Results 81 to 90 of about 2,912 (144)

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

Bioprinting neural tissue to decode Sandhoff disease: promise and barriers. [PDF]

Ann Med Surg (Lond)
Ullah SH, Waqas M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Plasma Membrane Remodelling in GM2 Gangliosidoses Drives Synaptic Dysfunction

Nicholson AS, Priestman DA, Antrobus R, Williamson JC, Bush R, Barrow HG, Smith E, Dobrenis K, Bright NA, Platt FM, Deane JE.   +10 more
europepmc   +1 more source

Modeling Tay-Sachs Disease in Astrocyte-like Cells Reveals Significant Changes in the Transcriptomic Profile. [PDF]

Int J Mol Sci
Suárez-García DA, Espejo-Mojica AJ, Alméciga-Díaz CJ.   +2 more
europepmc   +1 more source

[Late-onset manifestation of Tay-Sachs disease-A disease of the cerebellum and motor neurons with psychiatric sequelae]. [PDF]

Nervenarzt
Mengel KE, Mendoza G, Mani L, Deckert J, Arash-Kaps L.   +4 more
europepmc   +1 more source

Application of Mesenchymal Stromal Cells and Their Exosomes in Neurodegenerative Diseases and Lysosomal Storage Diseases. [PDF]

Cells
Ayupova AI, Sidorova AS, Luzina EA, Sufianov AA, Sufianova GZ, Zaynutdinov AM, Rizvanov AA, Solovyeva VV.   +7 more
europepmc   +1 more source

Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models. [PDF]

Acta Neuropathol Commun
Tang Y, Shan D, Wang H, Ji X, Jiao Y, Li J, Zhan Z, Liu S, Sun X, Lin P, Xu J, Wang D, Sun X, Yan C, Zhao Y, Liu F.   +15 more
europepmc   +1 more source