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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)

• Motor function impairment is an early sign of CLN3 disease. (2019/07/16) ♡
• Progranulin deficiency leads to reduced glucocerebrosidase activity. (2019/07/10) ♡
• CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease). (2019/07/09) ♡
• Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy. (2019/07/01) ♡
• Clinical Validation of a Cell-Free DNA Gene Panel. (2019/07/01) ♡
• 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. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation. (2019/07/01) ♡
• Children with Tourette Syndrome in the United States: Parent-Reported Diagnosis, Co-Occurring Disorders, Severity, and Influence of Activities on Tics. (2019/07/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Genetic study of a family of neuronal ceroid lipofuscinosis caused by a heterozygous mutation of CLN6 gene]. (2019/06/25) ♡
• Bluetongue virus outer-capsid protein VP2 expressed in Nicotiana benthamiana raises neutralising antibodies and a protective immune response in IFNAR (-/-) mice. (2019/06/22) ♡
• Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking. (2019/06/14) ♡
• [Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]. (2019/06/02) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Considerations in multi-gene panel testing in pediatric ophthalmology. (2019/06/01) ♡
• Comparative transcriptomics reveals mechanisms underlying cln3-deficiency phenotypes in Dictyostelium. (2019/06/01) ♡
• Prevalence and Cellular Distribution of Novel Immune Checkpoint Targets Across Longitudinal Specimens in Treatment-naïve Melanoma Patients: Implications for Clinical Trials. (2019/06/01) ♡
• 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. The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. (2019/06/01) ♡
• 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 type-11 in an adolescent. (2019/06/01) ♡
• TPP1 Delivery to Lysosomes with Extracellular Vesicles and their Enhanced Brain Distribution in the Animal Model of Batten Disease. (2019/06/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Modulation of CRMP2 via (S)-Lacosamide shows therapeutic promise but is ultimately ineffective in a mouse model of CLN6-Batten disease. (2019/06/01) ♡
• Modelling of Neuronal Ceroid Lipofuscinosis Type 2 in Dictyostelium discoideum Suggests That Cytopathological Outcomes Result from Altered TOR Signalling. (2019/05/16) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Rapidly Progressing Brain Atrophy in a Child With Developmental Regression. (2019/05/01) ♡
• Evidence of reduced viremia, pathogenicity and vector competence in a re-emerging European strain of bluetongue virus serotype 8 in sheep. (2019/05/01) ♡
• 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. Emerging links between pediatric lysosomal storage diseases and adult parkinsonism. (2019/05/01) ♡
• Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease. (2019/05/01) ♡
• Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan. (2019/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. (2019/05/01) ♡
• 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 mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. (2019/05/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis. (2019/04/25) ♡
• Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α. (2019/04/16) ♡
• Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. (2019/04/16) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Developmental NMDA receptor dysregulation in the infantile neuronal ceroid lipofuscinosis mouse model. (2019/04/04) ♡
• 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 and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses. (2019/04/01) ♡
• MFSD8 gene mutations; evidence for phenotypic heterogeneity. (2019/04/01) ♡
• Caspase 1 activity influences juvenile Batten disease (CLN3) pathogenesis. (2019/03/01) ♡
• Astrocytes in juvenile neuronal ceroid lipofuscinosis (CLN3) display metabolic and calcium signaling abnormalities. (2019/03/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Progranulin Stimulates the In Vitro Maturation of Pro-Cathepsin D at Acidic pH. (2019/03/01) ♡
• Lysosomal storage disorders: pathology within the lysosome and beyond. (2019/03/01) ♡
• 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. Therapeutic landscape for Batten disease: current treatments and future prospects. (2019/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype. (2019/02/16) ♡
• 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. Recent Insights into NCL Protein Function Using the Model Organism Dictyostelium discoideum. (2019/02/02) ♡
• The value of metaphorical reasoning in bioethics: An empirical-ethical study. (2019/02/01) ♡
• De-palmitoylation by N-(tert-Butyl) hydroxylamine inhibits AMPAR-mediated synaptic transmission via affecting receptor distribution in postsynaptic densities. (2019/02/01) ♡
• A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival. (2019/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3). (2019/02/01) ♡
• Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels. (2019/02/01) ♡
• 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 mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. (2019/02/01) ♡
• Identification and characterization of epizootic hemorrhagic disease virus serotype 6 in cattle co-infected with bluetongue virus in Trinidad, West Indies. (2019/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pathology in Practice. (2019/02/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Tracking sex-dependent differences in a mouse model of CLN6-Batten disease. (2019/01/21) ♡
• 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. Randomized Phase II Study Evaluating Palbociclib in Addition to Letrozole as Neoadjuvant Therapy in Estrogen Receptor-Positive Early Breast Cancer: PALLET Trial. (2019/01/20) ♡
• Autophagy-lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease. (2019/01/17) ♡

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