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Rare and hereditary disorders
Batten disease
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Publications and studies (974)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Optic-to-Audio Device in a Pediatric Cohort With CLN3-related Conditions or Low Vision (2024-10-23) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Does Batten Grafting Improve Nasal Outcomes in Septoplasty and Turbinate Reduction? (2024-09-20) ♡
- Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Gene Therapy Study for Children With CLN5 Batten Disease (2024-08-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Natural History Study of Neuronal Ceroid Lipofuscinosis Type 5 (CLN5) (2024-06-27) ♡
- Feasibility of home administration of nebulised interferon ß-1a (SNG001) for COVID-19: a remote study. (2023/12/19) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Molecular Mechanisms Linking Diabetes with Increased Risk of Thrombosis. (2023/12/14) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Loss of Depalmitoylation Disrupts Homeostatic Plasticity of AMPARs in a Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis. (2023/12/06) ♡
- Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis? (2023/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. TUNEL-positive structures in activated microglia and SQSTM1/p62-positive structures in activated astrocytes in the neurodegenerative brain of a CLN10 mouse model. (2023/12/01) ♡
- Loss of mfsd8 alters the secretome during Dictyostelium aggregation. (2023/12/01) ♡
- CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing. (2023/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses. (2023/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases. (2023/11/27) ♡
- Noradrenaline tracks emotional modulation of attention in human amygdala. (2023/11/20) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus. (2023/11/08) ♡
- Acidified drinking water improves motor function, prevents tremors and changes disease trajectory in Cln2(R207X) mice, a model of late infantile Batten disease. (2023/11/06) ♡
- Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease. (2023/10/29) ♡
- Efficacy of dual intracerebroventricular and intravitreal CLN5 gene therapy in sheep prompts the first clinical trial to treat CLN5 Batten disease. (2023/10/24) ♡
- Timing of introduction to solid food, eczema and wheezing in later childhood: a longitudinal cohort study. (2023/10/16) ♡
- Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease). (2023/10/01) ♡
- Late Mortality After COVID-19 Infection Among US Veterans vs Risk-Matched Comparators: A 2-Year Cohort Analysis. (2023/10/01) ♡
- Overall Survival Differences in Young Black Colorectal Cancer Patients: a Report from the National Cancer Database. (2023/09/25) ♡
- Sortilin inhibition treats multiple neurodegenerative lysosomal storage disorders. (2023/09/22) ♡
- Complete genome of a 2014 isolate of peste des petits ruminants virus from Ethiopia. (2023/09/19) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Discrepancies between media portrayals and actual demographics of eating disorders in TV and film: implications of representation. (2023/09/18) ♡
- The Batten disease gene product CLN5 is the lysosomal bis(monoacylglycero)phosphate synthase. (2023/09/15) ♡
- Towards In Silico Identification of Genes Contributing to Similarity of Patients' Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia. (2023/09/13) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease). (2023/09/12) ♡
- The evaluation of five serological assays in determining seroconversion to peste des petits ruminants virus in typical and atypical hosts. (2023/09/08) ♡
- Late preterm birth and growth trajectories during childhood: a linked retrospective cohort study. (2023/09/08) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Exercise testing and prescription in patients with inborn errors of muscle energy metabolism. (2023/09/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis. (2023/09/01) ♡
- Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten Disease. (2023/09/01) ♡
- A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency. (2023/08/31) ♡
- 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). (2023/08/17) ♡
- Long-term safety and dose escalation of intracerebroventricular CLN5 gene therapy in sheep supports clinical translation for CLN5 Batten disease. (2023/08/08) ♡
- The Effect of Temperature on the Stability of African Swine Fever Virus BA71V Isolate in Environmental Water Samples. (2023/08/08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Conventional Frailty Index Does Not Predict Risk of Postoperative Complications in Patients With IBD: A Multicenter Cohort Study. (2023/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. In response: Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening. (2023/08/01) ♡
- Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations. (2023/08/01) ♡
- SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders. (2023/08/01) ♡
- Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain. (2023/08/01) ♡
- A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes. (2023/08/01) ♡
- Teaching NeuroImage: Low-Frequency Photoparoxysmal Response in a Patient With Neuronal Ceroid Lipofuscinosis Type 2. (2023/07/25) ♡
- Cerebrospinal Fluid Protein Biomarker Discovery in CLN3. (2023/07/07) ♡
- Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation. (2023/07/03) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Converging links between adult-onset neurodegenerative Alzheimer's disease and early life neurodegenerative neuronal ceroid lipofuscinosis? (2023/07/01) ♡
- Recognition and epileptology of protracted CLN3 disease. (2023/07/01) ♡
- A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1. (2023/07/01) ♡
- Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease). (2023/07/01) ♡
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