Results 121 to 130 of about 7,809 (216)

Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases. [PDF]

Brain Commun
Lewis CJ, Vardar Z, Kühn AL, Johnston JM, D'Souza P, Yousef MH, Gahl WA, Shazeeb MS, Tifft CJ, Acosta MT.   +9 more
europepmc   +1 more source

VaProS: a database-integration approach for protein/genome information retrieval [PDF]

core   +1 more source

Zur intrinsischen Sauerstoffaffinität: die Primärstruktur eines weiteren Ruminata Hämoglobins. Methionin in βNA2 eines Stirnwaffenträgers, des Nordland-Elches (Alces alces alces). [PDF]

, 1984
Aschauer, H., Braunitzer, G., Wiesner, Henning   +2 more
core   +1 more source

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Bhat S, Sharma S, Bhat S, Kaul A.
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

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

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

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

Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies. [PDF]

Front Med (Lausanne)
Ye Y, Wang X, He Y, Ning H, Zhang Z, Tao F, Zou Z, Fang Q, Chen Z, Tian X, Hao X.   +10 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