Results 121 to 130 of about 1,806 (157)
Some of the next articles are maybe not open access.
Childhood neuronal ceroid‐lipofuscinoses in Argentina
American Journal of Medical Genetics, 1995AbstractWe 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 +7 more
openaire +2 more sources
Molecular Genetics of the Neuronal Ceroid Lipofuscinoses
Epilepsia, 1999Summary:The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterised by the accumulation of autofluorescent storage material in neurons and other cell types. The clinical features include visual impairment, progressive myoclonic epilepsy, and cognitive decline reflecting progressive neurodegeneration. The
S, Mole, M, Gardiner
openaire +2 more sources
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 ...
openaire +1 more source
Neuronal Ceroid Lipofuscinoses
1995The neuronal ceroid lipofuscinoses (NCL), often called Batten disease, constitute a group of progressive neurodegenerative disorders either with an autosomal recessive mode of inheritance in infants, children and adults or, in rare instances, with an autosomal dominant mode of inheritance in adults.
Marjo S. van der Knaap, Jacob Valk
openaire +1 more source
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses
Acta Neuropathologica, 2006Neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative diseases and autosomal recessive lysosomal storage disorders. We examined the involvement of cell death, oxidative stress, and glutamate excitotoxicity using immunohistochemistry against Bcl-2, Bcl-x, oxidative products to proteins, lipids and DNA, calcium-binding proteins (calbindin-
Yasuo, Hachiya +5 more
openaire +2 more sources
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.
openaire +2 more sources
Ocular Manifestations of Neuronal Ceroid Lipofuscinoses
Seminars in Ophthalmology, 2021Rohan Bir Singh +2 more
exaly
Neuronal ceroid lipofuscinoses
European Journal of Paediatric Neurology, 1999openaire +3 more sources
The Neuronal Ceroid Lipofuscinoses
NeuroMolecular Medicine, 2002Jill M. Weimer +3 more
openaire +1 more source