Results 31 to 40 of about 5,834 (144)
Journal of Child Neurology, 2013 Batten disease was the topic of the 12th Neurobiology of Disease in Children Symposium, held October 31, 2012, in Huntington Beach, California. Program co-directors Dr David Pearce and Dr Jonathan Mink prepared an engaging agenda that included individual presentations and a panel discussion from leaders in the field of neuronal ceroid lipofuscinoses.
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Neuronal Ceroid Lipofuscinosis (Batten's Disease) [PDF]
Archives of Disease in Childhood, 1972 Four patients are described, who on clinical, histological, and biochemical criteria are considered to be suffering from neuronal ceroid lipofuscinosis. It is suggested that this may be the commonest condition included under the term amaurotic family idiocy.
N S, Gordon, H B, Marsden, M J, Noronha
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Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses
Data in Brief, 2021 This article presents datasets associated with the research article entitled “Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease” (Murray et al., [1]). The neuronal ceroid lipofuscinoses (NCL;
Katharina N. Russell +4 more
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Phenotypes of Juvenile Batten Disease
Pediatric Neurology Briefs, 1999 The phenotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients were correlated with the genotypes in a study at Helsinki University, Finland; and the Rayne Institute, University College, London, UK.
J Gordon Millichap
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The conserved cellular roles of CLN proteins: Novel insights from Dictyostelium discoideum
European Journal of Cell Biology, 2023 The neuronal ceroid lipofuscinoses (NCLs), collectively referred to as Batten disease, are a group of fatal neurodegenerative disorders that primarily affect children. The etiology of Batten disease is linked to mutations in 13 genes that encode distinct
Adam A.N. Remtulla, Robert J. Huber
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Cardiac Involvement in Batten Disease
Pediatric Neurology Briefs, 2011 The onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) are studied in 29 children and adolescents with genetically verified disease at Aarhus University Hospital, Skejby, Denmark.
J Gordon Millichap
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Mfsd8 Modulates Growth and the Early Stages of Multicellular Development in Dictyostelium discoideum
Frontiers in Cell and Developmental Biology, 2022 MFSD8 is a transmembrane protein that has been reported to transport chloride ions across the lysosomal membrane. Mutations in MFSD8 are associated with a subtype of Batten disease called CLN7 disease.
Shyong Quan Yap +3 more
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A Knock-In Reporter Model of Batten Disease [PDF]
The Journal of Neuroscience, 2007 Juvenile neuronal ceroid lipofuscinosis is a severe inherited neurodegenerative disease resulting from mutations inCLN3(ceroid-lipofuscinosis, neuronal 3, juvenile). CLN3 function, and where and when it is expressed during development, is not known. In this study, we generated a knock-in reporter mouse to elucidate CLN3 expression during embryogenesis ...
Steven L, Eliason +6 more
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pH-dependent localization of Btn1p in the yeast model for Batten disease
Disease Models & Mechanisms, 2011 SUMMARY Btn1p the yeast homolog of human CLN3, which is associated with juvenile Batten disease has been implicated in several cellular pathways. Yeast cells lacking BTN1 are unable to couple ATP hydrolysis and proton pumping activities by the vacuolar ...
Devin M. Wolfe +3 more
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Alpha-fetoprotein is an autoantigen in hepatocellular carcinoma and juvenile Batten disease
Frontiers in Bioscience-Landmark, 2020 Failure of immune tolerance leads to production of autoantibodies to self-antigens. The repertoire of autoantibodies detected in cancer patients can indicate the presence of autoimmune disease.
Roberto Bei, Gerald J. Mizejewski
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