Results 101 to 110 of about 5,834 (144)
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Prenatal diagnosis of Batten's disease
Lancet, The, 1996Batten's disease is the most common progressive encephalopathy of childhood in Western countries. The major mutation is a 1kb deletion, which is carried by 81% of Batten's disease patients. We report on the use of direct gene analysis in the prenatal diagnosis of this disease.A Finnish woman with a son with Batten's disease came for genetic counselling
Sara E Mole +2 more
exaly +3 more sources
Apoptosis as the Mechanism of Neurodegeneration in Batten's Disease
Journal of Neurochemistry, 1996Abstract: Batten's disease is a genetic neurodegenerative disease of childhood. Its hallmarks are retinitis pigmentosa and neuronal degeneration. As some types of photoreceptor death in mice are mediated by apoptosis, we investigated whether apoptosis is responsible for retinal and neuronal degeneration in the late infantile and juvenile forms of ...
R D Jolly +2 more
exaly +3 more sources
Intervention in School and Clinic, 1996
Batten’s disease is one of a large group of diseases which have a metabolic basis for the signs and symptoms seen. There are over 1000 of these metabolic conditions described. They all have in common some enzyme malfunction which results in imbalances of chemicals in the body.
Barbara Johnson, Julie Jochum
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Batten’s disease is one of a large group of diseases which have a metabolic basis for the signs and symptoms seen. There are over 1000 of these metabolic conditions described. They all have in common some enzyme malfunction which results in imbalances of chemicals in the body.
Barbara Johnson, Julie Jochum
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Bone Marrow Transplantation in Late Infantile Batten Disease and Juvenile Batten Disease
Neuropediatrics, 1997Two patients, one each with LINCL and JNCL, underwent BMT in an attempt to alter the course of their disease. The LINCL patient received two transplants, one when asymptomatic, which was rapidly rejected, and a second BMT at age 3 years 9 months when the EEG had become abnormal. He has deteriorated in the following 2 years and now has only a few words,
B D, Lake +4 more
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Farnesylation of Batten Disease CLN3 Protein
Neuropediatrics, 1997The carboxyl terminal of the predicted amino acid sequence of the Batten disease CLN3 gene protein is CQLS. This motif is expected to be a site for farnesylation at the cysteine residue. In order to determine whether this is indeed farnesylated we have carried out the in-vitro prenylation of tetrapeptides CVLS, CAIL and CQLS using a farnesyl ...
R K, Pullarkat, G N, Morris
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Batten disease: Past, present, and future
American Journal of Medical Genetics, 1988The name Batten disease (or neuronal ceroid lipofuscinosis) is used to unify the spectrum of clinical and pathological conditions covered by the names infantile, late infantile, juvenile, and adult variants with their respective eponyms. The past was largely devoted to clinical diagnosis. The present is devoted to specific diagnostic tests.
J. Alfred Rider +4 more
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British Journal of Visual Impairment, 1987
This article outlines the results of tests on children which formed part of a study, including case histories and observations, on the education and care problems of children suffering from juvenile Battens disease. These tests appeared to show that these children follow a de inite pattern of deterioration but that the hard work required to prolong ...
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This article outlines the results of tests on children which formed part of a study, including case histories and observations, on the education and care problems of children suffering from juvenile Battens disease. These tests appeared to show that these children follow a de inite pattern of deterioration but that the hard work required to prolong ...
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Neurophysiological Studies in Batten's Disease
Developmental Medicine & Child Neurology, 1971SUMMARYTwenty cases of presumed or proven juvenile amaurotic familial idiocy (Batten's disease) have been studied neurophysiologically. A characteristic eeg pattern was observed in 19 of these patients, photic activation in 7, and an abnormal evoked cerebral potential to median nerve stimulation in 5 of 6 cases so tested.
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Genetic analysis of Batten disease
Journal of Inherited Metabolic Disease, 1993SummaryBatten disease, or neuronal ceroid‐lipofuscinosis (CLN) comprises a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurones. The three main childhood varieties — infantile (CLN1), late‐infantile (CLN2) and juvenile (CLN3) — manifest autosomal recessive inheritance.
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