• <em>CLN3</em>-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C
• A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis
• A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy
• A Homozygous <em>MAN2B1</em> Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency
• A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1
• A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease
• A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease
• A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes
• A recessive <em>CLN3</em> variant is responsible for delayed-onset retinal degeneration in Hereford cattle
• Acidified drinking water improves motor function, prevents tremors and changes disease trajectory in Cln2(R207X) mice, a model of late infantile Batten disease
• Acidified drinking water improves motor function, prevents tremors and changes disease trajectory in Cln2^R207X mice, a model of late infantile Batten disease
• Activation of PPARalpha Exhibits Therapeutic Efficacy in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
• Activation of PPARα Exhibits Therapeutic Efficacy in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
• Adult-onset Kufs disease
• An innovative hematopoietic stem cell gene therapy approach benefits CLN1 disease in the mouse model
• Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome
• Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)
• Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten Disease
• Batten Disease (Juvenile Neuronal Ceroid Lipofuscinosis)
• Batten disease through different in vivo and in vitro models: A review
• Brain proton MR spectroscopy measurements in CLN3 disease
• Cerebrospinal Fluid Protein Biomarker Discovery in CLN3
• Cerliponase alfa and neuronal ceroid lipofuscinosis type 2: long-term outcomes and lessons for future research
• Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy
• Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
• Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease)
• Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations
• Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations
• Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
• Clinical characteristics and genetic analysis of a case with adult neuronal ceroid lipofuscinosis type 7 due to variant of MFSD8 gene
• Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with Type diabetes mellitus
• Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus
• Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group
• CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing
• CLN3 deficiency leads to neurological and metabolic perturbations during early development
• Converging links between adult-onset neurodegenerative Alzheimer's disease and early life neurodegenerative neuronal ceroid lipofuscinosis?
• Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease
• Dem-Aging: autophagy-related pathologies and the "two faces of dementia"
• Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease
• Developmental Skills and Neurorehabilitation for Children With Batten Disease: A Retrospective Chart Review of a Comprehensive Batten Clinic
• Disruption of lysosomal nutrient sensing scaffold contributes to pathogenesis of a fatal neurodegenerative lysosomal storage disease
• Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging
• Economic analysis of cerliponase alfa for treatment of late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2)
• Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain
• Enzyme replacement therapy for CLN2 disease: MRI volumetry shows significantly slower volume loss compared to a natural history cohort
• Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy
• Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data
• Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease
• First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy
• Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease
• Haploidentical haematopoietic stem cell transplantation combined with post-transplant cyclophosphamide in neuronal ceroid lipofuscinosis: Experience in eight patients
• High Prevalence of Movement Disorder in Treated CLN2-Batten Disease: Rare Disease Therapy Development Must Not Stop With Approved Treatment
• In response: Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening
• Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses
• Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis
• Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2
• Intravitreal enzyme replacement for inherited retinal diseases
• Intravitreal gene therapy preserves retinal function in a canine model of CLN2 neuronal ceroid lipofuscinosis
• L116 Deletion in CSPα Promotes α-Synuclein Aggregation and Neurodegeneration
• Lafora Disease
• Lafora Disease
• Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
• Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in <em>MFSD8</em>
• Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
• Loss of Depalmitoylation Disrupts Homeostatic Plasticity of AMPARs in a Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis
• Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation
• Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons
• Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model
• Mechanisms regulating the intracellular trafficking and release of CLN5 and CTSD
• Mechanistic Insights into <em>S</em>-Depalmitolyse Activity of Cln5 Protein Linked to Neurodegeneration and Batten Disease: A QM/MM Study
• Mechanistic Insights into S-Depalmitolyse Activity of Cln5 Protein Linked to Neurodegeneration and Batten Disease: A QM/MM Study
• Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis
• Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in a Murine Model
• Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease
• Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening
• Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills
• Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6
• Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6
• Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature
• Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease
• OCT Biomarkers in Ocular CLN2 Disease in Patients Treated With Intraventricular Enzyme Replacement Therapy
• Peripheral retinal finding on fluorescein angiography in neuronal ceroid lipofuscinosis type 2 (CLN2)
• Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil
• Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis
• Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
• Progressive Visual Loss Is Not Always Accompanied by Neurodegenerative Disorder in Juvenile Neuronal Ceroid Lipofuscinosis: A Case Report
• Recent insights into the networking of CLN genes and proteins in mammalian cells
• Recognition and epileptology of protracted CLN3 disease
• Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
• SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders
• Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model
• Teaching NeuroImage: Low-Frequency Photoparoxysmal Response in a Patient With Neuronal Ceroid Lipofuscinosis Type 2
• The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase
• The Batten disease protein CLN3 is important for stress granules dynamics and translational activity
• The conserved cellular roles of CLN proteins: Novel insights from Dictyostelium discoideum
• The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis
• The parent and family impact of CLN3 disease: an observational survey-based study
• Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses
• Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease)
• TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells