Results 91 to 100 of about 425 (135)
Some of the next articles are maybe not open access.
The Newfoundland aggregate of neuronal ceroid-lipofuscinosis
American Journal of Medical Genetics, 1988We have found a group of individuals with the late infantile, the early juvenile variant, and juvenile neuronal ceroid-lipofuscinosis (NCL) in Newfoundland, an island with a population of 500,000. In the past 25 yr, we have ascertained 44 cases of NCL in 32 sibships: 32 cases of late infantile NCL (LINCL) in 24 sibships, 11 cases of the early juvenile ...
Eva Andermann +8 more
openaire +2 more sources
Computed tomography in neuronal ceroid lipofuscinosis
Neuroradiology, 1980The computed tomography (CT) findings in a verified case of neuronal ceroid lipofuscinosis (NCL) are presented. CT revealed diffuse and severe cerebral atrophy, reflected by generalized subarachnoid space enlargement and symmetric ventricular dilatation. There was no evidence of abnormalities of the white matter.
A, Valavanis +3 more
openaire +2 more sources
Canine ceroid-lipofuscinosis — A model for human neuronal ceroid-lipofuscinosis and aging
Mechanisms of Ageing and Development, 1973Abstract A controlled longitudinal morphologic study revealed that the formation and accumulation of an autofluorescent lipopigment, identified as “ceroid” in the isolated state, commences in utero and progresses linearly with time. Only after a distinct loss of neurocytoplasm and its functional organelles is demonstrable, do clinical signs and ...
openaire +2 more sources
Neuronal ceroid‐lipofuscinosis and hydrocephalus in a chihuahua
Journal of Small Animal Practice, 2003A two‐year‐old, female chihuahua presented with a six‐month history of visual dysfunction. Computed tomography revealed dilation of the lateral ventricles in the central nervous system (CNS). The dog was tentatively diagnosed as having hydrocephalus and a month later was euthanased at the owner's request.
M, Kuwamura +4 more
openaire +2 more sources
Evoked Potentials in Neuronal Ceroid Lipofuscinosis
European Neurology, 2008Nerve conduction, EEG, visual evoked potentials, electroretinograms and somatosensory evoked potentials were investigated in 3 children with the Bielschowsky-Jansky-type and in 1 child diagnosed as Spielmeyer-Vogt-type of neuronal ceroid lipofuscinosis. Electroretinograph-ic responses were abolished in all of them.
W, Tackmann, D, Kuhlendahl
openaire +2 more sources
Pigment variant of neuronal ceroid‐lipofuscinosis
American Journal of Medical Genetics, 1995AbstractA 6‐year‐old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep‐tendon reflexes which suggested Charcot‐Marie‐Tooth disease.
H H, Goebel +4 more
openaire +2 more sources
Blood lymphocytes in neuronal ceroid lipofuscinosis
The Italian Journal of Neurological Sciences, 1988Ultrastructural examination of white blood cells of 8 patients with neuronal ceroid lipofuscinosis showed the characteristic cytosomes, i.e. curvilinear bodies, fingerprint profiles, osmiophilic bodies, as seen in nerve cells. The reliability of this simple technique in the diagnostic work-up of this progressive neurodegenerative disorder is emphasized.
SIMONATI, Alessandro, RIZZUTO, Nicolo'
openaire +2 more sources
The canine neuronal ceroid-lipofuscinosis: a review.
Schweizer Archiv fur Tierheilkunde, 2014Die vorliegende Arbeit gibt eine Übersicht und Zusammenfassung über den aktuellen Wissensstand der neuronalen Ceroid-Lipofuszinose (NCL) beim Hund. Die NCL ist eine heterogene Gruppe lysosomaler Speicherkrankheiten bei Mensch und Tier. Aufgrund einer Genmutation kommt es zur Akkumulation von Ceroid-Lipofuszin in Nervenzellen, Zellen der Netzhaut, Haut ...
Karli, Philemon +5 more
openaire +3 more sources
Morphologic Diagnosis in Neuronal Ceroid Lipofuscinosis
Neuropediatrics, 1997Morphologic pathology in NCL is marked by two processes, the interaction of which has not yet been completely clarified: 1) degeneration of nerve cells, foremost in the cerebral cortex, resulting in considerable cerebral atrophy in early childhood forms, likely responsible for clinical and neuroradiological findings; 2) widespread accumulation of ...
openaire +2 more sources
Neuronal ceroid lipofuscinosis in a lovebird
Veterinary Record, 1988R L, Reece, P, MacWhirter
openaire +2 more sources