Results 111 to 120 of about 2,376 (188)

Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View. [PDF]

Front Neurol, 2021
Kohlschütter A.
europepmc   +1 more source

A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses

, 2011
The Neuronal Ceroid Lipofuscinoses (NCL) are a group of fatal inherited neurodegenerative diseases in humans distinguished by a common clinical pathology, characterized by the accumulation of storage body material in cells and gross brain atrophy.
Michael R. Pears, Cooper, Jonathan D., Jonathan D. Cooper, Russell J. Mortishire-Smith, Julian L. Griffin, Griffin, Julian L., Hannah M. Mitchison, Reza M. Salek, Mortishire-Smith, Russell J., Pearce, David A., Pears, Michael R., David A. Pearce, Salek, Reza M., Mitchison, Hannah M.   +13 more
core   +1 more source

Juvenile neuronal ceroid lipofuscinosis and education

, 2013
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4–8years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and ...
Elmerskog, Bengt, Fosse, Per, von Tetzchner, Stephen   +2 more
core   +1 more source

Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses. [PDF]

Molecules, 2021
Morsy A, Carmona AV, Trippier PC.
europepmc   +1 more source

Involvement of the skin in late infantile and juvenile amaurotic idiocies (neuronal ceroid-lipofuscinoses)

, 1974
: Skin biopsies have been performed in five cases belonging to the group of neuronal ceroid-lipofuscinoses (two cases of late infantile amaurotic idiocy with curvilinear cytosomes and three cases of juvenile amaurotic idiocy) and in twelve controls.
Ceuterick-de Groote, Chantal, Martin, Jean-Jacques   +1 more
core  

Gut-Brain Interactions in Neuronal Ceroid Lipofuscinoses: A Systematic Review Beyond the Brain in Paediatric Dementias. [PDF]

Int J Mol Sci
Della Vecchia S, Marchese M, Simonati A, Santorelli FM.   +3 more
europepmc   +1 more source

Correction to: Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum. [PDF]

J Biomed Sci, 2020
Huber RJ.
europepmc   +1 more source

Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses

, 2018
Neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, inherited lysosomal storage disorders mostly affecting the central nervous system of children.
Smith, Alexander J, Ali, Robin R, Kleine Holthaus, Sophia-Martha, Mole, Sara E   +3 more
core  

Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications. [PDF]

Pak J Med Sci
Ahdi SG, Alvi JR, Ashfaq A, Sultan T.
europepmc   +1 more source

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses. [PDF]

Front Cell Neurosci
Santucci L, Bernardi S, Vivarelli R, Santorelli FM, Marchese M.   +4 more
europepmc   +1 more source