Results 141 to 150 of about 6,691 (192)

Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation. [PDF]

Pol J Radiol, 2016
Beker-Acay M, Elmas M, Koken R, Unlu E, Bukulmez A.   +4 more
europepmc   +1 more source

Membrane rafts in T cell activation: A spotlight on CD28 costimulation [PDF]

, 2017
Abrahamsen, Acuto, Ambach, Asanov, August, Bi, Billadeau, Bjørgo, Byrum, Chiang, Chuang, Comrie, Davis, Dennehy, Dupré, Dustin, Eggeling, Esensten, Fischer, Garçon, Gaus, Golub, Gri, Harada, Harder, Harding, Hayashi, Head, Holdorf, Hui, June, Kabouridis, Kallikourdis, Kamphorst, Kenworthy, Kim, Kong, Krawczyk, Kündig, Lasserre, Ledbetter, Lee, Liang, Lichtenberg, Lingwood, Liu, Marengère, Martin, Mayor, Monks, Muscolini, Muscolini, Muscolini, Nakamura, Owen, Paccani, Pagès, Pike, Pike, Pike, Pizzo, Porciello, Porciello, Pralle, Raab, Raab, Raychaudhuri, Resh, Roncagalli, Round, Ruppelt, Russell, Salazar-Fontana, Salomon, Sanchez-Lockhart, Schütz, Shahinian, Sherman, Simons, Simons, Subczynski, Tavano, Tavano, Varma, Varshney, Villalba, Villalba, Viola, Viola, Viola, Viola, von Haller, Watanabe, Yokosuka, Zhang, Zhang   +95 more
core   +1 more source

Myotonic Discharges in Infantile Sandhoff Disease

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
Monica Taing, Chantal Poulin, Kenneth A. Myers   +2 more
openaire   +2 more sources

FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice. [PDF]

Sci Rep, 2017
Ogawa Y, Sano T, Irisa M, Kodama T, Saito T, Furusawa E, Kaizu K, Yanagi Y, Tsukimura T, Togawa T, Yamanaka S, Itoh K, Sakuraba H, Oishi K.   +13 more
europepmc   +1 more source

Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease. [PDF]

J Lipid Res, 2017
Lecommandeur E, Baker D, Cox TM, Nicholls AW, Griffin JL.   +4 more
europepmc   +1 more source

Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates. [PDF]

Mol Ther, 2015
Walia JS, Altaleb N, Bello A, Kruck C, LaFave MC, Varshney GK, Burgess SM, Chowdhury B, Hurlbut D, Hemming R, Kobinger GP, Triggs-Raine B.   +11 more
europepmc   +1 more source

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease. [PDF]

Exp Neurol, 2015
Bradbury AM, Gray-Edwards HL, Shirley JL, McCurdy VJ, Colaco AN, Randle AN, Christopherson PW, Bird AC, Johnson AK, Wilson DU, Hudson JA, De Pompa NL, Sorjonen DC, Brunson BL, Jeyakumar M, Platt FM, Baker HJ, Cox NR, Sena-Esteves M, Martin DR.   +19 more
europepmc   +1 more source

AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system. [PDF]

ASN Neuro, 2015
Rockwell HE, McCurdy VJ, Eaton SC, Wilson DU, Johnson AK, Randle AN, Bradbury AM, Gray-Edwards HL, Baker HJ, Hudson JA, Cox NR, Sena-Esteves M, Seyfried TN, Martin DR.   +13 more
europepmc   +1 more source

Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.

J Pediatr Neurosci, 2017
Gowda VK, Amoghimath R, Srinivasan VM, Bhat M.   +3 more
europepmc   +1 more source

Five-year analysis of efficacy and safety of a bidirectional AAV gene therapy in Tay-Sachs sheep. [PDF]

J Clin Invest
Taghian T, Gallagher J, Bertrand S, Baker WC, Lopez Mercado K, Benatti HR, Hall E, Lopez Y, McElroy A, McCarthy JT, Pulaparthi S, Fernau D, Mather S, Esteves S, Diffie E, Gross A, Lahey HG, Jiang X, Parsley E, Gately R, Prestigiacomo R, Johnson S, Taylor A, Bierfeldt L, Tuominen S, Koehler J, Gao G, Xie J, Su Q, King R, Gounis MJ, Anagnostakou V, Puri A, Batista AR, Sena-Esteves M, Martin DR, Gray-Edwards H.   +36 more
europepmc   +1 more source