Results 121 to 130 of about 4,207 (192)

Development of Small-Molecule Allosteric Modulators of Beta-Galactosidase (β-Gal) for the Treatment of GM1 Gangliosidosis and Morquio B. [PDF]

Int J Mol Sci
Pérez-Carmona N, Cubero E, Ruano A, Pons-Vizcarra M, Delgado A, Trapero A, Reves M, Rodríguez-Pascau L, Taylor J, Martinell M, Barril X, García-Collazo AM.   +11 more
europepmc   +1 more source

Extensive Telangiectasias and Mongolian Spots: A Clue towards GM1-Gangliosidosis.

Indian J Dermatol, 2023
Gupta S, Patel V, Garg S, Mehta N.
europepmc   +1 more source

From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis. [PDF]

Free Neuropathol, 2023
Kasper BS, Thomas C, Albers A, Kasper EM, Sandhoff K.   +4 more
europepmc   +1 more source

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

core   +1 more source

Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Roy S, Arora C, Holla VV, Prasad S, Phulpagar P, Kamble N, Muthusamy B, Saini J, Yadav R, Pal PK.   +9 more
europepmc   +1 more source

Impact of Sinbaglustat on Neurons of the Medial Nucleus of the Trapezoid Body in a Murine Model of Human G_M1-Gangliosidosis. [PDF]

J Clin Med
Jubran L, Wannemacher R, Baumgärtner W, Felmy F, Steiner MA, Leitzen E, Kladisios N.   +6 more
europepmc   +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

DNA testing and domestic dogs [PDF]

, 2011
Cathryn Mellersh
core   +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

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients. [PDF]

Mol Genet Metab
Kolstad J, Zoppo C, Johnston JM, D'Souza P, Kühn AL, Vardar Z, Peker A, Hader A, Celik H, Lewis CJ, Lindsay C, Rentiya ZS, Lebel C, Vedantham S, Vachha B, Gray-Edwards HL, Acosta MT, Tifft CJ, Shazeeb MS.   +18 more
europepmc   +1 more source