Results 121 to 130 of about 4,924 (178)

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

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study. [PDF]

Orphanet J Rare Dis
Rodriguez MB, Pulikottil-Jacob R, Heuer K, Perez NG, Waggoner C, Jussila D, Gwaltney C, Krupnick R, Ng-Mak D.   +8 more
europepmc   +1 more source

Cerebrospinal delivery of a bidirectional AAV9 vector improves optic nerve and retinal pathology in a sheep model of Tay-Sachs disease. [PDF]

Mol Ther
Story BD, Thomasy SM, Adelman SA, Taghian T, Lopez Y, Ardon M, Shiraishi H, Khan S, Khan M, Do M, Benatti HR, Bertrand S, Prestigiacomo R, Gately R, Martin DR, Sena-Esteves M, Xie J, Gao G, Teixeira LBC, Shaw GC, Marsh-Armstrong N, Gray-Edwards HL.   +21 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

B4Galnt1 Deficiency Reverses Severe Neurological Symptoms in a Mouse Model of Tay-Sachs Disease. [PDF]

Neuromolecular Med
Yanbul S, Calıskan TU, Turali MC, Seyrantepe V.   +3 more
europepmc   +1 more source

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 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

Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot. [PDF]

Am J Ophthalmol Case Rep
Tsutsumi N, Sakata S, Ikari R, Ebihara N.   +3 more
europepmc   +1 more source

Intrathecal delivery of AAVrh10-mHexa combined with anti-inflammatory treatment reduces neuropathological markers and extends the lifespan of mice with early-onset Tay-Sachs disease. [PDF]

Metab Brain Dis
Can M, Ausseil J, Seyrantepe V.
europepmc   +1 more source