Results 121 to 130 of about 4,924,951 (177)

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

Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models. [PDF]

Int J Mol Sci, 2021
Kot S, Karumuthil-Melethil S, Woodley E, Zaric V, Thompson P, Chen Z, Lykken E, Keimel JG, Kaemmerer WF, Gray SJ, Walia JS.   +10 more
europepmc   +1 more source

Yeast-Produced Human Recombinant Lysosomal β-Hexosaminidase Efficiently Rescues GM2 Ganglioside Accumulation in Tay-Sachs Disease. [PDF]

J Pers Med
Inci OK, Leal AF, Ates N, Súarez DA, Espejo-Mojica AJ, Alméciga-Diaz CJ, Seyrantepe V.   +6 more
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

Precise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective. [PDF]

Mol Ther Nucleic Acids
Hung JE, Brewer RA, Elbakr L, Mollica A, Forguson G, Chan WS, Ivakine EA.   +6 more
europepmc   +1 more source

Tay-Sachs disease

, 2013
Mohammad Taghi Niknejad, Arlene Campos, Daniel Bell   +2 more
openaire   +2 more sources

Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series. [PDF]

Eur J Neurol
Fullam S, Togher Z, Power A, Kennelly L, McHugh JC, O'Dowd S, Tubridy N, Hardiman O, Costigan D, Ryan A, Lefter S, Connolly S, Murphy SM.   +12 more
europepmc   +1 more source

Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis. [PDF]

Front Neurol
Bilyalova A, Shagimardanova E, Bilyalov A, Zaripova M, Shigapova L, Gazizova G, Mazin P, Tatiana B, Gusev O.   +8 more
europepmc   +1 more source

Infantile Monosialoganglioside2 (GM2) Gangliosidosis With Concurrent Bronchopneumonia: An Extraordinary Case of Tay-Sachs Disease. [PDF]

Cureus
Grezenko H, Al-Deir SS, Eshete FD, Faran N, Mimms CS, Ibrahim M.   +5 more
europepmc   +1 more source

Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family. [PDF]

Pak J Med Sci, 2020
Naseer MI, Abdulkareem AA, Jan MM, Chaudhary AG, Al-Qahtani MH.   +4 more
europepmc   +1 more source