 agonism.

BRAIN-MAGNET: A functional genomics atlas for interpretation of non-coding variants.

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations.

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature.

An updated evolutionary classification of CRISPR-Cas systems including rare variants.

An overview of the diagnosis and management of Choroid Plexus tumors.

Conservation and alteration of mammalian striatal interneurons.

Mitochondrial Leigh syndrome: the state of the art.

C-terminus-dependent detection of lysosomal alpha-synuclein in nigral Parkinson's disease human brain neurons.

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X-Linked Hypophosphatemic Rickets.

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.

Audiovestibular Dysfunction in Hyper-IgE Syndrome: A Systematic Review of Characteristics, Pathophysiology, Diagnosis, and Management.

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant.

Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes.

Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances-a recent review.

Commentary: Toward a global atlas of ocular surface biology: Rationale, design, and clinical applications.

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective.

Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2.

The neurologic face of X-linked lymphoproliferative syndrome type 1: a systematic review.

Zebrafish models of developmental epileptic encephalopathy accurately reflect clinical electrographic biomarkers.

Integrated clinical and molecular landscape of disseminated pediatric low-grade glioma.

Unraveling enteroendocrine cell lineage dynamics and associated gene regulatory networks during intestinal development.

Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study.

Severe Chemoradiotherapy Toxicity in a Pediatric Patient with Leigh Syndrome and Grade IV Isocitrate Dehydrogenase-Mutant Astrocytoma: A Case Report.

Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.

Circadian clock proteins BMAL1 and CLOCK regulate HSV-1 entry into nerve cells through NECTIN-1.

Sex Differences in Auditory Brainstem Responses of Two Rat Models of Autism: Environmental and Genetic Contributions to Autism-Like Auditory Function.

Molecular Signatures of Schizophrenia and Insights into Potential Biological Convergence.

NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain.

Global burden of 292 causes of death in 204 countries and territories and 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Burden of 375 diseases and injuries, risk-attributable burden of 88 risk factors, and healthy life expectancy in 204 countries and territories, including 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.

Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient.

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Isolated Central Nervous System FHL3 in an Asian Pediatric Patient: A Case Report and Literature Review.

New Lens On Congenital Mild Bone Fragility: a Novel Col1a1 Knockout Mouse Model for Osteogenesis Imperfecta Type 1.

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Northern-Cyprus population.

Acute Necrotizing Encephalopathy in a Child With RANBP2 Mutation: A Case of Unanticipated Full Resolution.

Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila.

The global, regional, and national burden of cancer, 1990-2023, with forecasts to 2050: a systematic analysis for the Global Burden of Disease Study 2023.

Horizontal Gaze Palsy and Progressive Scoliosis: Clinical Profile and Review of Literature.

Multimodal Imaging Features in a Fatal Case of Incontinentia Pigmenti with Severe Neurological Involvement: A Case Report and Literature Review.

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Diffuse midline glioma, H3K27-altered: a rare presentation with gliomatosis cerebri growth pattern and progression toward midline.

AAV9-DARS2 Gene Therapy Rescues Phenotype in Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Patient Cells and Neuronal Dars2 Deficient Mice.

Decreased RYR2 Cluster Size and Abnormal SR Ca2+ Release Contribute to Arrhythmogenesis in TMEM43-Related ARVC.

Patient-Derived Neurons Exhibit α-Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex Class I Elevation in Mitochondrial Membrane Protein-Associated Neurodegeneration.

Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature.

Human Retinal Organoid Modeling Defines Developmental Window and Therapeutic Vulnerabilities in MYCN-Amplified Retinoblastoma.

The Landscape of Primary Central Nervous System Lymphoma (PCNSL): Clinicopathologic and Genomic Characteristics and Therapeutic Perspectives.

Proteomics of Patient-Derived Striatal Medium Spiny Neurons in Multiple System Atrophy.

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

ABCA7 variants impact phosphatidylcholine and mitochondria in neurons.

The X-Age Project to construct a Chinese aging clock.

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

Multicellular tumor-stromal interactions recapitulate aspects of therapeutic response and human oncogenic signaling in a 3D disease model for H3K27M-altered DIPG.

Functional validation of the Nav1.5/R1432G Brugada syndrome variant using a Nav1.5 knockout iPSC-derived cardiomyocyte model.

