Results 91 to 100 of about 1,359 (178)
Investigating Disease Processes in CLN5 and CLN6 Batten Disease
, 2017 The neuronal ceroid lipofuscinoses (NCL, Batten disease) are a heterogeneous group of inherited neurodegenerative disorders, clinically characterised by blindness, myoclonic epilepsy, cerebral atrophy, and progressive cognitive and motor decline. To date,
Best, Hannah
core
, 2013 A. Histological changes in retinal sections from 8 month old wild-type mice compared to different ages of CLN6nclf mice using fuchsin/methylene blue staining. B.
Monica Langiu (466791) +8 more
core +1 more source
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 +1 more source
Embracing the future: Neonatal screening for epileptic syndromes
Epilepsia, Volume 66, Issue 6, Page 1843-1853, June 2025.
Rima Nabbout, Mathieu Kuchenbuch
wiley +1 more source
CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy [PDF]
Journal of the korean child neurology society, 2018 null 이현경 +4 more
openaire +1 more source
Prenatal Synaptic Pathology and Correction in CLN6 Ovine Neuronal Ceroid Lipofuscinosis
, 2015 The neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of severe autosomal recessive and incurable childhood lysosomal storage disorders (LSD). They have a combined incidence of 1 in 100,000 live births, affecting males and females equally.
Neverman, Nicole Jayne
core +1 more source
Activation of ERK in disease-affected regions of CLN6 sheep brain.
, 2013 (A) Thirty micrograms of homogenate from occipital lobe, parietal lobe, frontal lobe, thalamus, cerebellum, and brainstem from 12–14 month old control (CTRL1), CLN5 heterozygote (CTRL2) and CLN6 homozygote (CLN6) sheep were immunoblotted with an antibody
Katja M. Kanninen (144942) +13 more
core +1 more source
Retinal degeneration and vision loss in the Cln6nclf mouse.
, 2013 Cell loss and structural degenerative changes occur in the retina of Cln6nclf mice. (A) Comparison of gross morphological changes over time in retina of Cln6nclf mice and their respective age-matched WT controls was done to determine mechanism of ...
Helen Magee (479018) +6 more
core +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