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Rare and hereditary disorders
Batten disease
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Publications and studies (974)
- Evaluation of the Efficacy of Commercial Disinfectants against African Swine Fever Virus. (2023/06/21) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach. (2023/06/03) ♡
- 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 long-term ICU patient: Which definition? (2023/06/01) ♡
- Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses. (2023/06/01) ♡
- 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 conserved cellular roles of CLN proteins: Novel insights from Dictyostelium discoideum. (2023/06/01) ♡
- Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging. (2023/06/01) ♡
- Economic analysis of cerliponase alfa for treatment of late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2). (2023/06/01) ♡
- 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. Recent insights into the networking of CLN genes and proteins in mammalian cells. (2023/06/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease. (2023/05/29) ♡
- A Caenorhabditis elegans model of autosomal dominant adult-onset neuronal ceroid lipofuscinosis identifies ethosuximide as a potential therapeutic. (2023/05/18) ♡
- Investigation of the First African Swine Fever Outbreak in a Domestic Pig Farm in Hong Kong. (2023/05/18) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. (2023/05/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening. (2023/05/01) ♡
- Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease. (2023/05/01) ♡
- The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. (2023/05/01) ♡
- Brain proton MR spectroscopy measurements in CLN3 disease. (2023/05/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease. (2023/04/24) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. An innovative hematopoietic stem cell gene therapy approach benefits CLN1 disease in the mouse model. (2023/04/11) ♡
- 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 characteristics and genetic analysis of a case with adult neuronal ceroid lipofuscinosis type 7 due to variant of MFSD8 gene]. (2023/04/10) ♡
- 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 Advances in Research and Management of Human Monkeypox Virus: An Emerging Global Health Threat. (2023/04/10) ♡
- An XAI approach for COVID-19 detection using transfer learning with X-ray images. (2023/04/01) ♡
- Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model. (2023/03/29) ♡
- Nebulised interferon-β1a (SNG001) in hospitalised COVID-19: SPRINTER phase III study. (2023/03/27) ♡
- Historical biomonitoring of pollution trends in the North Pacific using archived samples from the Continuous Plankton Recorder Survey. (2023/03/20) ♡
- Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder. (2023/03/11) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Activation of PPARα Exhibits Therapeutic Efficacy in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis. (2023/03/08) ♡
- 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. Batten disease through different in vivo and in vitro models: A review. (2023/03/01) ♡
- Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis. (2023/03/01) ♡
- Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group. (2023/03/01) ♡
- Re-Emergence of BTV-4 in Sheep Farms in Kosovo, 2020: A Retrospective Study. (2023/02/27) ♡
- Investigating the impact of stigma, accessibility and confidentiality on STI/STD/HIV self-testing among college students in the USA: protocol for a scoping review. (2023/02/15) ♡
- Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases. (2023/02/10) ♡
- Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease. (2023/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C. (2023/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8. (2023/01/17) ♡
- Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis. (2023/01/02) ♡
- Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation. (2023/01/01) ♡
- Use of the Self- and Family Management Framework in quantitative studies. (2023/01/01) ♡
- Novel CLN5 Mutation in Neuronal Ceroid Lipofuscinosis Type 5. (2023/01/01) ♡
- Intravitreal gene therapy preserves retinal function in a canine model of CLN2 neuronal ceroid lipofuscinosis. (2023/01/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides. (2023/01/01) ♡
- 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. Human-Induced Pluripotent Stem Cell-Based Model of the Blood-Brain at 10 Years: A Retrospective on Past and Current Disease Models. (2023/01/01) ♡
- Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease. (2022/12/01) ♡
- Cathepsin D: Analysis of its potential role as an amyloid beta degrading protease. (2022/12/01) ♡
- Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons. (2022/12/01) ♡
- 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. Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders. (2022/11/30) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8(mnd) mice. (2022/11/11) ♡
- Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses. (2022/11/11) ♡
- An altered transcriptome underlies cln5-deficiency phenotypes in Dictyostelium discoideum. (2022/11/10) ♡
- Binding of hydroxychloroquine and chloroquine dimers to palmitoyl-protein thioesterase 1 (PPT1) and its glycosylated forms: a computational approach. (2022/11/01) ♡
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