Results 81 to 90 of about 474 (120)

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy. [PDF]

Ophthalmol Retina, 2020
Wright GA, Georgiou M, Robson AG, Ali N, Kalhoro A, Holthaus SK, Pontikos N, Oluonye N, de Carvalho ER, Neveu MM, Weleber RG, Michaelides M.   +11 more
europepmc   +1 more source

Overview of advances in educational and social supports for young persons with NCL disorders. [PDF]

Biochim Biophys Acta Mol Basis Dis, 2020
Elmerskog B, Tøssebro AG, Atkinson R, Rokne S, Cole B, Ockelford A, Adams HR.   +6 more
europepmc   +1 more source

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes. [PDF]

Int J Mol Sci
Yu M, Vieta-Ferrer ER, Bakdalieh A, Tsai T.   +3 more
europepmc   +1 more source

State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics. [PDF]

J Clin Med
Nebbioso M, Artico M, Gharbiya M, Mannocci A, Limoli PG, Iannetta D, Donato L.   +6 more
europepmc   +1 more source

Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome. [PDF]

J Inherit Metab Dis, 2019
Appu AP, Bagh MB, Sadhukhan T, Mondal A, Casey S, Mukherjee AB.   +5 more
europepmc   +1 more source

Intracellular Protective Functions and Therapeutical Potential of Trehalose. [PDF]

Molecules
Kuczyńska-Wiśnik D, Stojowska-Swędrzyńska K, Laskowska E.   +2 more
europepmc   +1 more source

Gene therapy ameliorates neuromuscular pathology in CLN3 disease. [PDF]

Acta Neuropathol Commun
Ziółkowska EA, Jablonka-Shariff A, Williams LL, Jansen MJ, Wang SH, Eultgen EM, Wood MD, Hunter DA, Sharma J, Sardiello M, Reese R, Pestronk A, Sands MS, Snyder-Warwick AK, Cooper JD.   +14 more
europepmc   +1 more source