Results 101 to 110 of about 4,924 (178)

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

Unusual presentation of GM2 gangliosidosis mimicking a brain stem tumor in a 3-year-old girl

, 2003
We report a case of GM2 gangliosidosis revealed by MR imaging of an isolated brain stem abnormality in a 3-year-old girl referred for gait difficulties related to ataxia and pyramidal signs. Brain MR imaging displayed a brain stem lesion with high signal
Saudubray, Jean-Marie, Nassogne, Marie-Cécile, Emond, Sophie, Caillaud, Catherine, Lellouch-Tubiana, Arielle, Hertz-Pannier, Lucie, Commare, Marie-Christine, Zerah, Michel   +7 more
core  

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

Sinbaglustat is efficacious in GM2 gangliosidosis primarily through inhibition of GBA2 rather than GCS. [PDF]

Mol Ther Adv
Steiner MA, Vaillant C, Garzotti M, Gulinello M, VanBrakle ML, Ryge J, Mühlemann A, Dobrenis K, Welford RWD.   +8 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

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

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

Correction: Vyas et al. Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis. <i>Int. J. Mol. Sci.</i> 2023, <i>24</i>, 14611. [PDF]

Int J Mol Sci
Vyas M, Deschenes NM, Osmon KJL, Chen Z, Ahmad I, Kot S, Thompson P, Richmond C, Gray SJ, Walia JS.   +9 more
europepmc   +1 more source

Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation. [PDF]

Cerebellum
Rowe OE, Rangaprakash D, Eichler FS, Schmahmann JD, Barry RL, Stephen CD.   +5 more
europepmc   +1 more source