Results 101 to 110 of about 3,309 (191)

Tay-Sachs disease: a case report

The Turkish Journal of Pediatrics, 1995
Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A.
A E Arisoy, S Ozden, G Ciliv, I Ozalp
doaj  

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations [PDF]

, 2010
Helena Poupětová, Jana Ledvinová, Linda Berná, Lenka Dvořáková, Viktor Kožich, Milan Elleder   +5 more
core   +1 more source

Ursodeoxycholic Acid Binds PERK and Ameliorates Neurite Atrophy in a Cellular Model of GM2 Gangliosidosis. [PDF]

Int J Mol Sci, 2023
Morales C, Fernandez M, Ferrer R, Raimunda D, Carrer DC, Bollo M.   +5 more
europepmc   +1 more source

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis. [PDF]

Mol Genet Metab, 2021
Rowe OE, Rangaprakash D, Weerasekera A, Godbole N, Haxton E, James PF, Stephen CD, Barry RL, Eichler FS, Ratai EM.   +9 more
europepmc   +1 more source

AAV-based gene therapy with modified HEXB confers lasting therapeutic benefits in GM2 gangliosidosis models

Cell Reports Medicine
Summary: GM2 gangliosidoses, including Tay-Sachs (TSD) and Sandhoff (SD) diseases, are lysosomal storage disorders with neurological manifestations caused by the excessive accumulation of GM2 ganglioside due to the deficiency of the β-hexosaminidase A ...
Keisuke Kitakaze, Yukiya Ohnishi, Daisuke Tsuji, Ryosuke Watanabe, Nijiho Kamori, Yuko Katakai, Hiroaki Shibata, Sota Yoshizawa, Mika Ito, Naomi Takino, Shin-ichi Muramatsu, Kohji Itoh   +11 more
doaj   +1 more source

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

GM2 gangliosidosis, AB variant [PDF]

, 2020
openaire   +3 more sources

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

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

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