Results 111 to 120 of about 3,309 (191)

Sinbaglustat is efficacious in GM2 gangliosidosis primarily through inhibition of GBA2 rather than GCS. [PDF]

Mol Ther Adv
Steiner MA, Vaillant C, Garzotti M, Gulinello M, VanBrakle ML, Ryge J, Mühlemann A, Dobrenis K, Welford RWD.   +8 more
europepmc   +1 more source

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease). [PDF]

Orphanet J Rare Dis, 2020
Davies EH, Johnston J, Toro C, Tifft CJ.
europepmc   +1 more source

3D bioprinted neural scaffolds: a transformative avenue for GM2 gangliosidosis therapy. [PDF]

Ann Med Surg (Lond)
Sheikh M, Khalil MH, Irshad NUN, Talha M, Imran SB.   +4 more
europepmc   +1 more source

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

Correction: Vyas et al. Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis. <i>Int. J. Mol. Sci.</i> 2023, <i>24</i>, 14611. [PDF]

Int J Mol Sci
Vyas M, Deschenes NM, Osmon KJL, Chen Z, Ahmad I, Kot S, Thompson P, Richmond C, Gray SJ, Walia JS.   +9 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

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

Systematic review of autosomal recessive ataxias and proposal for a classification [PDF]

, 2017
Christopher J. Klein, Guy A. Rouleau, Marie Beaudin, Nicolas Dupré   +3 more
core   +1 more source