Results 131 to 140 of about 3,943 (193)

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

The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. [PDF]

, 2005
Anastasiadou, V, Caciotti, A, Campos, Y, D&apos, Drousiotou, A., Georgiou, T, Morrone, Amelia, Stylianidou, G, Zammarchi, Enrico   +8 more
core   +1 more source

Canine GM1-Gangliosidosis [PDF]

, 2020
openaire   +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

Real-time MR tracking of AAV gene therapy with βgal-responsive MR probe in a murine model of GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev, 2021
Taghian T, Batista AR, Kamper S, Caldwell M, Lilley L, Li H, Rodriguez P, Mesa K, Zheng S, King RM, Gounis MJ, Todeasa S, Maguire A, Martin DR, Sena-Esteves M, Meade TJ, Gray-Edwards HL.   +16 more
europepmc   +1 more source

Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model. [PDF]

Int J Mol Sci
Liu S, Xie T, Huang Y.
europepmc   +1 more source

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis. [PDF]

Front Genet
Zagaynova VA, Nasykhova YA, Tonyan ZN, Danilova MM, Dvoynova NM, Lazareva TE, Ivashchenko TE, Shabanova ES, Krikheli IO, Lesik EA, Bespalova ON, Kogan IY, Glotov AS.   +12 more
europepmc   +1 more source

Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabolism 2025 Mar;144(3):109025]. [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

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE). [PDF]

Orphanet J Rare Dis
Héron B, Batzios S, Mengel E, Giugliani R, Patterson M, Gautschi M, Cornelisse P, Trokan L, Schwierin B, Rohrbach M.   +9 more
europepmc   +1 more source

Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. [PDF]

, 2006
Dimaio, D, Goodwin, Ec, Han, Ja, Hwang, Es, Im, Js, Johung, K, Kleijer, Wj, Lee, By, Morrone, Amelia   +8 more
core   +1 more source