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Batten disease
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Publications and studies (974)
- 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 6 late infantile variant in two compound heterozygous siblings with novel mutations]. (2021/11/16) ♡
- Physical Activity, Mental Health and Wellbeing during the First COVID-19 Containment in New Zealand: A Cross-Sectional Study. (2021/11/16) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Brain transcriptome analysis of a CLN2 mouse model as a function of disease progression. (2021/11/08) ♡
- Successful Treatment of Vitiligo with Cold Atmospheric Plasma‒Activated Hydrogel. (2021/11/01) ♡
- 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. Use of the self- and family management framework and implications for further development. (2021/11/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A diagnostic confidence scheme for CLN3 disease. (2021/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation. (2021/11/01) ♡
- 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. Gait phenotype in Batten disease: A marker of disease progression. (2021/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial commentary on "Gait phenotype in Batten disease: A marker of disease progression". (2021/11/01) ♡
- Automatic Multi-Stain Registration of Whole Slide Images in Histopathology. (2021/11/01) ♡
- Batten's Disease: A Seizure Disorder's Battle for Diagnosis. (2021/11/01) ♡
- Development of a Novel Loop Mediated Isothermal Amplification Assay (LAMP) for the Rapid Detection of Epizootic Haemorrhagic Disease Virus. (2021/10/29) ♡
- Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis. (2021/10/20) ♡
- 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 Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses. (2021/10/18) ♡
- Motopsin deficiency imparts partial insensitivity to doxorubicin-induced hippocampal impairments in adult mice. (2021/10/15) ♡
- 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. Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses. (2021/10/15) ♡
- A survival analysis of ventricular access devices for delivery of cerliponase alfa. (2021/10/08) ♡
- Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype. (2021/10/07) ♡
- 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 Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord. (2021/10/06) ♡
- 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. Ocular Manifestations of Neuronal Ceroid Lipofuscinoses. (2021/10/03) ♡
- The neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo-lysosomal dynamics and dendritic morphology. (2021/10/01) ♡
- Analysis of cathepsin B and cathepsin L treatment to clear toxic lysosomal protein aggregates in neuronal ceroid lipofuscinosis. (2021/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease. (2021/10/01) ♡
- CLN6 deficiency causes selective changes in the lysosomal protein composition. (2021/10/01) ♡
- Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement. (2021/09/27) ♡
- CLN3, at the crossroads of endocytic trafficking. (2021/09/25) ♡
- African swine fever virus genotype II in Mongolia, 2019. (2021/09/01) ♡
- 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. Animal medical genetics: a historical perspective on more than 50 years of research into genetic disorders of animals at Massey University. (2021/09/01) ♡
- 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. Dose selection for intracerebroventricular cerliponase alfa in children with CLN2 disease, translation from animal to human in a rare genetic disease. (2021/09/01) ♡
- Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis. (2021/09/01) ♡
- An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy. (2021/09/01) ♡
- Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis. (2021/09/01) ♡
- Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. (2021/08/19) ♡
- 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. Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases. (2021/08/18) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report. (2021/08/01) ♡
- 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 microbiological assay. (2021/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder. (2021/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa. (2021/08/01) ♡
- Regulated control of gene therapies by drug-induced splicing. (2021/08/01) ♡
- Serological Cross-Reactions between Expressed VP2 Proteins from Different Bluetongue Virus Serotypes. (2021/07/26) ♡
- Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment. (2021/07/20) ♡
- Aberrant Autophagy Impacts Growth and Multicellular Development in a Dictyostelium Knockout Model of CLN5 Disease. (2021/07/05) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. In a mouse model of INCL reduced S-palmitoylation of cytosolic thioesterase APT1 contributes to microglia proliferation and neuroinflammation. (2021/07/01) ♡
- 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. Management of CLN1 Disease: International Clinical Consensus. (2021/07/01) ♡
- Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy. (2021/07/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. [Therapeutic accessibility of the retina in systemic immunomodulatory approaches in mouse models for neuronal ceroid lipofuscinosis : Comments on Bartsch et al., Der Ophthalmologe 02/2021]. (2021/07/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. [Preclinical developments of treatment options for retinal dystrophy in neuronal ceroid lipofuscinosis]. (2021/07/01) ♡
- Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay. (2021/07/01) ♡
- Automated Retinal Layer Segmentation in CLN2-Associated Disease: Commercially Available Software Characterizing a Progressive Maculopathy. (2021/07/01) ♡
- 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. Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View. (2021/06/25) ♡
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