Results 81 to 90 of about 2,424 (142)

Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient. [PDF]

CRISPR J, 2023
Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, Dubourg C, Etcheverry A, Levade T, Froissart R, Dréano S, Guillory X, Eriksson LA, Launay E, Mouriaux F, Belaud-Rotureau MA, Odent S, Gilot D.   +17 more
europepmc   +1 more source

A propósito de un caso de gangliosidosis GM-2 tipo II: enfermedad de Sandhoff

Revista Médica Electrónica, 2015
Las gangliosidosis son un conjunto de enfermedades hereditarias de almacenamiento lisosómico, debidas a un acúmulo de gangliósidos, sobre todo en las neuronas.
Irelis González López, Enrique Marcos Sierra Benítez, Mairiannys Quianella León Pérez, Mayra Luz Leiva González, Samia Hernández Dreke, Yadiel González Fernández   +5 more
doaj  

GM1-Gangliosidosis Type III Associated Parkinsonism. [PDF]

Mov Disord Clin Pract, 2021
Kaiyrzhanov R, Guliyeva U, Gulieva S, Salayev K, Mursalova A, Allahyarova P, Ferla MP, Houlden H.   +7 more
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

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

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

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

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

A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy. [PDF]

Exp Biol Med (Maywood), 2021
Liu S, Feng Y, Huang Y, Jiang X, Tang C, Tang F, Zeng C, Liu L.   +7 more
europepmc   +1 more source

GM1 gangliosidosis type II: Results of a 10-year prospective study. [PDF]

Genet Med
D'Souza P, Farmer C, Johnston JM, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan CP, Myles J, Nicoli ER, Rothermel CE, Mojica Algarin Y, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier DS, Brooks BP, Acosta MT, Baker EH, Vézina G, Thurm A, Tifft CJ.   +28 more
europepmc   +1 more source