Disease: Ceroid storage disease
- A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis
- 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 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<sup>R207X</sup> mice, a model of late infantile Batten disease
- 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
- 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
- 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"
- 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
- Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain
- Examining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer's Disease
- Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten 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
- 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
- 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
- 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
- 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
- Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease
- 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
- Peripheral retinal finding on fluorescein angiography in neuronal ceroid lipofuscinosis type 2 (CLN2)
- 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
- 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
- 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 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)