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Batten disease

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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)

• GABA(A)R-PPT1 palmitoylation homeostasis controls synaptic transmission and circuitry oscillation. (2024/12/18) ♡
• Increased SNAI2 expression and defective collagen adhesion in cells with pediatric dementia, juvenile ceroid lipofuscinosis. (2024/12/17) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. [Study of a case of Juvenile neuronal ceroid lipofuscinosis due to compound heterozygous variants of PPT1 gene]. (2024/12/10) ♡
• 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. A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review. (2024/12/10) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. The Psychiatric Care of Children and Young Adults With Neurodegenerative Diseases. (2024/12/01) ♡
• Trends in pancreatic cancer mortality in the United States 1999-2020: a CDC database population-based study. (2024/12/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions. (2024/12/01) ♡
• Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis. (2024/12/01) ♡
• Functionally overlapping intra- and extralysosomal pathways promote bis(monoacylglycero)phosphate synthesis in mammalian cells. (2024/11/16) ♡
• Enzyme Replacement Therapy for CLN2 Disease: MRI Volumetry Shows Significantly Slower Volume Loss Compared with a Natural History Cohort. (2024/11/07) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia. (2024/11/04) ♡
• Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease. (2024/11/04) ♡
• Cathepsin D inhibition during neuronal differentiation selectively affects individual proteins instead of overall protein turnover. (2024/11/01) ♡
• 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. [Adult and pediatric thesaurismosis: Lysosomal, lipid and glycogen storage diseases]. (2024/11/01) ♡
• 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. Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: A 10-year case report and case-based review. (2024/10/25) ♡
• Loss of CLN3 in microglia leads to impaired lipid metabolism and myelin turnover. (2024/10/22) ♡
• Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH). (2024/10/10) ♡
• CLN3 transcript complexity revealed by long-read RNA sequencing analysis. (2024/10/04) ♡
• Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil. (2024/10/01) ♡
• Cavum Septum Pellucidum in Former American Football Players: Findings From the DIAGNOSE CTE Research Project. (2024/10/01) ♡
• 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. A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature. (2024/09/30) ♡
• 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. Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics. (2024/09/23) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses. (2024/09/19) ♡
• Emergence of dysfunctional neutrophils with a defect in arginase-1 release in severe COVID-19. (2024/09/10) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventions. (2024/09/06) ♡
• Rapid tumor DNA analysis of cerebrospinal fluid accelerates treatment of central nervous system lymphoma. (2024/09/05) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy. (2024/09/01) ♡
• 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 homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease. (2024/09/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model. (2024/09/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Reduction of neuroinflammation and seizures in a mouse model of CLN1 batten disease using the small molecule enzyme mimetic, N-Tert-butyl hydroxylamine. (2024/09/01) ♡
• Upregulation of peroxisome proliferator-activated receptor γ with resorcinol alleviates reactive oxygen species generation and lipid accumulation in neuropathic lysosomal storage diseases. (2024/09/01) ♡
• Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Reducing health-related stigma in adults living with chronic non-communicable diseases: A systematic review and meta-analysis. (2024/09/01) ♡
• Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications. (2024/09/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. 2024 Scholars' Research Symposium Abstract: Sex-Split Analysis of Pathology and Motor-Behavioral Outcomes in a Mouse Model Of CLN8-Batten Disease. (2024/09/01) ♡
• Batten Disease (Juvenile Neuronal Ceroid Lipofuscinosis). (2024/08/17) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. High Prevalence of Movement Disorder in Treated CLN2-Batten Disease: Rare Disease Therapy Development Must Not Stop With Approved Treatment. (2024/08/13) ♡
• Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy. (2024/08/13) ♡
• Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis. (2024/08/01) ♡
• 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 in a Schapendoes dog is caused by a missense variant in CLN6. (2024/08/01) ♡
• TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells. (2024/07/29) ♡
• Interventions to improve system-level coproduction in the Cystic Fibrosis Learning Network. (2024/07/27) ♡
• Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience. (2024/07/24) ♡
• Comparative evaluation of disease dynamics in wild boar and domestic pigs experimentally inoculated intranasally with the European highly virulent African swine fever virus genotype II strain "Armenia 2007". (2024/07/15) ♡
• The Role of Social Determinants in Diagnosis Timing for Fetal Care Center-Eligible Conditions: A Scoping Review. (2024/07/12) ♡
• Wide-field OCT angiography for non-human primate retinal imaging. (2024/07/12) ♡
• Temporally resolved proteomics identifies nidogen-2 as a cotarget in pancreatic cancer that modulates fibrosis and therapy response. (2024/07/05) ♡
• US State Restrictions and Excess COVID-19 Pandemic Deaths. (2024/07/05) ♡
• COVID-19 Severity and Mortality in Veterans with Chronic Lung Disease. (2024/07/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model. (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. Mechanisms of Action of the US Food and Drug Administration-Approved Antisense Oligonucleotide Drugs. (2024/07/01) ♡

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