• <em>hGFAP</em>-mediated <em>GLI2</em> overexpression leads to early death and severe cerebellar malformations with rare tumor formation
• <em>PTRH2</em> Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis
• <em>SMPD4</em> mediated sphingolipid metabolism regulates brain and primary cilia development
• A Birth Cohort Follow-Up Study on Congenital Zika Virus Infection in Vietnam
• A frameshift-deletion mutation in Reelin causes cerebellar hypoplasia in White Swiss Shepherd dogs
• A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus
• A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
• A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia
• A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
• A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy
• A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
• A Novel HSPB1^S139F Mouse Model of Charcot-Marie-Tooth Disease
• A systematic approach identifies p53-DREAM pathway target genes associated with blood or brain abnormalities
• A systematic approach identifies p53-DREAM target genes associated with blood or brain abnormalities
• Abnormal Brain Glucose Metabolism Patterns in Patients with Advanced Non-Small-Cell Lung Cancer after Chemotherapy：A Retrospective PET Study
• Alterations of lipid-mediated mitophagy result in aging-dependent sensorimotor defects
• Arnold-Chiari Malformation
• Arnold-Chiari Malformation
• Avian retroviral cardiomyopathy induced by infectious molecular clones of avian leukosis viruses (fowl glioma-inducing virus variants)
• Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
• Bilirubin-Induced Transcriptomic Imprinting in Neonatal Hyperbilirubinemia
• Case report and systematic review of cerebellar vermis alterations in psychosis
• Case Report: Identification of likely recurrent <em>CEP290</em> mutation in a child with Joubert syndrome and cerebello-retinal-renal features
• CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient
• Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis
• Cerebellar Hypoplasia in Two Juvenile African Grey Parrots (Psittacus erithacus)
• Cerebellar injury in preterm infants less than 28 weeks gestational age
• Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia
• Clinical and genetic analysis of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
• Clinical and Immunologic Features of a Patient With Homozygous FNIP1 Variant
• Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea
• Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene
• CMV-induced Hearing Loss
• Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report
• Congenital cerebral and cerebellar anomalies in relation to bovine viral diarrhoea virus and Akabane virus in newborn calves
• Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel <em>PMM2</em> complex heterozygosis mutation
• Consolidating the association of biallelic <em>MAPKAPK5</em> pathogenic variants with a distinct syndromic neurodevelopmental disorder
• Cytomegalovirus infection lengthens the cell cycle of granule cell precursors during postnatal cerebellar development
• Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking
• Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
• Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
• Disruption of protein geranylgeranylation in the cerebellum causes cerebellar hypoplasia and ataxia via blocking granule cell progenitor proliferation
• Diverse Clinical Phenotypes of <em>CASK</em>-Related Disorders and Multiple Functional Domains of CASK Protein
• Dual and opposing roles for the kinesin-2 motor, KIF17, in Hedgehog-dependent cerebellar development
• Epidemiology of Chuzan Virus Infection in Free-Ranging and Farmed Cervids in South Korea: A Seroprevalence Survey
• Excessive excitability of inhibitory cortical circuit and disturbance of ballistic targeting movement in degenerative cerebellar ataxia
• Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies
• First case of desmosterolosis diagnosed by prenatal whole exome sequencing
• First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies
• Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy
• Genetic Variant in <em>GRM1</em> Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability
• High-efficient CRISPR/Cas9-mediated gene targeting to establish cell models of ciliopathies
• INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
• Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development
• Intrauterine Blood Transfusion for Parvo B19-Induced Fetal Anemia: Neuroimaging Findings and Long-Term Neurological Outcomes
• KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype
• Lack of SPNS1 results in accumulation of lysolipids and lysosomal storage disease in mouse models
• Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation
• Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
• Lymphocytic choriomeningitis virus injures the developing brain: effects and mechanisms
• MAST1-related mega-corpus-callosum syndrome with central hypogonadism
• Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1
• Mosaicism of a Truncating Variant of <em>CASK</em> Causes Congenital Heart Disease and Neurodevelopmental Disorder
• Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series
• Novel characterization of <em>CASK</em> variant <em>c.1963 A&gt;G (p.Asn655Asp)</em> through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report
• Novel Genetic Variant in <em>HUWE1</em>: Prenatal and Postnatal Neuroimaging Phenotype
• Oral self-inflicted accidental trauma in patients with neurological disorders: a case report of dental management in infants with cerebellar hypoplasia
• Overexpression screen of chromosome 21 genes reveals modulators of Sonic hedgehog signaling relevant to Down syndrome
• p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes
• Perinatal clinical course of Vici syndrome associated with novel <em>EPG5</em> variants: unique cardiac changes and difficulty with foetal diagnosis
• Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene
• Periventricular heterotopia in a male child with USP9X missense variant
• PHACE syndrome: a case report and a comprehensive review
• Postnatal injection of Reelin protein into the cerebellum ameliorates the motor functions in reeler mouse
• Postpartum scarcity-adversity inflicts sex-specific cerebellar adaptations and reward behaviors in adolescence
• PRC2 disruption in cerebellar progenitors produces cerebellar hypoplasia and aberrant myoid differentiation without blocking medulloblastoma growth
• Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features
• Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature
• Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the <em>PIGN</em> Gene-A Case Series
• Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies
• Prenatal Magnetic Resonance Imaging helps Discover Cerebellar Dysplasia or Malformations in Foetuses
• Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series
• Relationship of Impairments in Associative Learning With Intellectual Disability and Cerebellar Hypoplasia in Autistic Children
• Spectrum of <em>ERCC6</em>-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
• Spliceosomal GTPase Eftud2 deficiency-triggered ferroptosis leads to Purkinje cell degeneration
• Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome
• Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome
• Structural and connectivity parameters reveal spared connectivity in young patients with non-progressive compared to slow-progressive cerebellar ataxia
• Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report an
• The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report
• The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
• The Role of Bcl11 Transcription Factors in Neurodevelopmental Disorders
• Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
• Two Novel Variants in <em>PI4KA</em> in a Family Presenting With Hereditary Spastic Paraparesis: A Case Report
• Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia
• Unilateral cerebellar hypoplasia in a 9-year-old child with chronic granulomatous disease: A case report
• Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG
• Using in vivo cerebellar electroporation to study neuronal cell proliferation and differentiation in a Joubert syndrome mouse model
• VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review
• X-linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus