Results 171 to 180 of about 2,137 (206)

Neuropathology of Late Onset Gangliosidoses

Developmental Neuroscience, 1991
Neuropathological features of late onset gangliosidoses are reviewed. Although neuropathological studies are carried out on limited numbers of late onset cases, it appears that electron-dense ...
openaire   +1 more source

Spontaneous Gangliosidoses in Animals

1975
During the past two decades, an increasing number of reports have appeared in the literature which have dealt with diseases considered to be the counterpart of human gangliosidoses. Thus for the first time, in 1953, Hagen1 described clinical and pathological features of two cases of “amaurotic idiocy” in English setters.
openaire   +1 more source

Genome editing on GM2 gangliosidoses fibroblasts using CRISPR/nCas9

Molecular Genetics and Metabolism, 2022
A. Leal, A. Espejo-Mojica, C. Alméciga-Díaz   +2 more
semanticscholar   +1 more source

P.75 GM2 Gangliosidoses patient journey: Results from interviews with Late-Onset GM2 patients and frontline treaters

Neuromuscular Disorders, 2022
M. Lopshire, A. Flores, J. Burns, R. Gould, I. Batsu   +4 more
semanticscholar   +1 more source

Characterization of a late-infantile subtype in GM2-gangliosidosis: First result of the German “Eight at One Stroke: Attention Gangliosidoses” registry

Molecular Genetics and Metabolism, 2022
E. Mengel, M. Ries, Grecia Mendoza, Laila Arash-Kaps, Yasmina Amraoui, Birgit Hardt, Folker Quack, M. Beck   +7 more
semanticscholar   +1 more source

Identification of late-onset GM2 gangliosidoses (LOGG) patients using Optum's de-identified Market Clarity Database

Molecular Genetics and Metabolism, 2022
Camille Rochmann, S. Kabadi, M. Petrović, A. Flores   +3 more
semanticscholar   +1 more source

Venglustat in GM2 Gangliosidoses and Related Disorders: Results of the AMETHIST Randomized Controlled and Basket Trials.

Genetics in Medicine
C. Tifft, Isabela Batsu, Roberto Giugliani, H. Goyeau, Andreas Hahn, Simon A. Jones, P. Minini, Ichiro Nakashima, Mar O’Callaghan, Susan Perlman, Nathan Thibault, Madhurima Uppara Kowthalam, Riliang Zheng, T. M. Cox   +13 more
semanticscholar   +1 more source

GM2-gangliosidoses

2015
Gregory M. Pastores, Gustavo H.B. Maegawa   +1 more
openaire   +1 more source

Gangliosidoses: Understanding disease evolution in GM1 and GM2

Molecular Genetics and Metabolism
Roberto Giugliani, P. Harmatz, Bénédicte Héron, Andreas Hahn, Marc Patterson, Aurélie Bourchany, Daniel A.D. Valle, R. Barone, Brigitte Chabrol, Anna Ardissone, S. Batzios, Maurizio Scarpa, Susanne A Schneider, Nicoleta Carp, Christian Freitag, Aidan Gill, L. L. de Frutos   +16 more
semanticscholar   +1 more source

EPH8 Natural History and Burden of Disease Among Patients With Juvenile GM2 Gangliosidoses in France

Value in Health
Daisy Ng-Mak, Sarah Ba, S. Pichard, L. Watier, Leila Alaoui Sosse, Sarah Bakiri, Camille Berenguier, Patricia Viard, Y. Nadjar   +8 more
semanticscholar   +1 more source