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Batten disease

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

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)

• Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics. (2017/04/01) ♡
• Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. (2017/04/01) ♡
• 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. Management Strategies for CLN2 Disease. (2017/04/01) ♡
• Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease. (2017/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. (2017/03/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. (2017/03/01) ♡
• mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases. (2017/02/06) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. (2017/02/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. (2017/02/01) ♡
• Decreased sensitivity of palmitoyl protein thioesterase 1-deficient neurons to chemical anoxia. (2017/02/01) ♡
• MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis. (2017/02/01) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Mouse models of kufor-rakeb disease link Parkinson's disease closer to neuronal ceroid lipofuscinosis, suggesting lysosomal dysfunction as shared mechanism. (2017/02/01) ♡
• A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. (2017/01/31) ♡
• 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. Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2. (2017/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis. (2017/01/01) ♡
• Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1. (2017/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Stem Cell Transplant for Inborn Errors of Metabolism (2017-12-28) ♡
• CLN8 disease caused by large genomic deletions. (2016/11/23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis (2016-10-27) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Genotype - Phenotype Correlations of LINCL (2016-07-29) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities (2016-07-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Collection of Cerebrospinal Fluid in Healthy Children (2016-05-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) (2015-01-15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis (2015-01-15) ♡

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