Results 91 to 100 of about 2,653 (156)

Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism. [PDF]

Mov Disord Clin Pract, 2021
Kurian MA, Kaiyrzhanov R, Allahyarova P, Guliyeva U, Gulieva S, Salayev K, Mursalova A, Ferla MP, Houlden H, Cardoso F.   +9 more
europepmc   +1 more source

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

Erratum: Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev, 2022
Tsunogai T, Ohashi T, Shimada Y, Higuchi T, Kimura A, Watabe AM, Kato F, Ida H, Kobayashi H.   +8 more
europepmc   +1 more source

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. [PDF]

Front Pediatr
Zhong G, Wang K, Liao K, Xie Q, Chen J, Yu R.   +5 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

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

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

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

Canine GM1-Gangliosidosis [PDF]

, 2020
openaire   +1 more source