Results 91 to 100 of about 1,285 (177)

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Molecular Genetics and Metabolism Reports, 2017
Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations.
Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee   +11 more
doaj   +1 more source

Decreased dendritic spine density in the mature cortex of Cln6^nclf mice.

, 2013
Golgi impregnation was used to label dendritic spines on the primary dendrite of excitatory cortical projection neurons in age-matched 2 month controls (A) and Cln6nclf (B) mice.
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

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  

Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells [PDF]

, 2018
The neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage disorders characterized by general neurodegeneration and premature death. Sight loss is also a major symptom in NCLs, severely affecting the quality of life of patients, but it is ...
Rizzi, M, Kleine Holthaus, S-M, Abelleira-Hervas, L, Hoke, J, Ribeiro, J, Duran, Y, Ali, RR, Pearson, RA, Georgiadis, A, Maswood, R, Azam, S, Luhmann, UFO, Mole, SE, Sampson, RD, Smith, AJ   +14 more
core  

CLN6^nclf mice show progressive degeneration, lipofuscin accumulation, and microglial reactivity in the retina.

, 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), Herbert Jägle (302852), Myriam Mirza (466789), Cornelia Volz (466790), Mika O. Ruonala (466793), Thomas Langmann (80301), Ernst R. Tamm (268640), Marcus Karlstetter (397139), Aleksandra Somogyi (466792)   +8 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

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

Retinal degeneration and vision loss in the Cln6^nclf 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), 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

CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy [PDF]

Journal of the korean child neurology society, 2018
null 이현경, null 우영종, null 김명규, null 윤보애, null 김영옥   +4 more
openaire   +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), Alexandra Grubman (389646), Brett M. Paterson (144950), Anthony R. White (144961), David N. Palmer (389649), Peter J. Crouch (144959), Paul S. Donnelly (144955), James L. Hickey (389648), Irene Volitakis (31156), Imke Tammen (280856), Clare Duncan (110180), Jiang-Li Tan (389647), Jodi Meyerowitz (144932), Sarah J. Parker (144929)   +13 more
core   +1 more source