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Showing 1 to 4 of 4 for “"Neuronal ceroid lipofuscinoses"”.
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Systematic Analysis of disease pathways in Congenital, Infantile and Juvenile Neuronal Ceroid Lipofuscinoses
Neuronal ceroid lipofuscinoses (NCL) are common inherited childhood brain disorders. Since 1995, 13 known NCL causative genes (CLN1-8, CLN10-14) have been identified. Despite progress in the NCL field, the primary function and physiological roles of most NCL proteins remain unresolved. In this …
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Spinal cord pathology of ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease) : A thesis submitted in partial fulfilment of the requirements for the Degree of Master of Agricultural Science at Lincoln University
Neuronal ceroid lipofuscinosis (NCL or Batten disease) is a fatal neurodegenerative disorder, which occurs in approximately 1 in 12,500 children worldwide and currently has no cure. To date, there are thirteen known variants of NCL, caused by mutations in the genes CLN1-8 or CLN10-14. Two naturally …
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The Role of Astrocyte Activation in Infantile Neuronal Ceroid Lipofuscinosis
Infantile neuronal ceroid lipofuscinoses: INCLs), or Batten Disease, is an inherited neurodegenerative lysosomal storage disorder affecting the central nervous system: CNS) during infancy or childhood. Hallmark pathological changes include accumulation of autofluorescent material, neuronal loss, …
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Pathogenic impact of immune-related cells in Batten disease
The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are inherited neurodegenerative diseases of children. In all types of NCL glial activation, the innate immune response of the brain, precedes neurodegeneration. However, it is unclear whether adaptive immune responses are also involved in …