Results 111 to 120 of about 3,309 (181)

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. [PDF]

Nat Med
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR.   +35 more
europepmc   +1 more source

VaProS: a database-integration approach for protein/genome information retrieval [PDF]

core   +1 more source

Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation. [PDF]

Cerebellum
Rowe OE, Rangaprakash D, Eichler FS, Schmahmann JD, Barry RL, Stephen CD.   +5 more
europepmc   +1 more source

Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases. [PDF]

J Neurol
Lewis CJ, Chipman SI, Johnston JM, Acosta MT, Toro C, Tifft CJ.   +5 more
europepmc   +1 more source

A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis. [PDF]

Anal Bioanal Chem
Kim J, Byeon SK, Oglesbee D, Schultz MJ, Matern D, Pandey A.   +5 more
europepmc   +1 more source

4-Phenylbutyric acid mitigates ER stress-induced neurodegeneration in the spinal cords of a GM2 gangliosidosis mouse model. [PDF]

Hum Mol Genet
Weaver FE, White E, Peek AM, Nurse CA, Austin RC, Igdoura SA.   +5 more
europepmc   +1 more source

Elevated plasma chitotriosidase activity in various lysosomal storage disorders [PDF]

, 1995
Aerts, J.M.F.G. (Johannes), Boer, A.M., Bruijn, A.M. (A.) de, Diggelen, O.P. (Otto) van, Galjaard, H. (Hans), Groener, J.E.M. (Johanna), Guo, Y. (Yongli), He, W. (Wanyuan), Hollak, C.E.M. (Carla), Wevers, R.A. (Ron)   +9 more
core   +1 more source

GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. [PDF]

J Vet Intern Med, 2017
Kolicheski A, Johnson GS, Villani NA, O'Brien DP, Mhlanga-Mutangadura T, Wenger DA, Mikoloski K, Eagleson JS, Taylor JF, Schnabel RD, Katz ML.   +10 more
europepmc   +1 more source

Infantile Monosialoganglioside2 (GM2) Gangliosidosis With Concurrent Bronchopneumonia: An Extraordinary Case of Tay-Sachs Disease. [PDF]

Cureus
Grezenko H, Al-Deir SS, Eshete FD, Faran N, Mimms CS, Ibrahim M.   +5 more
europepmc   +1 more source

Integrated Computational Analysis Highlights unique miRNA Signatures in the Subventricular Zone and Striatum of GM2 Gangliosidosis Animal Models. [PDF]

Int J Mol Sci, 2019
Morena F, Oikonomou V, Argentati C, Bazzucchi M, Emiliani C, Gritti A, Martino S.   +6 more
europepmc   +1 more source