Results 121 to 130 of about 15,504 (206)

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

Canine GM1-Gangliosidosis [PDF]

, 2020
openaire   +1 more source

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent <i>IDUA</i> Allele in Colombia. [PDF]

Int J Mol Sci
Vanegas S, Ramírez-Montaño D, Padilla-Guzmán A, Pachajoa H.   +3 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

Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population [PDF]

, 2006
Chandler, D., Gooding, R., Hassanova, I., Kalaydjieva, L., Kremensky, I., Morrone, Amelia, Sinigerska, I., Vaghjiani, V.   +7 more
core   +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

Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds. [PDF]

Molecules
Abidi I, Kocev AN, Babulic JL, Capicciotti CJ, Walia J, Brockhausen I.   +5 more
europepmc   +1 more source

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. [PDF]

, 2004
Caciotti, A, Campos, Y, D&apos, Drousiotou, A, Georgiou, T, Gururaj, A, Morrone, Amelia, Ozand, P, Sztriha, L, Zammarchi, Enrico   +9 more
core   +1 more source

GM1 gangliosidosis type 3 [PDF]

, 2020
openaire   +1 more source

Editorial: Role of neuroimaging in the diagnosis and treatment of rare diseases. [PDF]

Front Neuroimaging
Shazeeb MS, Acosta MT, Tifft CJ.
europepmc   +1 more source