Results 151 to 160 of about 6,625 (209)

Nerve growth factor (NGF) [PDF]

, 1989
Azzi, Angelo, Borasio, Gian Domenico, Drahota, S., Heumann, R., Lindholm, D., Papa, S., Thoenen, Hans   +6 more
core  

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

Normalization of hepatic homeostasis in the Npc1nmf164 mouse model of Niemann-Pick type C disease treated with the histone deacetylase inhibitor vorinostat [PDF]

, 2017
al, et, Ory, Daniel S.
core   +1 more source

Inter-alpha-Trypsin Inhibitor of Human Serum [PDF]

, 1983
Bittner, A., Jochum, Marianne
core  

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

Microglia-neuron crosstalk through Hex-GM2-MGL2 maintains brain homeostasis. [PDF]

Nature
Frosch M, Shimizu T, Wogram E, Amann L, Gruber L, Groisman AI, Fliegauf M, Schwabenland M, Chhatbar C, Zechel S, Rosewich H, Gärtner J, Quintana FJ, Buescher JM, Blank T, Binder H, Stadelmann C, Letzkus JJ, Hopf C, Masuda T, Knobeloch KP, Prinz M.   +21 more
europepmc   +1 more source

Intrathecal delivery of AAVrh10-mHexa combined with anti-inflammatory treatment reduces neuropathological markers and extends the lifespan of mice with early-onset Tay-Sachs disease. [PDF]

Metab Brain Dis
Can M, Ausseil J, Seyrantepe V.
europepmc   +1 more source

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Thalamic hyperdensity — is it a diagnostic marker for Sandhoff disease?

Brain and Development, 1993
Sandhoff disease, also known as GM2-gangliosidoses variant 0, is caused by the deficient activity of both hexosaminidase A and hexosaminidase B. We report a 15-month-old boy diagnosed with Sandhoff disease by demonstrating the enzyme deficiency. The interesting finding was bilateral thalamic hyperdensity on the CT scan.
Meral Özmen, Michael Beck, M Çalişkan   +2 more
exaly   +3 more sources