Results 121 to 130 of about 1,648 (197)

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  

Decreased motor coordination deficits in Cln6^nclf 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), Jonathan D. Cooper (169584), Jeremy P. Morgan (479017), Jill M. Weimer (479021), Andrew Wong (256256), Bettina Koch (479020), Tarah Nelson (479019)   +6 more
core   +1 more source

A reduction in brain mass and cortical volume seen in the adult Cln6^nclf 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), Jonathan D. Cooper (169584), Jeremy P. Morgan (479017), Jill M. Weimer (479021), Andrew Wong (256256), Bettina Koch (479020), Tarah Nelson (479019)   +6 more
core   +1 more source

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), Jonathan D. Cooper (169584), Jeremy P. Morgan (479017), Jill M. Weimer (479021), Andrew Wong (256256), Bettina Koch (479020), Tarah Nelson (479019)   +6 more
core   +1 more source

Генетично верифициран случай на невронална цероидлипофусциноза с нова мутация в CLN6 гена

Българска неврология, 2019
Невроналните цероидни липофусцинози, носещи сборно наименование Болест на Batten (NCLs) представляват хетерогенна група често срещани наследствени невродегенеративни заболявания с начало в различни периоди на детската възраст и по-рядко у възрастни.
Maya Koleva, V. Bojinova, N. Ivanova, K. Mihova, R. Kuneva, I. Tournev   +5 more
doaj  

CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses

CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses
CLN6 (Ceroid Lipofuscinosis, Neuronal, 6) is a 311-amino acid protein spanning the endoplasmic reticulum membrane. Mutations in CLN6 are linked to CLN6 disease, a hereditary neurodegenerative disorder categorized into the neuronal ceroid lipofuscinoses.
openaire   +1 more source

Untersuchungen zu molekularen Veränderungen der humanen varianten Form der spät infantilen Neuronalen Ceroid Lipofuszinosen (CLN6) und des nclf -Mausmodells (Mus musculus; Linneaus L., 1758)

, 2006
Die Neuronalen Ceroid Lipofuszinosen (NCL) stellen mit einer Inzidenz von 1:12.500 die am weitesten verbreitete Gruppe neurodegenerativer Erkrankungen im Kindesalter dar. Die NCL sind lysosomale Speichererkrankungen. Die variante Form der spät infantilen
Koch, Bettina
core  

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. [PDF]

Int J Mol Sci, 2023
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C.   +14 more
europepmc   +1 more source

Strategies to treat neurodegeneration in neuronal ceroid lipofuscinosis: a view onto the retina. [PDF]

Neural Regen Res, 2023
Bartsch U.
europepmc   +1 more source

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients. [PDF]

Neurogenetics, 2023
Refeat MM, Naggar WE, Saied MME, Kilany A.   +3 more
europepmc   +1 more source