• 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A
• A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype
• A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
• A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia
• A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)
• A Rare Case of Transplanted Kidney Lymphangiectasia in a Patient With Joubert Syndrome
• ABO blood type and functional neurological outcome in patients with severe traumatic brain injury
• Age and sex prevalence estimate of Joubert syndrome in Italy
• Anti-CASPR2 clinical phenotypes correlate with HLA and immunological features
• Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
• Argonaute Autoantibodies as Biomarkers in Autoimmune Neurologic Diseases
• ARL13B, a Joubert Syndrome-Associated Protein, Is Critical for Retinogenesis and Elaboration of Mouse Photoreceptor Outer Segments
• Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China
• Balint syndrome in anti-NMDA receptor encephalitis
• Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing
• Brain magnetic resonance imaging of Joubert syndrome: case presentation in a child
• Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
• Cardiac magnetic resonance imaging in preeclampsia complicated by pulmonary edema shows myocardial edema with normal left ventricular systolic function
• Central nervous system complications associated with immune checkpoint inhibitors
• Chronic dry eye induced corneal hypersensitivity, neuroinflammatory responses, and synaptic plasticity in the mouse trigeminal brainstem
• Clinical and genetic analyses of Joubert syndrome in children
• Clinical and genetic characteristics of 36 children with Joubert syndrome
• Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• 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
• 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
• Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
• Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome
• Cranial Nerve Disorders Associated With Immune Checkpoint Inhibitors
• Cytokine dynamics and targeted immunotherapies in autoimmune encephalitis
• Diagnosis at a glance
• Diagnostic yield of commercial immunodots to diagnose paraneoplastic neurologic syndromes
• Disrupted intraflagellar transport due to IFT74 variants causes 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
• 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
• EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT)
• Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review
• 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
• Fleck-like lesions in <em>CEP290-associated</em> leber congenital amaurosis: a case series
• Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome
• Fourth ventricle index: sonographic marker for severe fetal vermian dysgenesis/agenesis
• Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing
• Glial Fibrillary Acidic Protein Autoimmunity: A French Cohort Study
• Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum
• Increased frequency of anti-Ma2 encephalitis associated with immune checkpoint inhibitors
• Isolated seizures are a common early feature of paraneoplastic anti-GABA_B receptor encephalitis
• Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity
• Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases
• Joubert-Plus syndrome with an atretic cephalocele: a case report
• 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
• Mirror Movements of the Left Hand in a Patient with Joubert Syndrome
• Missense variants in <em>TMEM67</em> in a patient with Joubert syndrome
• Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis
• Muscular disorder related to immune checkpoint inhibitors: forewarned is forearmed
• Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity
• Neuropathic pain, dysautonomia, and nerve hyperexcitability: Expanding the spectrum of LGI1 autoimmunity
• New insights into <em>CC2D2A</em>-related Joubert syndrome
• New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations
• Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia
• Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
• Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
• Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
• Outcomes of patients with COVID-19 acute respiratory distress syndrome requiring invasive mechanical ventilation admitted to an intensive care unit in South Africa
• Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
• 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 alcohol exposure disrupts Sonic hedgehog pathway and primary cilia genes in the mouse neural tube
• Prenatal diagnosis of brainstem anomalies
• Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
• Primary Cilia and Brain Wiring, Connecting the Dots
• Primary Cilia Signaling Promotes Axonal Tract Development and Is Disrupted in Joubert Syndrome-Related Disorders Models
• Primary DQ effect in the association between HLA and neurological syndromes with anti-GAD65 antibodies
• Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly
• Recurrent seizures of autoimmune origin: emerging phenotypes
• 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
• Spatial and Ecological Factors Modulate the Incidence of Anti-NMDAR Encephalitis-A Systematic Review
• Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome
• 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
• The Joubert syndrome protein CEP41 is excluded from the distal segment of cilia in <em>C. elegans</em>
• The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP)
• The neurological kissing spine syndrome: Baastrup's epidural cyst
• Updated Diagnostic Criteria for Paraneoplastic Neurologic Syndromes
• 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 Novel <em>ARMC9</em> Variations in Two Cases With Joubert Syndrome
• Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy
• Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration