- Paroxysmal sympathetic hyperactivity following status epilepticus in a 22-year-old with Juvenile Neuronal Ceroid Lipofuscinosis: A case report
- Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties
- Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice
- Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures
- A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface
- Neuronal ceroid lipofuscinoses
- Study for the Treatment for CLN7 Disease
- Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses
- Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids
- Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey
- Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3
- Neuroinflammation in neuronal ceroid lipofuscinosis
- Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world
- An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease
- Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry
- Ophthalmological manifestations of neuronal ceroid lipofuscinoses (NCL) : NCL as diseases of brain and retina-the role of ophthalmologists
- Extracellular Vesicle-Based Therapeutics: Preclinical and Clinical Investigations
- Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2
- Evaluating and modulating TFEB in the control of autophagy: towards new treatments in CNS disorders
- Natural History Study of Batten Disease
- Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3
- Clinical pharmacokinetics and pharmacodynamics of cerliponase alfa, enzyme replacement therapy for CLN2 disease by intracerebroventricular administration
- Natural History and Longitudinal Clinical Assessments in NCLs/Batten Disease, the International DEM-CHILD Database
- Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease
- Batten disease: an expert update on agents in preclinical and clinical trials
- Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation
- Experimental therapeutic approaches for the treatment of retinal dystrophy in neuronal ceroid lipofuscinosis
- Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis
- Correction to: Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum
- Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints
- Imaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease)
- MRI in CLN2 disease patients: Subtle features that support an early diagnosis
- Editorial: Role of Protein Palmitoylation in Synaptic Plasticity and Neuronal Differentiation
- Endosomal Trafficking in Alzheimer’s Disease, Parkinson’s Disease, and Neuronal Ceroid Lipofuscinosis
- Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease : Clinical Practice Considerations From US Clinics
- Using NPT to Evaluate Providing PPC as ELNEC-PPC WBT for Nurses
- Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis
- Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis
- Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retina pigment epithelium
- BTV-14 Infection in Sheep Elicits Viraemia with Mild Clinical Symptoms
- Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis
- Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis
- A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis
- Neurofilament light is a treatment-responsive biomarker in CLN2 disease
- Predicting novel genomic regions linked to genetic disorders using GWAS and chromosome conformation data – a case study of schizophrenia
- Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis
- Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
- Red flags for neuronal ceroid lipofuscinosis type 2 disease
- A Natural History Study of Late Infantile Variant CLN5 And CLN7 Disease
- Longitudinal Study of Neurodegenerative Disorders
- Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
- Natural History of Neuronal Ceroid Lipofuscinosis, Batten’s CLN6 Diseae
- A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease
- A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease
- UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
- Rare Disease Patient Registry & Natural History Study – Coordination of Rare Diseases at Sanford
- AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis
- Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)
- Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
- Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis
