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Towards understanding the neuronal ceroid lipofuscinoses
Brain and Development, 2009The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic progressive brain diseases of children and young adults, characterized by a decline of mental and other capacities, epilepsy, and visual loss through retinal degeneration. The common pathology of NCLs is that of a storage disorder with accumulation of an autofluorescent material, ceroid ...
Alfried, Kohlschütter, Angela, Schulz
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Biochemical aspects of neuronal ceroid lipofuscinoses
Neurological Sciences, 2000The neuronal ceroid lipofuscinoses (NCLs) collectively constitute the most common group of progressive brain diseases in children. The childhood forms of NCL are recessively inherited monogenic diseases, resulting in progressive dementia and motor problems, epilepsy, blindness and, finally, early death.
J, Tyynelä, J, Suopanki
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Neuronal Ceroid-Lipofuscinoses
2007Neuronal ceroid-lipofuscinoses (NCLs, also referred to as Battens disease) are inherited lysosomal storage diseases characterized by progressive neurodegeneration and premature death. As a group, the NCLs compose the most common reason for children’s progressive encephalopathy, and their incidence in the Northern Europe and US has been estimated to be ...
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The neuronal ceroid lipofuscinoses.
Journal of child neurology, 1989The neuronal ceroid lipofuscinoses are clinical disorders associated with the accumulation of autofluorescent waxy pigments within cells of several different tissues. Such syndromes always have neurological manifestations. Variations in clinical course, genetics, pathogenesis, and possibly treatment occur in each of the several forms listed under this ...
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Genetics of the neuronal ceroid lipofuscinoses
Current Opinion in Genetics & Development, 2000The neuronal ceroid lipofuscinoses (NCLs) are an intriguing group of inherited neurodegenerative disorders characterized by blindness, progressive psychomotor deterioration and death of neocortical neurons. Clinically, four major NCL groups have been identified: infantile, late infantile, juvenile and adult.
L, Peltonen, M, Savukoski, J, Vesa
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Neuronal ceroid-lipofuscinoses: The current status
Brain and Development, 1992In view of the epidemiological connotation of childhood neuronal ceroid-lipofuscinosis (NCL) as one of the most frequent progressive lysosomal diseases and neurodegenerative disorders in children, the recognition of the individual clinical forms of childhood NCL is still based on invasive diagnostic electronmicroscopy which, currently, may be applied ...
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Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses
Neuropediatrics, 1997This is an overview of the neurophysiological findings of various forms of neuronal ceroid lipofuscinoses and their evolution during the progression of the diseases.
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Neuronal ceroid lipofuscinoses
European Journal of Paediatric Neurology, 1999openaire +3 more sources
Neuronal ceroid lipofuscinoses (NCL)
European Journal of Paediatric Neurology, 1997openaire +2 more sources