Results 101 to 110 of about 1,285 (177)
BMC Cell Biology, 2009 Background Neuronal ceroid lipofuscinoses (NCLs) comprise at least eight genetically characterized neurodegenerative disorders of childhood. Despite of genetic heterogeneity, the high similarity of clinical symptoms and pathology of different NCL ...
Jalanko Anu +6 more
doaj +1 more source
Age-dependent thinning of retinal and photoreceptor layers in CLN6nclf retinas.
, 2013 Anterior and posterior retinal areas were divided into ten sections with the optic nerve head as reference. A. Quantification of whole retinal thickness of CLN6nclf retinas compared to wild-type controls (mean ± SD). B.
Monica Langiu (466791) +8 more
core +1 more source
Altered metal concentrations in CLN6 disease affected brain.
, 2013 Metal concentrations in the occipital lobe, parietal lobe, frontal lobe, thalamus, cerebellum, and brainstem of 12–14 month old Merino and South Hampshire (SH) CLN6 and Merino and South Hampshire control sheep were measured using ICP-MS.
Katja M. Kanninen (144942) +13 more
core +1 more source
Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6
Animal GeneticsAbstractNeuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders that occur in humans, dogs, and several other species. NCL is characterised clinically by progressive deterioration of cognitive and motor function, epileptic seizures, and visual impairment.
Kim K. L. Bellamy +4 more
openaire +2 more sources
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families [PDF]
Progressive myoclonic epilepsies (PMEs) are a group of neurodegenerative disorders, predominantly affecting adolescents and, characterized by generalized worsening myoclonus epilepsies, ataxia, cognitive deficits, and dementia.
Raja, Ghazala Kaukab +11 more
core
Decreased motor coordination deficits in Cln6nclf mice.
, 2013 (A) Rotarod testing was performed on postnatal day 14, 28, 90, and 270 old WT and Cln6nclf mice. Data are plotted as average latency to fall from the rotating rod during a 240 second trial period (3 trials per mouse per time point).
Helen Magee (479018) +6 more
core +1 more source
Understanding Batten disease: CLN5 expression in CLN6 deficient ovine neural cultures.
, 2014 Neuronal Ceroid Lipofuscinoses (NCL) are a group of debilitating and fatal neurodegenerative diseases of childhood resulting from progressive brain atrophy.
McIntyre, Kristina
core
Learning and memory deficits are associated with mutation in Cln6.
, 2013 Following a period of habituation and training, memory and learning performance were tested in a radial arm maze task. (A–B) In an assay of memory, Cln6nclf mice displayed a significant increase in the latency (time in seconds) to complete an 8-arm ...
Helen Magee (479018) +6 more
core +1 more source
A reduction in brain mass and cortical volume seen in the adult Cln6nclf mouse.
, 2013 Brain mass was assessed in the Cln6nclf, as a decrease in brain mass is often seen in vLINCL patients. (A) Brain mass was reduced beginning at 5 months when compared to age matched controls.
Helen Magee (479018) +6 more
core +1 more source