Results 131 to 140 of about 20,780 (190)

Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease

Experimental Neurology, 2018
V. Seyrantepe, S. Demir, Zehra Kevser Timur, J. V. Gerichten, Christian Marsching, E. Erdemli, E. Oztaş, Kohta Takahashi, K. Yamaguchi, Nurselin Ateş, Buket Demir, T. Dalkara, Katrin Erich, C. Hopf, R. Sandhoff, T. Miyagi   +15 more
semanticscholar   +1 more source

Tay–Sachs Disease

Archivos de pediatria del Uruguay, 2003
C A, BAUZA, A, LYONNET
openaire   +3 more sources

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

Amniocentesis and the Apotheosis of Human Quality Control [PDF]

, 1981
Nolan-Haley, Jacqueline
core   +1 more source

[Tay-Sachs disease].

Revista chilena de pediatria, 1976
F, Novoa, M, Colombo, J, Clericus
openaire   +3 more sources

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

Telemedicine and GM-2 gangliosidosis (Tay-Sachs) disease - A new savior on the horizon during COVID-19 pandemic.

Indian J Ophthalmol, 2021
Grover R, Sutar S, Juneja S.
europepmc   +1 more source

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

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

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease

Human Gene Therapy, 2016
Subha Karumuthil‐Melethil, Sahana Nagabhushan Kalburgi, P. Thompson, M. Tropak, M. D. Kaytor, J. Keimel, B. Mark, D. Mahuran, J. Walia, S. Gray   +9 more
semanticscholar   +1 more source