Results 121 to 130 of about 6,691 (192)

Subacute Juvenile Sandhoff Disease: A Progressive Neurodegenerative Disorder. [PDF]

Int J Clin Pediatr Dent
Kadam BD, Jampanapalli SR, Ranganathan R, Rayella H.   +3 more
europepmc   +1 more source

A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]

, 2015
Bradbury, Allison M, Casal, Margret L, Gurda, Brittney L, Haskins, Mark E, Ponder, Katherine P, Vite, Charles H   +5 more
core   +2 more sources

Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease. [PDF]

J Funct Biomater
Calzoni E, Cerrotti G, Sagini K, Delo F, Buratta S, Pellegrino RM, Alabed HBR, Fratini F, Emiliani C, Urbanelli L.   +9 more
europepmc   +1 more source

Cinnamic acid, a natural plant compound, exhibits neuroprotection in a mouse model of Sandhoff disease via PPARα. [PDF]

NeuroImmune Pharm Ther
Raha S, Paidi RK, Dutta D, Pahan K.
europepmc   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +1 more source

Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome. [PDF]

Acta Epileptol
Zhang Q, Zou L, Lu Q, Wang Q, Dun S, Wang J.   +5 more
europepmc   +1 more source

AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease) [PDF]

, 2018
et al,, Jiang, Xuntain, Ory, Daniel S
core   +1 more source

Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity. [PDF]

Mol Ther, 2019
Marshall J, Nietupski JB, Park H, Cao J, Bangari DS, Silvescu C, Wilper T, Randall K, Tietz D, Wang B, Ying X, Leonard JP, Cheng SH.   +12 more
europepmc   +1 more source

Intrathecal delivery of a bicistronic AAV9 vector expressing β-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study. [PDF]

Mol Ther Methods Clin Dev
Ryckman AE, Deschenes NM, Quinville BM, Osmon KJL, Mitchell M, Chen Z, Gray SJ, Walia JS.   +7 more
europepmc   +1 more source

An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty. [PDF]

Ann Rehabil Med, 2017
Moon JG, Shin MA, Pyo H, Choi SU, Kim HK.   +4 more
europepmc   +1 more source