• 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
• Akap5 links synaptic dysfunction to neuroinflammatory signaling in a mouse model of infantile neuronal ceroid lipofuscinosis
• 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 CLN<em>3</em> disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): An auditory evoked potential study of the duration-evoked mismatch negativity (MMN)
• 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)
• 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
• 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 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
• Dem-Aging: autophagy-related pathologies and the "two faces of dementia"
• Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
• 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
• Disruption of lysosomal nutrient sensing scaffold hyperactivates mTORC1 contributing to pathogenesis of a fatal neurodegenerative disease
• Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics
• 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
• Examining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer's Disease
• 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
• Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease
• 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
• Homozygous <em>CNP</em> Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions
• Identification of New Modulators and Inhibitors of Palmitoyl-Protein Thioesterase 1 for CLN1 Batten Disease and Cancer
• 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
• Intravitreal enzyme replacement for inherited retinal diseases
• Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease
• L116 Deletion in CSPα Promotes α-Synuclein Aggregation and Neurodegeneration
• Lafora Disease
• Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
• 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
• Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats
• 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
• 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
• Progranulin deficiency results in sex-dependent alterations in microglia in response to demyelination
• 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
• Recognition and epileptology of protracted CLN3 disease
• Reduction of neuroinflammation and seizures in a mouse model of CLN1 batten disease using the small molecule enzyme mimetic, N-Tert-butyl hydroxylamine
• 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 involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis
• The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in Ukraine
• The parent and family impact of CLN3 disease: an observational survey-based study
• 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
• Upregulation of peroxisome proliferator-activated receptor gamma with resorcinol alleviates reactive oxygen species generation and lipid accumulation in neuropathic lysosomal storage diseases