Results 71 to 80 of about 2,912 (167)

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials

Neurotherapeutics
Leukodystrophies are progressive single gene disorders affecting the white matter of the brain. Several gene therapy trials are in progress to address the urgent unmet need for this patient population.
Jasna Metovic, Yedda Li, Yi Gong, Florian Eichler   +3 more
doaj   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

GM2 activator protein deficiency, mimic of Tay-Sachs disease

, 2017
GM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal cells.
Sheela Nampoothiri, Natasha Radhakrishnan, Dhanya Yesodharan, KP Vinayan, Jayesh Sheth, Sheena Kochumon   +5 more
core   +1 more source

Long Term Correction of GM2 Gangliosidoses in Sandhoff Mice Through Intravenous Neonatal Gene Therapy, Using a Recombinant Adeno-Associated Viral Vector Expressing a New Hexosaminidase Variant

, 2015
Thesis (Master, Neuroscience Studies) -- Queen's University, 2015-12-11 17:45:21.072GM2 gangliosidoses are a group of neurodegenerative disorders, characterized by the malfunctioning β-Hexosaminidase A (HexA) enzyme, for which there is no current ...
Osmon, Karalaina
core  

Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases. [PDF]

J Neurol
Lewis CJ, Shirvan L, Johnston JM, Groden C, Yang J, Ashton A, Chong J, Moran M, Akmal H, Chipman SI, Zampieri C, Wickstrom J, Matsubara J, Lehky T, Alter KE, Toro C, Tifft CJ.   +16 more
europepmc   +1 more source

Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review. [PDF]

Mol Syndromol
Calisgan K, Aghakıshılı HB, Soylu EI, Col TA, Cansever MS, Zubarioglu T, Aktuglu Zeybek AC, Kiykim E.   +7 more
europepmc   +1 more source

GM2 gangliosidoses

, 2020
openaire   +1 more source

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis. [PDF]

Hum Genomics
Bolte A, Velmans C, Netzer C, Thimm E, Tuncel AT, Bürger F, Hiersche M, Betz C, Bolz HJ.   +8 more
europepmc   +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

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View. [PDF]

Metabolites
Di Carlo G, Tommolini ML, Frisco A, Spalluto G, Foley D, Zucchelli M, Cufaro MC, Cicalini I, Bucci I, Federici L, De Laurenzi V, Pieragostino D, Rossi C.   +12 more
europepmc   +1 more source