Results 131 to 140 of about 3,309 (181)

Sequencing the Genome of the Domestic Cat Felis catus [PDF]

, 2002
Giger, Urs, Haskins, M. E., Lander, Eric S., Menotti-Raymond, Marilyn, Murphy, William J., O\u27Brien, Stephen J., Pederson, Niels C., Wildt, David E., Yuhki, Naoya   +8 more
core   +1 more source

Bioprinting neural tissue to decode Sandhoff disease: promise and barriers. [PDF]

Ann Med Surg (Lond)
Ullah SH, Waqas M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses. [PDF]

Biol Open
Barker EN, Ashiri M, Saville JT, Hemming R, Furletti N, Dhume SH, Yu S, Anjos E, Wu X, Fresnoza A, Merz DC, Jackson M, Del Bigio MR, Siddiqui TJ, Fuller M, Mark BL, Triggs-Raine B.   +16 more
europepmc   +1 more source

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease. [PDF]

Neurol Int
González-Sánchez M, Ramírez-Expósito MJ, Martínez-Martos JM.   +2 more
europepmc   +1 more source

Synthesis, function, and therapeutic potential of glycosphingolipids. [PDF]

Front Immunol
Dong L, Cao Z, Han W, Wu Z.
europepmc   +1 more source

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 more
europepmc   +1 more source

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

Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases. [PDF]

Mol Genet Metab
Kell P, Mishra S, Gray-Edwards HL, Martin DR, Gaudioso A, Ledesma MD, Bongarzone ER, Sands MS, Sidransky E, Ory DS, Jiang X.   +10 more
europepmc   +1 more source

Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]

J Community Genet
Trapp FB, Riegel M, Michelin-Tirelli K, da Silva LAL, Iop GD, Bender-Pasetto F, Sebastião FM, da Silva Moraes I, Lopes FF, Dos Santos ORT, da Rosa Pereira F, Silva LP, Luiz AA, da Silva CA, Lucas KDP, Netto ABO, Brasil CS, Leistner S, Brusius-Facchin AC, Deon M, Civallero GES, Giugliani R.   +21 more
europepmc   +1 more source

Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency. [PDF]

Mol Genet Metab
Beecy SJ, Gross AL, Maguire AS, Hoffman LMK, Diffie EB, Cuddon P, Kell P, Jiang X, Gray-Edwards HL, Martin DR.   +9 more
europepmc   +1 more source