Results 71 to 80 of about 2,498 (170)
Generalized lipofuscinosis in a dog.
The Japanese Journal of Veterinary Science, 1985 Generalized lipofuscinosis was found incidentally in a 3-year-old, male Japanese retriever dog. Lipofuscin and ceroid pigments were deposited extensively in various tissues and organs including the brain. The histological changes suggested vitamin E deficiency as a possible cause of the lipofuscinosis and differentiated it from neuronal ceroid ...
UMEMURA, Takashi +3 more
openaire +2 more sources
Neuronal Ceroid Lipofuscinosis With Hypergonadotropic Hypogonadism
, 1986 A case of adolescent-onset neuronal ceroid lipofuscinosis presenting with chorea and evidencing pyramidal and cerebellar dysfunction as well as hypergonadotropic hypogonadism is reported.
New, Maria +3 more
core +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Neuronal Ceroid-Lipofuscinosis in Older Dachshunds
, 2016 A lysosomal storage disease with accumulation of periodic acid-Schiff- and Sudan black-positive autofluorescent granules in neurons occurred in one 51/2- and one 7-year-old dachshund.
Fatzer, R., Vandevelde, M.
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, 2022 Mutations in DNAJC5/CSPα are associated with adult neuronal ceroid lipofuscinosis (ANCL), a dominant-inherited neurodegenerative disease featuring lysosome-derived autofluorescent storage materials (AFSMs) termed lipofuscin. Functionally, DNAJC5 has been
Yue Xu (246925) +5 more
core +1 more source
Veterinary Record Case Reports, Volume 14, Issue 2, May 2026.Abstract A 12‐year‐old, male intact, Papillon dog was presented following trauma from a motor vehicle accident. On arrival, the dog was laterally recumbent with neurological dysfunction (modified Glasgow coma scale 12) and multiple injuries, including right hip luxation and suspected haemorrhage.
Charles T. Talbot +2 more
wiley +1 more source
Blood lymphocytes in neuronal ceroid lipofuscinosis
, 1988 Ultrastructural 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.
RIZZUTO, Nicolo', SIMONATI, Alessandro
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Advanced Science, Volume 13, Issue 19, 2 April 2026.This study demonstrates that somatic PIK3CA mutations suppress PPT1 expression via activation of the PI3K–AKT–c‐JUN axis. This reduction in PPT1 weakens its interaction with P300, thereby increasing palmitoylation at C1176 of P300 and protecting P300 from lysosomal degradation.
Hongrui Chen +7 more
wiley +1 more source
A Case of Late Infantile Neuronal Ceroid Lipofuscinosis Associated With Precocious Puberty
, 2000 Neuronal ceroid lipofuscinosis is one of the heredodegenerative diseases for which clinical and neuropathologic findings are well documented. We present a patient with late infantile neuronal ceroid lipofuscinosis with true precocious puberty; to our ...
Türkan Küçükali +5 more
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Journal of Neurochemistry, Volume 170, Issue 4, April 2026.Different ATP13A2 mutations associated with Kufor‐Rakeb Syndrome (KRS) result in varying levels of intracellular iron accumulation. Frameshift and deletion mutations lead to excessive iron accumulation and increased cell death, whereas missense mutations cause milder functional impairment, resulting in lower iron accumulation and reduced cellular ...
Ezgi Erterek +7 more
wiley +1 more source