Pending

NYSCF Scientific Discovery Biobank
A First-in-Human Study in Pediatric Patients With Ocular CLN2 Disease
Baby Detect : Genomic Newborn Screening
Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Gene Therapy Study for Children With CLN5 Batten Disease
An Open-label Safety, Pharmacokinetic, and Efficacy Study of the Combination of Trehalose and Miglustat for the Treatment of CLN3 Disease
Intravitreal ERT to Prevent Retinal Disease Progression in Children With CLN2
Caregiving Networks Across Disease Context and the Life Course: a Comparative Longitudinal Study
CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses
The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
Automated Retinal Layer Segmentation in CLN2-Associated Disease: Commercially Available Software Characterizing a Progressive Maculopathy
An Unusual Presentation of CLN3-Associated Batten Disease With Classic Histopathologic and Ultrastructural Findings
Optic-to-Audio Device in a Pediatric Cohort With CLN3-related Conditions or Low Vision
CLN3, at the crossroads of endocytic trafficking
An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy
Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View
Corrigendum: Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties
Neuronal Ceroid Lipofuscinoses in Children
Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
Ocular Manifestations of Neuronal Ceroid Lipofuscinoses
Preclinical developments of treatment options for retinal dystrophy in neuronal ceroid lipofuscinosis
Therapeutic accessibility of the retina in systemic immunomodulatory approaches in mouse models for neuronal ceroid lipofuscinosis : Comments on Bartsch et al., Der Ophthalmologe 02/2021
Juvenile Batten disease: A diagnostic conundrum
THE neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo-lysosomal dynamics and dendritic morphology
Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa
Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)
Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report
Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease
The converging roles of Batten disease proteins in neurodegeneration and cancer
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis
A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses
Trehalose in Subjects With Neuronal Ceroid Lipofuscinoses
Hyperlipofuscinosis With Subretinal Fibrosis and Choroidal Vascular Remodeling in Stargardt Disease
Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten’s disease (CLN3 disease)
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
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort
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
Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort
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
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
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
A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation
BTV-14 Infection in Sheep Elicits Viraemia with Mild Clinical Symptoms
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis
Long-Term Follow Up of CLN6 Batten Disease Subjects Following Gene Transfer
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
Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease
A Natural History Study of Late Infantile Variant CLN5 And CLN7 Disease
Gene Therapy for Children With CLN3 Batten Disease
Longitudinal Study of Neurodegenerative Disorders
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis

Natural History of Neuronal Ceroid Lipofuscinosis, Batten’s CLN6 Diseae
Gene Therapy for Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease
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
Inherited Retinal Degenerative Disease Registry
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Clinical and Neuropsychological Investigations in Batten Disease
Rare Disease Patient Registry & Natural History Study – Coordination of Rare Diseases at Sanford
Human Placental-Derived Stem Cell Transplantation
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