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Batten disease

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchStrongest evidence only (29)Meta-analysis (6)Treatment guideline (3)Systematic review (10)Randomized trial (9)Phase 3 study (1)Clinical trial (58)Review article (128)Early study (phase 1 or 2) (21)Case report (105)Laboratory or animal research (71)Commentary or editorial (35) Studies currently recruiting participants only (24)

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Publications and studies (974)

• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis. (2020/01/01) ♡
• 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. Deep Phenotyping of Parkinson's Disease. (2020/01/01) ♡
• 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. AAVRh.10 Administered to Children With Late Infantile Neuronal Ceroid Lipofuscinosis (2020-08-31) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis (2020-07-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Using NPT to Evaluate Providing PPC as ELNEC-PPC WBT for Nurses (2020-07-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (2020-07-24) ♡
• Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis. (2019/12/30) ♡
• A Systematic Review of Prophylactic Anticoagulation in Nephrotic Syndrome. (2019/12/12) ♡
• Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery. (2019/12/09) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Fly model sheds light on brain disease. (2019/12/06) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. (2019/12/01) ♡
• Circulation of a community healthcare-associated multiply-resistant meticillin-resistant Staphylococcus aureus lineage in South Yorkshire identified by whole genome sequencing. (2019/12/01) ♡
• A rapid RT-LAMP assay for the detection of all four lineages of Peste des Petits Ruminants Virus. (2019/12/01) ♡
• Improved PCR diagnostics using up-to-date in silico validation: An F-gene RT-qPCR assay for the detection of all four lineages of peste des petits ruminants virus. (2019/12/01) ♡
• 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. The CLN3 gene and protein: What we know. (2019/12/01) ♡
• Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis. (2019/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. (2019/12/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Neurofilament light is a treatment-responsive biomarker in CLN2 disease. (2019/12/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis. (2019/12/01) ♡
• Predicting novel genomic regions linked to genetic disorders using GWAS and chromosome conformation data - a case study of schizophrenia. (2019/11/29) ♡
• An Autophagy Modifier Screen Identifies Small Molecules Capable of Reducing Autophagosome Accumulation in a Model of CLN3-Mediated Neurodegeneration. (2019/11/27) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. News Feature: Gene therapy successes point to better therapies. (2019/11/26) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Loss of motoric function in a three-year-old boy with lysosomal storage disease]. (2019/11/04) ♡
• Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. (2019/11/01) ♡
• Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease. (2019/11/01) ♡
• 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. Positron Emission Tomography in Pediatric Neurodegenerative Disorders. (2019/11/01) ♡
• Analysis of Brain and Cerebrospinal Fluid from Mouse Models of the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Changes in the Lysosomal Proteome. (2019/11/01) ♡
• Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene. (2019/11/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism. (2019/10/30) ♡
• The neuronal ceroid lipofuscinosis protein Cln7 functions in the postsynaptic cell to regulate synapse development. (2019/10/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. (2019/10/24) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Changes in motor behavior, neuropathology, and gut microbiota of a Batten disease mouse model following administration of acidified drinking water. (2019/10/18) ♡
• Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease. (2019/10/02) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease. (2019/10/01) ♡
• The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis. (2019/10/01) ♡
• A novel, hybrid, single- and multi-site clinical trial design for CLN3 disease, an ultra-rare lysosomal storage disorder. (2019/10/01) ♡
• Detection of a novel reassortant epizootic hemorrhagic disease virus serotype 6 in cattle in Trinidad, West Indies, containing nine RNA segments derived from exotic EHDV strains with an Australian origin. (2019/10/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Loss of Cln5 leads to altered Gad1 expression and deficits in interneuron development in mice. (2019/10/01) ♡
• 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. Gene-Based Approaches to Inherited Neurometabolic Diseases. (2019/10/01) ♡
• 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 best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. (2019/10/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neuronal ceroid lipofuscinosis with cardiac involvement. (2019/10/01) ♡
• Combined Anti-inflammatory and Neuroprotective Treatments Have the Potential to Impact Disease Phenotypes in Cln3 (-/-) Mice. (2019/09/11) ♡
• High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses. (2019/09/03) ♡
• Batten's disease presenting as visual loss in twins. (2019/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family. (2019/09/01) ♡
• Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. (2019/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. (2019/09/01) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Agreement between actigraphic and polysomnographic measures of sleep in adults with and without chronic conditions: A systematic review and meta-analysis. (2019/08/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): A protocol for a sham-controlled clinical trial. (2019/08/01) ♡
• Rapid Detection of Peste des Petits Ruminants Virus (PPRV) Nucleic Acid Using a Novel Low-Cost Reverse Transcription Loop-Mediated Isothermal Amplification (RT-LAMP) Assay for Future Use in Nascent PPR Eradication Programme. (2019/07/31) ♡

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