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Rare and hereditary disorders
Batten disease
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Publications and studies (974)
- Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). (2019/01/01) ♡
- Increased bioavailability of cyclic guanylate monophosphate prevents retinal ganglion cell degeneration. (2019/01/01) ♡
- Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia. (2019/01/01) ♡
- 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. Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis. (2019/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report. (2019/01/01) ♡
- Evolution of the genomic landscape of circulating tumor DNA (ctDNA) in metastatic prostate cancer over treatment and time. (2019/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model. (2019/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Cellcept for Treatment of Juvenile Neuronal Ceroid Lipofuscinosis (2019-05-21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease (2019-03-08) ♡
- Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients. (2018/12/12) ♡
- 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. Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: Results from a Phase 1/2 study. (2018/12/01) ♡
- CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. (2018/12/01) ♡
- 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. Modulation of Premetastatic Niche by the Vascular Endothelial Growth Factor Receptor Tyrosine Kinase Inhibitor Pazopanib in Localized High-Risk Prostate Cancer Followed by Radical Prostatectomy: A Phase II Randomized Trial. (2018/12/01) ♡
- 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. Lysosomal storage disease overview. (2018/12/01) ♡
- Electrophysiological effects of nicotinic and electrical stimulation of intrinsic cardiac ganglia in the absence of extrinsic autonomic nerves in the rabbit heart. (2018/11/01) ♡
- Discovery of a CLN7 model of Batten disease in non-human primates. (2018/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant. (2018/11/01) ♡
- Paroxysmal sympathetic hyperactivity in Juvenile neuronal ceroid lipofuscinosis (Batten disease). (2018/11/01) ♡
- DMD genomic deletions characterize a subset of progressive/higher-grade meningiomas with poor outcome. (2018/11/01) ♡
- Cln3 function is linked to osmoregulation in a Dictyostelium model of Batten disease. (2018/11/01) ♡
- 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. Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis. (2018/11/01) ♡
- Integrated molecular and immunophenotypic analysis of NK cells in anti-PD-1 treated metastatic melanoma patients. (2018/10/31) ♡
- Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin. (2018/10/29) ♡
- Detection of Infantile Batten Disease by Tandem Mass Spectrometry Assay of PPT1 Enzyme Activity in Dried Blood Spots. (2018/10/16) ♡
- Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease). (2018/10/15) ♡
- Autophagic vacuolar myopathy is a common feature of CLN3 disease. (2018/10/14) ♡
- Longitudinal In Vivo Monitoring of the CNS Demonstrates the Efficacy of Gene Therapy in a Sheep Model of CLN5 Batten Disease. (2018/10/03) ♡
- Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis. (2018/10/01) ♡
- 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 European Virus Archive goes global: A growing resource for research. (2018/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report. (2018/10/01) ♡
- Failure of Autophagy-Lysosomal Pathways in Rod Photoreceptors Causes the Early Retinal Degeneration Phenotype Observed in Cln6nclf Mice. (2018/10/01) ♡
- An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect. (2018/09/28) ♡
- 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 in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report. (2018/09/25) ♡
- Molecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady. (2018/09/25) ♡
- Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage. (2018/09/05) ♡
- Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice. (2018/09/04) ♡
- Differential stimulus control of drug-seeking: multimodal reinstatement. (2018/09/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Tau pathology and neurochemical changes associated with memory dysfunction in an optimised murine model of global cerebral ischaemia - A potential model for vascular dementia? (2018/09/01) ♡
- Author Correction: Transneuronal propagation of mutant huntingtin contributes to non-cell autonomous pathology in neurons. (2018/09/01) ♡
- Computed tomography provides enhanced techniques for longitudinal monitoring of progressive intracranial volume loss associated with regional neurodegeneration in ovine neuronal ceroid lipofuscinoses. (2018/09/01) ♡
- 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 MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report. (2018/08/25) ♡
- Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses. (2018/08/14) ♡
- Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis. (2018/08/08) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Searching for novel biomarkers using a mouse model of CLN3-Batten disease. (2018/08/07) ♡
- Clinical features and genetics studies of Finnish variant late infantile neuronal ceroid lipofuscinosis in two families. (2018/08/02) ♡
- Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers. (2018/08/01) ♡
- Telomerase-Mediated Strategy for Overcoming Non-Small Cell Lung Cancer Targeted Therapy and Chemotherapy Resistance. (2018/08/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Natural history data for childhood neurodegenerative disease. (2018/08/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. (2018/08/01) ♡
- Secretion and function of Cln5 during the early stages of Dictyostelium development. (2018/07/23) ♡
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