Disease: Cerebellar hypoplasia tapetoretinal degeneration
- 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4
- A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
- A case in the spectrum of the oculo-encephalo-hepato-renal syndrome
- A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an <em>ELOVL4</em> mutation
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
- Abnormal cone synapses in human cone-rod dystrophy
- Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain
- Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy
- Adult Refsum disease. A retinal dystrophy with therapeutic options
- An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
- Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome
- Ataxia with loss of Purkinje cells in a mouse model for Refsum disease
- Autosomal recessive cerebellar hypoplasia
- Bardet-biedl syndrome and brain abnormalities
- Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
- Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
- Carbohydrate-deficient blood glycoprotein syndrome
- Carbohydrate-deficient-glycoprotein syndrome and ophthalmological manifestations
- Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome"
- Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome
- Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
- Ciliopathies
- Ciliopathies and the Kidney: A Review
- Ciliopathy--cause of several peculiar syndromes
- Clinical spectrum of Hallervorden-Spatz syndrome in India
- Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
- Congenital disorders of glycosylation
- Dandy-Walker Malformation
- Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
- Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors
- Disruption of mitochondrial homeostasis by phytanic acid in cerebellum of young rats
- Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy
- Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
- Expanding horizons: ciliary proteins reach beyond cilia
- Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI)
- Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
- Expanding the molecular and phenotypic spectrum of truncating <em>MT-ATP6</em> mutations
- Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects
- Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
- Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies
- Genetic basis of Joubert syndrome and related disorders of cerebellar development
- Hereditary cerebro-oculo-renal syndromes
- Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities
- Homozygosity for a novel missense variant of <em>RPGRIP1L</em> causing Joubert syndrome with renal defects in a family of Chinese descent
- Infantile childhood onset of spinocerebellar ataxia type 2
- Inherited cerebrorenal syndromes
- Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system
- Manometric study in Kearns-Sayre syndrome
- Maternal inheritance and the evaluation of oxidative phosphorylation diseases
- Microcephaly with chorioretinal degeneration
- Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <em>MKS1</em> Truncating Variants
- Missense mutations in the WD40 domain of <em>AHI1</em> cause non-syndromic retinitis pigmentosa
- Mitochondrial Disorder: Kearns-Sayre Syndrome
- Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome
- Mutation of POC1B in a severe syndromic retinal ciliopathy
- Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism
- Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
- Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans
- Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
- Myopathy, cerebellar ataxia and Williams syndrome like features in siblings
- NARP syndrome and adult-onset generalised seizures
- Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association
- Nephronophthisis: a variant
- Neurological mitochondrial cytopathies
- NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA SYNDROME: A MULTIDISCIPLINARY DIAGNOSIS
- Neuroradiology and clinical aspects of Usher syndrome
- New Insights into Cystic Kidney Diseases
- Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders
- Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment
- OFD Type I syndrome: lessons learned from a rare ciliopathy
- Ophthalmoplegia plus: clinical relevance of magnetic resonance tomogaphy findings
- Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age
- Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1
- Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
- PMM2-CDG
- Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis
- Prenatal diagnosis of Meckel-Gruber syndrome. Case report and literature review
- Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with <em>TMEM67</em> Mutations
- Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E
- Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy
- Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
- Refsum's Disease-Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder
- Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants
- Risk of sudden cardiac death in EXOSC5-related disease
- Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses
- SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity
- Severe cardiac failure in Kearns-Sayre syndrome
- Something to sink your teeth into
- Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing
- The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders
- The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
- The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia
- The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies
- The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity
- The RNA Exosome and Human Disease
- TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family
- TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
- Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies
- Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings
- Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects