• 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A
• A novel non-sense variant in the OFD1 gene caused Joubert syndrome
• ABO blood type and functional neurological outcome in patients with severe traumatic brain injury
• Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration
• An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in <em>ZNF423</em> Gene
• Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome
• Anti-CASPR2 clinical phenotypes correlate with HLA and immunological features
• Anti-Hu Antibodies in Patients With Neurologic Side Effects of Immune Checkpoint Inhibitors
• Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
• Argonaute Autoantibodies as Biomarkers in Autoimmune Neurologic Diseases
• ARL3 mediates BBSome ciliary turnover by promoting its outward movement across the transition zone
• Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China
• Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in <em>ARL3</em> Gene
• Bilateral Intraorbital Opticmeningoceles in Joubert Syndrome
• Central nervous system complications associated with immune checkpoint inhibitors
• CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
• Cerebellar Ataxia With Anti-DNER Antibodies: Outcomes and Immunologic Features
• Ciliopathies and the Kidney: A Review
• Clinical and genetic analyses of Joubert syndrome in children
• Clinical and genetic characteristics of 36 children with Joubert syndrome
• Clinical and Imaging Profile of Patients with Joubert Syndrome
• Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy
• Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• Clinical and Prognostic Value of Immunogenetic Characteristics in Anti-LGI1 Encephalitis
• Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
• Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies
• Common Risk Variants in <em>AHI1</em> Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome
• Comparing the findings and diagnostic sensitivity of cardiovascular magnetic resonance in biopsy confirmed acute myocarditis with infarct-like vs. heart failure presentation
• Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis
• Conformation-stabilizing ELISA and cell-based assays reveal patient subgroups targeting three different epitopes of AGO1 antibodies
• Congenital Malformations of Cerebellum
• Contribution of diffusion-weighted imaging to distinguish herpetic encephalitis from auto-immune encephalitis at an early stage
• Cranial Nerve Disorders Associated With Immune Checkpoint Inhibitors
• Diagnostic yield of commercial immunodots to diagnose paraneoplastic neurologic syndromes
• Distinct movement disorders in contactin-associated-protein-like-2 antibody-associated autoimmune encephalitis
• Distinctive clinical presentation and pathogenic specificities of anti-AK5 encephalitis
• Distinguishing non severe cases of dengue from COVID-19 in the context of co-epidemics: A cohort study in a SARS-CoV-2 testing center on Reunion island
• Early-Stage Contactin-Associated Protein-like 2 Limbic Encephalitis: Clues for Diagnosis
• Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment
• Epidemiology of paraneoplastic neurologic syndromes and autoimmune encephalitides in France
• Estimating the changing burden of disease attributable to alcohol use in South Africa for 2000, 2006 and 2012
• Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
• Extrapyramidal side effects in first-episode schizophrenia treated with flupenthixol decanoate
• Familial autoimmunity in neurological patients with GAD65 antibodies: an interview-based study
• GAD65-Ab encephalitis and subtle focal status epilepticus
• Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China

• Gestational age and birth growth parameters as early predictors of fetal alcohol spectrum disorders
• Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals
• How to diagnose and manage neurological toxicities of immune checkpoint inhibitors: an update
• Identification of <em>LAMA1</em> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome
• Increased frequency of anti-Ma2 encephalitis associated with immune checkpoint inhibitors
• INPP5E controls ciliary localization of phospholipids and the odor response in olfactory sensory neurons
• Interactions between TULP3 tubby domain and ARL13B amphipathic helix promote lipidated protein transport to cilia
• Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity
• Joubert syndrome diagnosed renally late
• Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases
• KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant
• Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
• Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
• Metabolite profiling and bioactivity of <em>Cicerbita alpina</em> (L.) Wallr. (Asteraceae, Cichorieae)
• Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
• Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy
• Mutant Ahi1 Affects Retinal Axon Projection in Zebrafish <em>via</em> Toxic Gain of Function
• Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity
• Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia
• Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings
• Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
• Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems
• Optic vesicle morphogenesis requires primary cilia
• Outcomes of patients with COVID-19 acute respiratory distress syndrome requiring invasive mechanical ventilation admitted to an intensive care unit in South Africa
• Paraneoplastic cerebellar ataxia and antibodies to metabotropic glutamate receptor 2
• Paraneoplastic neurological syndromes associated with renal or bladder cancer: case series and PRISMA-IPD systematic review
• PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia
• Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
• Phenotypic characteristics and prognosis of inpatients with COVID-19 and diabetes: the CORONADO study
• Pregnancy outcomes in anti-NMDA receptor encephalitis: Case series
• Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
• Primary DQ effect in the association between HLA and neurological syndromes with anti-GAD65 antibodies
• Prognostic Value of Persistent CSF Antibodies at 12 Months in Anti-NMDAR Encephalitis
• Recurrent seizures of autoimmune origin: emerging phenotypes
• Role of LGI1 protein in synaptic transmission: From physiology to pathology
• Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies
• SOX1 antibody-related paraneoplastic neurological syndromes: clinical correlates and assessment of laboratory diagnostic techniques
• Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
• Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognition
• TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating
• TALPID3 in Joubert syndrome and related ciliopathy disorders
• The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies
• The incidence and outcomes of high-risk acute coronary syndromes in Western Cape Province, South Africa: A prospective cohort study
• Transient Neurological Symptoms Preceding Cerebellar Ataxia with Glutamic Acid Decarboxylase Antibodies
• Treatment of dental caries in a patient with Joubert syndrome without the use of sedatives: A case study
• Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease
• Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant
• Ultrasound guided supra-inguinal fascia iliaca block for total hip arthroplasty in a patient with Joubert Syndrome: An efficient block for a patient with a high risk of post-operative respiratory failure
• Updated Diagnostic Criteria for Paraneoplastic Neurologic Syndromes
• Visual function in children with Joubert syndrome
• Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome
• Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
• xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology
• ZFP423 regulates early patterning and multiciliogenesis in the hindbrain choroid plexus