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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)

• Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. (2020/09/01) ♡
• Interrater agreement of classification of photoparoxysmal electroencephalographic response. (2020/09/01) ♡
• An iPSC-Derived Neuron Model of CLN3 Disease Facilitates Small Molecule Phenotypic Screening. (2020/09/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association. (2020/08/31) ♡
• Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3. (2020/08/21) ♡
• Towards a Sampling Rationale for African Swine Fever Virus Detection in Pork Products. (2020/08/20) ♡
• 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. The effects of recreational cannabis use on glycemic outcomes and self-management behaviours in people with type 1 and type 2 diabetes: a rapid review. (2020/08/17) ♡
• Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6. (2020/08/05) ♡
• Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India. (2020/08/04) ♡
• A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. (2020/08/03) ♡
• Diagnosis of late-infantile neuronal ceroid lipofuscinosis using dried blood spot-based assay for TPPI enzyme activity: TPPI diagnostic assay from DBS. (2020/08/01) ♡
• Neuronal ceroid lipofuscinosis type 2: an Australian case series. (2020/08/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings. (2020/08/01) ♡
• A qualitative study of health-care experiences and challenges faced by ageing homebound adults. (2020/08/01) ♡
• Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis. (2020/08/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Imaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease). (2020/07/25) ♡
• Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. (2020/07/15) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial: Role of Protein Palmitoylation in Synaptic Plasticity and Neuronal Differentiation. (2020/07/09) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project. (2020/07/06) ♡
• Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease. (2020/07/01) ♡
• 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 in the Russian population: Two novel mutations and the prevalence of heterozygous carriers. (2020/07/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease. (2020/07/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A tailored Cln3(Q352X) mouse model for testing therapeutic interventions in CLN3 Batten disease. (2020/06/29) ♡
• BTV-14 Infection in Sheep Elicits Viraemia with Mild Clinical Symptoms. (2020/06/13) ♡
• The CLN3 Disease Staging System: A new tool for clinical research in Batten disease. (2020/06/09) ♡
• Diversity of Transmission Outcomes Following Co-Infection of Sheep with Strains of Bluetongue Virus Serotype 1 and 8. (2020/06/05) ♡
• A Resampling Based Grid Search Method to Improve Reliability and Robustness of Mixture-Item Response Theory Models of Multimorbid High-Risk Patients. (2020/06/01) ♡
• Mfsd8 localizes to endocytic compartments and influences the secretion of Cln5 and cathepsin D in Dictyostelium. (2020/06/01) ♡
• Batten disease and perioperative complications: a retrospective descriptive study. (2020/06/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A multimodal approach to identify clinically relevant biomarkers to comprehensively monitor disease progression in a mouse model of pediatric neurodegenerative disease. (2020/06/01) ♡
• Biventricular diastolic dysfunction, thrombocytopenia, and red blood cell macrocytosis in experimental pulmonary arterial hypertension. (2020/05/26) ♡
• 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 networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum. (2020/05/20) ♡
• Extracellular Vesicles as Drug Carriers for Enzyme Replacement Therapy to Treat CLN2 Batten Disease: Optimization of Drug Administration Routes. (2020/05/20) ♡
• Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses. (2020/05/14) ♡
• 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 pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5. (2020/05/11) ♡
• Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis. (2020/05/01) ♡
• The effect of the economic collapse in Iceland on the probability of cardiovascular events. (2020/05/01) ♡
• 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 Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation. (2020/05/01) ♡
• "Frozen evolution" of an RNA virus suggests accidental release as a potential cause of arbovirus re-emergence. (2020/04/28) ♡
• Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis. (2020/04/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Red flags for neuronal ceroid lipofuscinosis type 2 disease. (2020/04/01) ♡
• 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. Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2. (2020/04/01) ♡
• Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy. (2020/04/01) ♡
• Characterisation of Peste Des Petits Ruminants Disease in Pastoralist Flocks in Ngorongoro District of Northern Tanzania and Bluetongue Virus Co-Infection. (2020/03/31) ♡
• CLN3 regulates endosomal function by modulating Rab7A-effector interactions. (2020/03/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy. (2020/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. N-of-1 drugs push biopharma frontiers. (2020/03/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. My Pathway to Gene Therapy. (2020/03/01) ♡
• 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. Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression. (2020/02/25) ♡
• Aggregation of mutant cysteine string protein-α via Fe-S cluster binding is mitigated by iron chelators. (2020/02/01) ♡

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