Results 131 to 140 of about 4,843,979 (151)

LINCE project: A fast diagnosis of CLN2 disease

Molecular Genetics and Metabolism, 2020
Pablo Crujeiras, Daniel C. Rodrigues, José Cocho, Maria Luz Couce Pico, Cristobal Colon Mejeras   +4 more
openaire   +1 more source

Intrafamilial variability in late-onset CLN2 disease

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

Possibilities for an early diagnosis of CLN2-disease

Molecular Genetics and Metabolism, 2016
Simona Murko, René Santer, Alfried Kohlschuetter, Miriam Nickel, Angela Schulz, Zoltan Lukacs   +5 more
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

Loss of visual function associated with photoreceptor degeneration in CLN2 disease

Molecular Genetics and Metabolism, 2023
Christina Ohnsman, Wei Chieh Huang, Yevgeniya Atiskova, Jan Wildner, Paulo Falabella, Angela Schulz, Simon Dulz   +6 more
openaire   +1 more source

METHODS FOR TREATING CLN2 DISEASE IN PEDIATRIC SUBJECTS

2021
JACOBY DAVID, HENSHAW JOSHUA
openaire   +5 more sources

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  

GENE THERAPY FOR OCULAR MANIFESTATIONS OF CLN2 DISEASE

2022
OHNSMAN CHRISTINA, PAKOLA STEPHEN, VAN EVEREN SHERRI, FALABELLA PAULO, BAILEY ALEXANDER, BUSS NICHOLAS, KIM KWI   +6 more
openaire   +1 more source

Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

Case Medical Research, 2019
openaire   +1 more source

Natural History of CLN2 Disease: Quantitative Assessment of Disease Characteristics and Rate of Progression

Neuropediatrics, 2016
M. Nickel, D. Jacoby, S. Lezius, M. Down, A. Simonati, F. Genter, J. Wittes, A. Kohlschütter, A. Schulz   +8 more
openaire   +1 more source