← All diseases
Rare and hereditary disorders
Batten disease
Do you want to be notified when there is new research about Batten Disease? This is possible with an account. Create a free account or log in.
Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence
Read in plain language what each study is about? With Premium, a single sentence appears above each publication explaining what was investigated — and you'll be notified as soon as new research on Batten disease is available. View what Premium costs.
Publications and studies (974)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Visual perception and macular integrity in non-classical CLN2 disease. (2022/11/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Sex bias and omission exists in Batten disease research: Systematic review of the use of animal disease models. (2022/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand. (2022/11/01) ♡
- Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics. (2022/11/01) ♡
- Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update. (2022/10/29) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep. (2022/10/17) ♡
- Neuropsychological decrements in midlife type-2 diabetes are not associated with peripheral NLRP3 inflammasome responsiveness. (2022/10/13) ♡
- Natural history of MRI brain volumes in patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging biomarker. (2022/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Therapeutic Management of COVID-19 in a Pediatric Patient with Neurodegenerative CLN2 Disease and ICV-Enzyme Replacement Therapy: A Case Report. (2022/10/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Natural history of MRI brain volumes in patients with neuronal ceroid lipofuscinosis 3: a sensitive imaging biomarker. (2022/10/01) ♡
- A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes. (2022/10/01) ♡
- Congenital Neuronal Ceroid Lipofuscinosis: An Important Cause of Unexplained Seizures in Newborns. (2022/09/15) ♡
- 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. Neurodegenerative Lysosomal Storage Disorders: TPC2 Comes to the Rescue! (2022/09/08) ♡
- TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease. (2022/09/07) ♡
- Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system. (2022/09/01) ♡
- Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience. (2022/09/01) ♡
- Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort. (2022/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators. (2022/09/01) ♡
- Provoked seizures at the onset of progressive disease contribute to diagnosis delay - A tertiary center experience in a cohort of 22 children with CLN2. (2022/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7. (2022/09/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Provoked seizures might lead to a significant diagnosis delay in CLN2. (2022/09/01) ♡
- CLN3 is required for the clearance of glycerophosphodiesters from lysosomes. (2022/09/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report. (2022/08/22) ♡
- 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. Serine-Carboxyl Peptidases, Sedolisins: From Discovery to Evolution. (2022/08/16) ♡
- 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. Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview. (2022/08/12) ♡
- The Acquisition and Retention of Lumpy Skin Disease Virus by Blood-Feeding Insects Is Influenced by the Source of Virus, the Insect Body Part, and the Time since Feeding. (2022/08/10) ♡
- KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. (2022/08/05) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses. (2022/08/05) ♡
- A man with epilepsy, bradykinesia, and cognitive decline. (2022/08/01) ♡
- 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. Recent Synergy of Nanodiamonds: Role in Brain-Targeted Drug Delivery for the Management of Neurological Disorders. (2022/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Neuronal ceroid lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a Maghrebian series. (2022/08/01) ♡
- Field-Reassortment of Bluetongue Virus Illustrates Plasticity of Virus Associated Phenotypic Traits in the Arthropod Vector and Mammalian Host In Vivo. (2022/07/13) ♡
- Lack of Cathepsin D in the central nervous system results in microglia and astrocyte activation and the accumulation of proteinopathy-related proteins. (2022/07/08) ♡
- Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation. (2022/07/06) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Effects of chronic cannabidiol in a mouse model of naturally occurring neuroinflammation, neurodegeneration, and spontaneous seizures. (2022/07/04) ♡
- A novel strain of lumpy skin disease virus causes clinical disease in cattle in Hong Kong. (2022/07/01) ♡
- Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs. (2022/07/01) ♡
- Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease. (2022/07/01) ♡
- Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy. (2022/07/01) ♡
- Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease. (2022/07/01) ♡
- Glycerophosphoinositol is Elevated in Blood Samples From CLN3 (Δex7-8) pigs, Cln3 (Δex7-8) Mice, and CLN3-Affected Individuals. (2022/06/19) ♡
- Mfsd8 Modulates Growth and the Early Stages of Multicellular Development in Dictyostelium discoideum. (2022/06/09) ♡
- Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease. (2022/06/04) ♡
- Estimated Prevalence of and Factors Associated With Clinically Significant Anxiety and Depression Among US Adults During the First Year of the COVID-19 Pandemic. (2022/06/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Acidified drinking water attenuates motor deficits and brain pathology in a mouse model of a childhood neurodegenerative disorder. (2022/05/30) ♡
- Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment. (2022/05/25) ♡
- 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. Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis. (2022/05/20) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia. (2022/05/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Phenotypic variant of CLN3 mutation. (2022/05/15) ♡
- 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. New Indications for Hematopoietic Stem Cell Gene Therapy in Lysosomal Storage Disorders. (2022/05/13) ♡
codex.care does not provide medical advice. Always discuss symptoms, medication, and treatment choices with your own healthcare provider.