Results 121 to 130 of about 1,776 (152)

Childhood neuronal ceroid‐lipofuscinoses in Argentina

American Journal of Medical Genetics, 1995
AbstractWe report on 30 cases of neuronal ceroid lipofuscinoses (NCL), mainly diagnosed in 1985–1993 in Argentina, whose population is predominantly of European descent. Twenty‐four cases were late infantile Jansky‐Bielschowsky (LINCL) and 6 were juvenile Spielmeyer‐Vogt (JNCL). Sex ratio was female: male, 20:10.
A L, Taratuto, M, Saccoliti, G, Sevlever, V, Ruggieri, H, Arroyo, M, Herrero, M, Massaro, N, Fejerman   +7 more
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Neuronal ceroid-lipofuscinoses: The current status

Brain and Development, 1992
In 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, 1997
This 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, 1999
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Neuronal ceroid lipofuscinoses (NCL)

European Journal of Paediatric Neurology, 1997
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The Neuronal Ceroid Lipofuscinoses

2022
Maurizio Scarpa, Cinzia Maria Bellettato, Annalisa Sechi   +2 more
openaire   +1 more source

The Neuronal Ceroid Lipofuscinoses

NeuroMolecular Medicine, 2002
Jill M. Weimer, Elizabeth Kriscenski-Perry, Yasser Elshatory, David A. Pearce   +3 more
openaire   +1 more source

INCREASED NON-PROTEIN-BOUND IRON AND DECREASED PROTECTION AGAINST SUPEROXIDE-RADICAL DAMAGE IN CEREBROSPINAL FLUID FROM PATIENTS WITH NEURONAL CEROID LIPOFUSCINOSES

Lancet, The, 1982
Barry Halliwell
exaly  

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

Human Mutation, 2012
Sara E Mole, Anna-Elina Lehesjoki
exaly  

Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2020
Rachel A Kline, Thomas M Wishart, Kevin Mills   +2 more
exaly