• <em>In Vitro</em> Effect of 5-Nitroimidazole Drugs against Trichomonas vaginalis Clinical Isolates
• <em>NPHP1</em>-Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases
• <em>RPI-1</em> (human <em>DCDC2</em>) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in <em>C. elegans</em>
• A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
• A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome
• A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome
• A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease
• A variable presentation of Joubert syndrome: Case report and a brief review
• ABO blood type and functional neurological outcome in patients with severe traumatic brain injury
• ACE inhibition and cardiometabolic risk factors, lung <em>ACE2</em> and <em>TMPRSS2</em> gene expression, and plasma ACE2 levels: a Mendelian randomization study
• Adult Presentation of Joubert Syndrome Presenting With Dysphagia: A Case Report
• Ageing and memory loss: opinions of Haitian migrants living in Quebec.
• Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
• 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
• Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
• Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report
• Central nervous system complications associated with immune checkpoint inhibitors
• Cerebellar Ataxia With Anti-DNER Antibodies: Outcomes and Immunologic Features
• 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
• Ciliary Genes in Renal Cystic Diseases
• 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 characteristics of individual organ system disease in non-motile ciliopathies
• Clinical management of COVID-19: Experiences of the COVID-19 epidemic from Groote Schuur Hospital, Cape Town, South Africa
• Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies
• Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome
• Comparing the findings and diagnostic sensitivity of cardiovascular magnetic resonance in biopsy confirmed acute myocarditis with infarct-like vs. heart failure presentation
• Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
• Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
• 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
• Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
• Cranial Nerve Disorders Associated With Immune Checkpoint Inhibitors
• CSPP1 stabilizes growing microtubule ends and damaged lattices from the luminal side
• Cytokine dynamics and targeted immunotherapies in autoimmune encephalitis
• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
• Development Delay in a Child with Microcephaly and Birth Asphyxia: Explore Diagnosis beyond Hypotonic Cerebral Palsy
• Disabling Myoclonus in a Case of Joubert Syndrome
• 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
• Epidemiology of paraneoplastic neurologic syndromes and autoimmune encephalitides in France
• Errorless learning in cognitive rehabilitation of Alzheimer’s disease and primary progressive aphasia
• Estimating the changing burden of disease attributable to alcohol use in South Africa for 2000, 2006 and 2012
• Exome Analysis Reveals Novel Missense and Deletion Variants in the <em>CC2D2A</em> Gene as Causative of Joubert Syndrome
• Familial autoimmunity in neurological patients with GAD65 antibodies: an interview-based study
• Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene
• Fetal ciliopathies: a retrospective observational single-center study
• Gestational age and birth growth parameters as early predictors of fetal alcohol spectrum disorders
• Glial Fibrillary Acidic Protein Autoimmunity: A French Cohort Study
• Homozygosity for a novel missense variant of <em>RPGRIP1L</em> causing Joubert syndrome with renal defects in a family of Chinese descent
• How to diagnose and manage neurological toxicities of immune checkpoint inhibitors: an update
• Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing
• Immunomodulation in the acute phase of autoimmune encephalitis
• Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach
• Increased frequency of anti-Ma2 encephalitis associated with immune checkpoint inhibitors
• Innovative and Contemporary Interventions of Diaphragmatic Disorders
• INPP5E controls ciliary localization of phospholipids and the odor response in olfactory sensory neurons
• Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans
• Isolated seizures are a common early feature of paraneoplastic anti-GABA_B receptor encephalitis
• Joubert syndrome with multiple pituitary hormone deficiency
• Joubert Syndrome: A Rare Radiological Case
• Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases
• 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)
• Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome
• Mutant Ahi1 Affects Retinal Axon Projection in Zebrafish <em>via</em> Toxic Gain of Function
• Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity
• Novelties in Autoimmune and Paraneoplastic Cerebellar Ataxias: Twenty Years of Progresses
• Optic vesicle morphogenesis requires primary cilia
• Pathophysiology of paraneoplastic and autoimmune encephalitis: genes, infections, and checkpoint inhibitors
• 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
• Prognostic Value of Persistent CSF Antibodies at 12 Months in Anti-NMDAR Encephalitis
• Recurrent seizures of autoimmune origin: emerging phenotypes
• Reply to "Comment: Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome"
• Reversible intracranial hypertension following treatment of an extracranial vascular malformation: case report
• Role of LGI1 protein in synaptic transmission: From physiology to pathology
• Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7
• Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting
• The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome
• The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
• The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity
• The Prevalence of Congenital Heart Diseases in Syndromic Children at King Khalid National Guard Hospital from 2005 to 2016
• TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes
• Transient Neurological Symptoms Preceding Cerebellar Ataxia with Glutamic Acid Decarboxylase Antibodies
• Updated Diagnostic Criteria for Paraneoplastic Neurologic Syndromes
• Visual function in children with Joubert syndrome
• Whole exome sequencing facilitated the diagnosis in four Chinese pediatric cases of Joubert syndrome related disorders
• Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
• 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