Results 161 to 170 of about 4,913 (183)

Intrafamilial variability in late-onset CLN2 disease

Molecular Genetics and Metabolism, 2020
Sharan Goobie, Jillian Bujold, Sarah Dyack   +2 more
openaire   +1 more source

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

Pediatric endocrinology reviews : PER, 2016
CLN2 disease is an inherited metabolic storage disorder caused by the deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1). The disease affects mainly the brain and the retina and is characterized by progressive dysfunction of the central nervous system, leading to dementia, epilepsy, loss of motor function and blindness.
Alfried, Kohlschütter, Angela, Schulz
openaire   +1 more source

Expert opinion on the management of CLN2 disease

Molecular Genetics and Metabolism, 2016
TOPÇU, MERAL, Williams, Ruth E., West, Andrea, von Loebbecke, Ina, Specchio, Nicola, Sims, Katherine, Shediac, Renee, Nickel, Miriam, Mink, Jonathan W., Mikhailova, Svetlana, Leung, Mary-Anne, Lehwald, Lenora, Lawson, John, Kofler, Annamaria, Kiss, Szilard, Guelbert, Norberto, Frazier, Margie, Fairhurst, Charlie, Drago, Kristen, Denecke, Jonas, de los Reyes, Emily, Cohen-Pfeffer, Jessica L., Blohm, Martin, Adams, Heather R., Schulz, Angela   +24 more
openaire   +2 more sources

METHODS FOR TREATING CLN2 DISEASE IN PEDIATRIC SUBJECTS

2021
JACOBY DAVID, HENSHAW JOSHUA
openaire   +5 more sources

Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report

Documenta Ophthalmologica, 2021
Florence Rigaudière, Stéphane Auvin
exaly  

Provoked seizures might lead to a significant diagnosis delay in CLN2

European Journal of Paediatric Neurology, 2022
openaire   +2 more sources

A comparative study of the degradation of yeast cyclins Cln1 and Cln2

FEBS Open Bio, 2017
J CARLOS Igual, Inma Quilis
exaly  

Enzyme replacement therapy attenuates disease progression in a canine model of late‐infantile neuronal ceroid lipofuscinosis (CLN2 disease)

Journal of Neuroscience Research, 2014
Jacob Taylor, Martin Katz
exaly  

The expression of late infantile neuronal ceroid lipofuscinosis (CLN2) gene product in human brains

Neuroscience Letters, 1998
Masashi Mizuguchi, A Oka
exaly  

CLN2 TREATMENT OF ALZHEIMER'S DISEASE

2008
MAXFIELD FREDERICK, LOBEL PETER
openaire   +1 more source