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Rare and hereditary disorders
Batten disease
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Publications and studies (974)
- OCT Biomarkers in Ocular CLN2 Disease in Patients Treated With Intraventricular Enzyme Replacement Therapy. (2024/07/01) ♡
- 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. Neurosurgical gene therapy for central nervous system diseases. (2024/07/01) ♡
- Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills. (2024/06/26) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics. (2024/06/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2. (2024/06/15) ♡
- Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease. (2024/06/13) ♡
- Long-term trial of protection provided by adenovirus-vectored vaccine expressing the PPRV H protein. (2024/06/03) ♡
- Loss of the lysosomal protein CLN3 modifies the lipid content of the nuclear envelope leading to DNA damage and activation of YAP1 pro-apoptotic signaling. (2024/06/02) ♡
- Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia. (2024/06/01) ♡
- 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. Nebulised interferon beta-1a (SNG001) in the treatment of viral exacerbations of COPD. (2024/05/29) ♡
- Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease. (2024/05/29) ♡
- 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 in a Mixed-Breed Dog with a Splice Site Variant in CLN6. (2024/05/23) ♡
- 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. Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data. (2024/05/22) ♡
- Designing a Multiplex PCR-xMAP Assay for the Detection and Differentiation of African Horse Sickness Virus, Serotypes 1-9. (2024/05/03) ♡
- 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. Intravitreal enzyme replacement for inherited retinal diseases. (2024/05/01) ♡
- A recessive CLN3 variant is responsible for delayed-onset retinal degeneration in Hereford cattle. (2024/05/01) ♡
- Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease. (2024/05/01) ♡
- Corrigendum to "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" [Neurobiology of Disease 127 (2019) 362-373]. (2024/05/01) ♡
- A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease. (2024/05/01) ♡
- Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease. (2024/04/04) ♡
- Sequencing and Analysis of Lumpy Skin Disease Virus Whole Genomes Reveals a New Viral Subgroup in West and Central Africa. (2024/04/03) ♡
- First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy. (2024/04/01) ♡
- 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. Optical coherence tomography in children with inherited retinal disease. (2024/04/01) ♡
- Peripheral retinal finding on fluorescein angiography in neuronal ceroid lipofuscinosis type 2 (CLN2). (2024/04/01) ♡
- Dopamine and serotonin in human substantia nigra track social context and value signals during economic exchange. (2024/04/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Progressive Visual Loss Is Not Always Accompanied by Neurodegenerative Disorder in Juvenile Neuronal Ceroid Lipofuscinosis: A Case Report. (2024/04/01) ♡
- Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes. (2024/03/25) ♡
- Full genome sequence analysis of African swine fever virus isolates from Cameroon. (2024/03/21) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The parent and family impact of CLN3 disease: an observational survey-based study. (2024/03/18) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Haploidentical haematopoietic stem cell transplantation combined with post-transplant cyclophosphamide in neuronal ceroid lipofuscinosis: Experience in eight patients. (2024/03/08) ♡
- Developmental Skills and Neurorehabilitation for Children With Batten Disease: A Retrospective Chart Review of a Comprehensive Batten Clinic. (2024/03/01) ♡
- 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. Splice-Modulating Antisense Oligonucleotides as Therapeutics for Inherited Metabolic Diseases. (2024/03/01) ♡
- Lafora Disease. (2024/02/29) ♡
- Identification of New Modulators and Inhibitors of Palmitoyl-Protein Thioesterase 1 for CLN1 Batten Disease and Cancer. (2024/02/28) ♡
- Sex-Based Differences in IBD Surgical Outcomes. (2024/02/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations. (2024/02/01) ♡
- Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa. (2024/02/01) ♡
- Specific T-cell subsets have a role in anti-viral immunity and pathogenesis but not viral dynamics or onwards vector transmission of an important livestock arbovirus. (2024/01/31) ♡
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances. (2024/01/27) ♡
- 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. Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature. (2024/01/23) ♡
- Mechanistic Insights into S-Depalmitolyse Activity of Cln5 Protein Linked to Neurodegeneration and Batten Disease: A QM/MM Study. (2024/01/10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Impact of Preoperative Factors in Patients With IBD on Postoperative Length of Stay: A National Surgical Quality Improvement Program-Inflammatory Bowel Disease Collaborative Analysis. (2024/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. L116 Deletion in CSPα Promotes α-Synuclein Aggregation and Neurodegeneration. (2024/01/01) ♡
- 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. Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions. (2024/01/01) ♡
- Effect of Inhaled Sevoflurane on Pediatric Cerebrospinal Fluid Pressure During Lumbar Puncture; Implications for Intracranial Hypertension. (2024/01/01) ♡
- Dem-Aging: autophagy-related pathologies and the "two faces of dementia". (2024/01/01) ♡
- Mechanisms regulating the intracellular trafficking and release of CLN5 and CTSD. (2024/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy. (2024/01/01) ♡
- Detection of EHDV Antibodies Using Enzyme-Linked Immunosorbent Assay (ELISA). (2024/01/01) ♡
- Twenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease. (2024/01/01) ♡
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