• <em>In Vitro</em> Effect of 5-Nitroimidazole Drugs against Trichomonas vaginalis Clinical Isolates
• <em>SUFU</em> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
• A 5-year-old girl with kidney impairment and severe anemia: Answers
• A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype
• A case report of Joubert syndrome with renal involvement and seizures in a neonate
• A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
• A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
• A new case of Melnick-Needles syndrome with skeletal manifestations: A case report
• A novel variant in C5ORF42 gene is associated with Joubert syndrome
• Advances in treatments of patients with classical and emergent neurological toxicities of anticancer agents
• 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
• Apical PtdIns(4,5)P₂ is required for ciliogenesis and suppression of polycystic kidney disease
• Argonaute Autoantibodies as Biomarkers in Autoimmune Neurologic Diseases
• Aspalathin-Enriched Green Rooibos Extract Reduces Hepatic Insulin Resistance by Modulating PI3K/AKT and AMPK Pathways
• Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China
• ATXN10 Is Required for Embryonic Heart Development and Maintenance of Epithelial Cell Phenotypes in the Adult Kidney and Pancreas
• Autoimmune neuromyotonia
• Capillary Hemangioma in Joubert Syndrome: A Case Report
• Cardiac magnetic resonance imaging in preeclampsia complicated by pulmonary edema shows myocardial edema with normal left ventricular systolic function
• Cerebellar Ataxia With Anti-DNER Antibodies: Outcomes and Immunologic Features
• Characteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children
• Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish
• Clinical and genetic analyses of Joubert syndrome in children
• Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders
• Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome
• Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
• Cohort profile: Actionable Register of Geneva Outpatients and inpatients with SARS-CoV-2 (ARGOS)
• Comparing the findings and diagnostic sensitivity of cardiovascular magnetic resonance in biopsy confirmed acute myocarditis with infarct-like vs. heart failure presentation
• Conformation-stabilizing ELISA and cell-based assays reveal patient subgroups targeting three different epitopes of AGO1 antibodies
• Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA)
• Cranial Nerve Disorders Associated With Immune Checkpoint Inhibitors
• De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
• Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis
• Diagnostic yield of commercial immunodots to diagnose paraneoplastic neurologic syndromes
• Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome
• 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
• DNA Variant in the <em>RPGRIP1L</em> Gene Influences Alternative Splicing
• Driving pressure and acute respiratory distress syndrome in critically ill patients
• Early-Stage Contactin-Associated Protein-like 2 Limbic Encephalitis: Clues for Diagnosis
• Epidemiology of paraneoplastic neurologic syndromes and autoimmune encephalitides in France
• Epidemiology, clinical picture and long-term outcomes of FIP1L1-PDGFRA-positive myeloid neoplasm with eosinophilia: Data from 151 patients
• Erythroderma revealing IPEX syndrome
• Estimating the changing burden of disease attributable to alcohol use in South Africa for 2000, 2006 and 2012
• Familial autoimmunity in neurological patients with GAD65 antibodies: an interview-based study
• Fetal ciliopathies: a retrospective observational single-center study
• Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome
• GAD65-Ab encephalitis and subtle focal status epilepticus
• Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China

• Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome
• Gestational age and birth growth parameters as early predictors of fetal alcohol spectrum disorders
• 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
• Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity
• Joubert syndrome caused by INPP5E mutations: report of a family
• Joubert syndrome type 5 caused by a new compound heterozygous mutation in CEP290
• 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
• Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous <em>CPLANE1</em> Variant
• Long-term evolution and prognostic factors of epilepsy in limbic encephalitis with LGI1 antibodies
• Long-term outcomes in temporal lobe epilepsy with glutamate decarboxylase antibodies
• Metabolite profiling and bioactivity of <em>Cicerbita alpina</em> (L.) Wallr. (Asteraceae, Cichorieae)
• Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <em>MKS1</em> Truncating Variants
• 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
• Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis
• Multiple ciliary localization signals control INPP5E ciliary targeting
• Neonatal Joubert Syndrome With Renal Involvement and Respiratory Distress
• Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity
• New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome
• Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia
• Novel variant CPLANE 1: c.5051C&gt;A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome
• Nystagmus And Beyond: A Rare Ocular Motility Disorder
• OFD Type I syndrome: lessons learned from a rare ciliopathy
• 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
• 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
• Recurrent seizures of autoimmune origin: emerging phenotypes
• Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders
• Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants
• 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
• Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity
• Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA
• The incidence and outcomes of high-risk acute coronary syndromes in Western Cape Province, South Africa: A prospective cohort study
• TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
• Transient Neurological Symptoms Preceding Cerebellar Ataxia with Glutamic Acid Decarboxylase Antibodies
• Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease
• Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function
• Visual function in children with Joubert syndrome
• Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family
• Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy
• xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology