• <em>ATAD3A</em> gene mutations in a family with Harel-Yoon syndrome
• <em>ATAD3A</em> gene variations in a family with Harel-Yoon syndrome
• A case report and literature review of pontocerebellar hypoplasia type 13 combined with abnormal liver function caused by VPS51 gene variation
• A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia
• A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
• A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
• A Novel Frameshift <em>CASK</em> Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report
• A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report
• A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
• A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report
• A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay
• A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
• A Patient with a Novel <em>RARS2</em> Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature
• A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review
• A severe clinicopathologic phenotype of RAF1 Ser257Leu neomutation in a preterm infant without cardiac anomaly
• 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
• Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <em>PPP2R1A</em> Variant and Its Unreported Phenotype
• An unknown essential function of tRNA splicing endonuclease is linked to the integrated stress response and intron debranching
• Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene
• ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
• Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation
• Biallelic <em>ATOH1</em> Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss
• Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss
• Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
• Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review
• Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
• Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the <em>SEPSECS</em> Gene
• Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1
• Case Report: Identification of a novel <em>CASK</em> missense variant in a Chinese family with MICPCH
• Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia
• Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations
• Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7
• Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience
• COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum
• Comprehensive analysis reveals TSEN54 as a robust prognosis biomarker and promising immune-related therapeutic target for hepatocellular carcinoma
• Correction: A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
• Correction: A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review
• Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
• Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
• Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical, Neurodevelopmental, and Imaging Insight From 19 Extremely Premature Patients
• Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases
• Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
• Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
• Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
• FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH
• Fetal Pontine Tegmental Cap Dysplasia- A Case Report
• Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A &gt; C mutation in EXOSC3 along with a family matched control
• Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control
• Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic <em>TOE1</em> variants causing pontocerebellar hypoplasia type 7
• Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7
• Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein
• Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene <em>FTH1</em> Cause a Novel Pediatric Neuroferritinopathy
• Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Neuroferritinopathy
• Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
• Homozygous EXOSC3 c.395A&gt;C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review
• Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review
• Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences
• IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency
• INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
• Knockdown of Toe1 causes developmental arrest during the morula-to-blastocyst transition in mice
• Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10
• Modeling neurodegenerative disorders in zebrafish
• Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children
• Mutations in Drosophila tRNA processing factors cause phenotypes similar to Pontocerebellar Hypoplasia
• Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy
• Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy
• No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B
• Novel bi-allelic variants of <em>CHMP1A</em> contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence
• Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence
• Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7
• Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6
• Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of <em>TOE1</em> in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report
• Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of TOE1 in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report
• Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report
• Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review
• Pontocerebellar Hypoplasia Type 9: A Case Study Highlighting Distinctive Magnetic Resonance Imaging Features
• Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature
• Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up
• Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants
• Recent insights into the structure, function, and regulation of the eukaryotic transfer RNA splicing endonuclease complex
• Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
• Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses
• Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7
• Severe Ciliopathy-Like Phenotype in an Infant With a Novel <em>MPDU1</em> Missense Variant
• Severe spinal cord hypoplasia due to a novel <em>ATAD3A</em> compound heterozygous deletion
• Sm complex assembly and 5' cap trimethylation promote selective processing of snRNAs by the 3' exonuclease TOE1
• Structural basis for pre-tRNA recognition and processing by the human tRNA splicing endonuclease complex
• Structural basis of substrate recognition by human tRNA splicing endonuclease TSEN
• Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration
• Synaptic logistics: The presynaptic scaffold protein Piccolo a nodal point tuning synaptic vesicle recycling, maintenance and integrity
• TBC1D23 mediates Golgi-specific LKB1 signaling
• The 3' exonuclease TOE1 selectively processes snRNAs through recognition of Sm complex assembly and 5' cap trimethylation
• The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model
• The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation
• The Therapeutic Potential of tRNA-derived Small RNAs in Neurodegenerative Disorders
• TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations
• U1 snRNP Biogenesis Defects in Neurodegenerative Diseases
• U1 SNRNP BIOGENESIS DEFFECTS IN NEURODEGENERATIVE DISEASES
• What connects splicing of transfer RNA precursor molecules with pontocerebellar hypoplasia?