Results 101 to 110 of about 2,653 (156)

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

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

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

Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev
Quadrini KJ, Vrentas C, Duke C, Wilson C, Hinderer CJ, Weinstein DA, Al-Zaidy SA, Browne SE, Wilson JM, Ni YG.   +9 more
europepmc   +1 more source

Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of G_M1-gangliosidosis. [PDF]

Sci Rep
Jubran L, Wannemacher R, Ulianytska A, Gerhauser I, Baumgärtner W, Leitzen E.   +5 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Neuroimaging findings in infantile GM1 gangliosidosis

European Journal of Paediatric Neurology, 2006
GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. Three clinical forms (infantile-, juvenile-, and adult-onset) of the disease are recognized. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with somatic and bony changes, followed by ...
Ilknur Erol, Oguz Canan, Fusun Alehan
exaly   +3 more sources