Deep Learning Modeling to Differentiate Multiple Sclerosis From MOG Antibody-Associated Disease.

Cerebral small vessel disease related to a heterozygous missense mutation in HTRA1: A case report.

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.

C9orf72 Repeat Expansion Induces Metabolic Dysfunction in Human iPSC-Derived Microglia and Modulates Glial-Neuronal Crosstalk.

Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay.

Bilateral Symmetrical Brain MRI Findings in Acute Necrotising Encephalopathy Type 1.

Diagnostic performance of "pons chocolate chip sign" in heterozygous HTRA1-related cerebral small vessel disease.

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.

Therapeutic strategies for Huntington's disease: current approaches and future direction.

Modeling MPPH syndrome in vivo using Breasi-CRISPR.

Computationally resolved neuroprogenitor cell biomarkers associate with human disorders.

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Stem cell and gene therapies for leukodystrophies.

FOXP genes regulate Purkinje cell diversity and cerebellar morphogenesis.

Pediatric low-grade brainstem glioma: a review of current diagnosis and treatment paradigms in the molecular era.

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center.

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

ECHS1: pathogenic mechanisms, experimental models, and emerging therapeutic strategies.

Morphological profiling reveals neuroprotection via mitochondrial uncoupling in human dopaminergic neurons.

Centriolar protein PIBF1 is required for craniofacial and forebrain development.

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Unraveling the enigma of mental disorders: a genetics-first approach and the role of mouse models based on rare disease-susceptible genome variants.

Application of brain organoids in neurodevelopmental disorders.

Modeling rare genetic disease with patient-derived induced pluripotent stem cells: reassessment of the minimum numbers of lines needed.

Generation of induced pluripotent stem cells from 8 neurotypical individuals with elevated genetic risk for schizophrenia.

Mismatch Repair Cancer Syndrome presenting as synchronous high-grade glioma and diffuse large B cell lymphoma in a pediatric patient.

Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch-Boonstra-Schaaf optic atrophy syndrome in a Chinese patient.

Ciliopathy: Senior-Løken Syndrome.

Long-read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neurons.

Mutations in GFAP Alter Early Lineage Commitment of Organoids.

Gene editing for Spinocerebellar ataxia type 3 taking advantage of the human ATXN3L paralog as replacement gene.

Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion.

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication.

Age-Onset-Related Particularities of Pediatric MS-Understanding the Spectrum: A Tertiary Center Experience.

Feingold syndrome with GJB2 variants.

Endoplasmic reticulum stress and autophagy as potential therapeutic targets in SERPINF1 mutation-induced type VI osteogenesis imperfecta.

Gene Therapy vs Cochlear Implantation in Restoring Hearing Function and Speech Perception for Individuals With Congenital Deafness.

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

CHI3L1/YKL-40 signaling inhibits neurogenesis in models of Alzheimer's disease.

Systematic phenotype and genotype characterization of Moebius syndrome.

Identifying compound heterozygous variants in the EEFSEC gene linked to progressive cerebellar atrophy.

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders.

Glucosylsphingosine is a potential fluid-based biomarker of lysosomal dysfunction in Cln3Δex7/8 mice.

Neuroimaging characteristics of single Large-Scale mitochondrial DNA deletion syndromes.

Typical "brainstem chocolate chip sign" in heterozygous HTRA1-related cerebral small vessel disease.

Ocular inflammation as the first presenting feature of PRF1-associated familial hemophagocytic lymphohistiocytosis, case report and review of literature.

Generation of human induced pluripotent stem cell line from a familial Alzheimer's disease patient carrying missense mutations in PSEN1 and MAPT genes.

Loss of Eml1 alters microtubule-associated protein networks in mouse brain heterotopia.

Generation of an induced pluripotent stem cell line (HZSMHCi002-A) from a patient with neuronal intranuclear inclusion disease carrying GGC repeat expansion in the NOTCH2NLC gene.

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

What does a migraine aura look like?-A systematic review.

Maternal thyroid hormone is required to develop the hindbrain vasculature in zebrafish.

Uncommon Non-MS Demyelinating Disorders of the Central Nervous System.

Patient-Derived Cortical Organoids Reveal Senescence of Neural Progenitor Cells in Hutchinson-Gilford Progeria Syndrome.

Intronic VNTRs downregulate expression of HSF1 and confer genetic risk of essential tremor.

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.