Results 111 to 120 of about 1,277 (157)

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   +1 more source

Subacute Juvenile Sandhoff Disease: A Progressive Neurodegenerative Disorder. [PDF]

Int J Clin Pediatr Dent
Kadam BD, Jampanapalli SR, Ranganathan R, Rayella H.   +3 more
europepmc   +1 more source

Linking glycosphingolipid metabolism to disease-related changes in the plasma membrane proteome. [PDF]

Biochem Soc Trans
Monkhouse H, Deane JE.
europepmc   +1 more source

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay-Sachs Disease. [PDF]

Pharmaceutics
Guerrero-Vargas JM, Suarez-Garcia DA, Leal AF, Diaz-Ariza IL, Pérez-Pérez LD, Espejo-Mojica AJ, Alméciga-Díaz CJ.   +6 more
europepmc   +1 more source

Surrogate Biomarkers in Gene Therapy for Orphan Diseases: Validation, Application, and Regulatory Aspects. [PDF]

Int J Mol Sci
Ayupova AI, Solovyeva VV, Issa SS, Fayoud HJ, Rizvanov AA.   +4 more
europepmc   +1 more source

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2015
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells. [PDF]

Neural Regen Res
Shaimardanova AA, Chulpanova DS, Solovyeva VV, Issa SS, Mullagulova AI, Titova AA, Mukhamedshina YO, Timofeeva AV, Aimaletdinov AM, Nigmetzyanov IR, Rizvanov AA.   +10 more
europepmc   +1 more source

CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice. [PDF]

J Clin Invest
Allende ML, Kono M, Lee YT, Olmsted SM, Huso V, Bakir JY, Pratto F, Li C, Byrnes C, Tuymetova G, Zhu H, Tifft CJ, Proia RL.   +12 more
europepmc   +1 more source

Microglia-neuron crosstalk through Hex-GM2-MGL2 maintains brain homeostasis. [PDF]

Nature
Frosch M, Shimizu T, Wogram E, Amann L, Gruber L, Groisman AI, Fliegauf M, Schwabenland M, Chhatbar C, Zechel S, Rosewich H, Gärtner J, Quintana FJ, Buescher JM, Blank T, Binder H, Stadelmann C, Letzkus JJ, Hopf C, Masuda T, Knobeloch KP, Prinz M.   +21 more
europepmc   +1 more source

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Bhat S, Sharma S, Bhat S, Kaul A.
europepmc   +1 more source