Results 101 to 110 of about 3,309 (181)

Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis. [PDF]

J Neurol, 2021
Hölzer HT, Boschann F, Hennermann JB, Hahn G, Hermann A, von der Hagen M, Tüngler V.   +6 more
europepmc   +1 more source

Intrathecal delivery of a bicistronic AAV9 vector expressing β-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study

Molecular Therapy: Methods & Clinical Development
The pathological accumulation of GM2 ganglioside associated with Tay-Sachs disease (TSD) and Sandhoff disease (SD) occurs in individuals who possess mutant forms of the heterodimer β-hexosaminidase A (Hex A) because of mutation of the HEXA and HEXB genes,
Alex E. Ryckman, Natalie M. Deschenes, Brianna M. Quinville, Karlaina J.L. Osmon, Melissa Mitchell, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia   +7 more
doaj   +1 more source

GM2 gangliosidosis, AB variant [PDF]

, 2020
openaire   +3 more sources

Lyso-GM2 Ganglioside : A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease [PDF]

, 2011
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified ...
00184656, 00423400, 10943/profile-ja.html, 166, 202, Ishida, Yo-ichi, Itou, Kouji, Kawashima, Ikuo, Kitakaze, Keisuke, Kodama, Takashi, Matsuoka, Kazuhiko, Sakuraba, Hitoshi, Suzuki, Minoru, Suzuki, Toshihiro, Togawa, Tadayasu, Tsuji, Daisuke, Tsukimura, Takahiro, イトウ, コウジ, ツジ, ダイスケ, 伊藤, 孝司, 辻, 大輔   +20 more
core  

Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis. [PDF]

Neurology, 2020
Stephen CD, Balkwill D, James P, Haxton E, Sassower K, Schmahmann JD, Eichler F, Lewis R.   +7 more
europepmc   +1 more source

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset. [PDF]

Neurology
Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M.   +12 more
europepmc   +2 more sources

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease). [PDF]

Orphanet J Rare Dis, 2020
Davies EH, Johnston J, Toro C, Tifft CJ.
europepmc   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +1 more source

GM2 Gangliosidosis AB Variant: A Hidden Truth. [PDF]

Cureus
Noites I, Coelho AS, Magalhães C, Ramos S, Laranjeira F, Lacerda L, Taipa R, Garrido C, Temudo T, Figueiroa S.   +9 more
europepmc   +1 more source

3D bioprinted neural scaffolds: a transformative avenue for GM2 gangliosidosis therapy. [PDF]

Ann Med Surg (Lond)
Sheikh M, Khalil MH, Irshad NUN, Talha M, Imran SB.   +4 more
europepmc   +1 more source