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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)

• Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry. (2021/01/01) ♡
• 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. Impaired autophagy: The collateral damage of lysosomal storage disorders. (2021/01/01) ♡
• Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort. (2021/01/01) ♡
• CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses. (2021/01/01) ♡
• 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. Antisense Oligonucleotide Therapy for Neurodevelopmental Disorders. (2021/01/01) ♡
• [Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family]. (2021/01/01) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)(1). (2021/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Retrospective, Natural History Study in Children With CLN2 (2021-11-01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. An Observational Study in Children With CLN2 Batten Disease (2021-11-01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database (2021-10-29) ♡
• 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. Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) (2021-02-02) ♡
• Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses. (2020/12/31) ♡
• Protein Delivery by Peptide-Based Stealth Liposomes: A Biomolecular Insight into Enzyme Replacement Therapy. (2020/12/07) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2. (2020/12/02) ♡
• An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease. (2020/12/01) ♡
• Pediatric Neurology Research in the Twenty-First Century: Status, Challenges, and Future Directions Post-COVID-19. (2020/12/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Batten disease: an expert update on agents in preclinical and clinical trials. (2020/12/01) ♡
• 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. Extracellular Vesicle-Based Therapeutics: Preclinical and Clinical Investigations. (2020/12/01) ♡
• Risk-based surveillance for bluetongue virus in cattle on the south coast of England in 2017 and 2018. (2020/11/28) ♡
• Identification of novel testing matrices for African swine fever surveillance. (2020/11/01) ♡
• Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial. (2020/11/01) ♡
• 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. Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease. (2020/10/29) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Sex- and region-biased depletion of microglia/macrophages attenuates CLN1 disease in mice. (2020/10/28) ♡
• Simultaneous Detection of Bluetongue Virus Serotypes Using xMAP Technology. (2020/10/11) ♡
• Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium. (2020/10/01) ♡
• Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses. (2020/10/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical sensitivity and interpretation of PCR and serological COVID-19 diagnostics for patients presenting to the hospital. (2020/10/01) ♡
• Correction to: Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum. (2020/09/21) ♡
• Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease. (2020/09/16) ♡
• 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. Endosomal Trafficking in Alzheimer's Disease, Parkinson's Disease, and Neuronal Ceroid Lipofuscinosis. (2020/09/14) ♡
• Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis. (2020/09/02) ♡
• 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. Overview of advances in educational and social supports for young persons with NCL disorders. (2020/09/01) ♡
• 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. Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses. (2020/09/01) ♡
• 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. Pharmacological approaches to tackle NCLs. (2020/09/01) ♡
• 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. Cellular models of Batten disease. (2020/09/01) ♡
• 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. Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. (2020/09/01) ♡
• 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. Pathomechanisms in the neuronal ceroid lipofuscinoses. (2020/09/01) ♡
• 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 contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research. (2020/09/01) ♡
• 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. Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity. (2020/09/01) ♡
• 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. Experimental gene therapies for the NCLs. (2020/09/01) ♡
• 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. Contribution of patient organisations to the NCLs. (2020/09/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Cln1-mutations suppress Rab7-RILP interaction and impair autophagy contributing to neuropathology in a mouse model of infantile neuronal ceroid lipofuscinosis. (2020/09/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Special edition: The NCLs/Batten disease. (2020/09/01) ♡
• Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis. (2020/09/01) ♡
• Humoral and circulating follicular helper T cell responses in recovered patients with COVID-19. (2020/09/01) ♡
• Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. (2020/09/01) ♡
• Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease. (2020/09/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Exon skipping combats Batten disease. (2020/09/01) ♡
• MRI in CLN2 disease patients: Subtle features that support an early diagnosis. (2020/09/01) ♡
• Development of a qualitative real-time RT-PCR assay for the detection of SARS-CoV-2: A guide and case study in setting up an emergency-use, laboratory-developed molecular assay. (2020/09/01) ♡

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