Results 31 to 40 of about 20,780 (190)

Natural history of Tay-Sachs disease in sheep. [PDF]

Mol Genet Metab, 2021
Story B, Taghian T, Gallagher J, Koehler J, Taylor A, Randle A, Nielsen K, Gross A, Maguire A, Carl S, Johnson S, Fernau D, Diffie E, Cuddon P, Corado C, Chandra S, Sena-Esteves M, Kolodny E, Jiang X, Martin D, Gray-Edwards H.   +20 more
europepmc   +2 more sources

Neurodegeneration with progressive dystonia: Juvenile-onset Tay–Sachs disease [PDF]

Annals of Indian Academy of Neurology, 2022
Jasmine Kaur, Singanamalla Bhanudeep, Ramprabhu G Suresh, Arushi G Saini, Vikas Bhatia   +4 more
doaj   +2 more sources

Tay-Sachs Disease [PDF]

BMJ, 1965
The coming-of-age biochemical neuropathology and neurology has been heralded and accompanied by a shower of publications, including symposia, seminars, and Festschrifte. Not the least of these is this admirable, well-published, and beautifully illustrated volume by the present day proprietors of the most intensely studied hereditary neurovisceral ...
K, Kalra, K C, Singhal, O P, Bansal
  +11 more sources

Choroidal Coloboma in a Case of Tay-Sachs Disease [PDF]

Case Reports in Ophthalmological Medicine, 2014
Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma.
Nasreen Raees Ahmed, Koushik Tripathy, Vivek Kumar, Varun Gogia   +3 more
doaj   +2 more sources

Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease. [PDF]

J Mol Med (Berl), 2018
Chen Y, Jian J, Hettinghouse A, Zhao X, Setchell KDR, Sun Y, Liu CJ.   +6 more
europepmc   +2 more sources

Gene expression changes in Tay–Sachs disease begin early in fetal brain development

Journal of Inherited Metabolic Disease, 2023
Treatment of monogenic disorders has historically relied on symptomatic management with limited ability to target primary molecular deficits. However, recent advances in gene therapy and related technologies aim to correct these underlying deficiencies ...
Sangwoo T Han, Ashley Hirt, Elena-Raluca Nicoli, M. Kono, C. Toro, R. Proia, C. Tifft   +6 more
semanticscholar   +1 more source

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease. [PDF]

JIMD Rep, 2018
Stepien KM, Lum SH, Wraith JE, Hendriksz CJ, Church HJ, Priestman D, Platt FM, Jones S, Jovanovic A, Wynn R.   +9 more
europepmc   +2 more sources

Tay-Sachs disease: case report

Revista de Medicina da UFC, 2020
Objectives: Report a case of Tay-Sachs disease. Methods: A complete ophthalmologic examination, retinography and blood dosage of hexosaminidase A (EHA) activity were performed.
André Tigre Lima, Ricardo Evangelista Marrocos de Aragão, Igor Costa Menezes, Pedro Marques de Mesquita Filho, Lívia Studart de Menezes, Rafael Jorge Alves de Alcântara   +5 more
doaj   +1 more source

An Inducible Mouse Model of Late Onset Tay–Sachs Disease

Neurobiology of Disease, 2002
Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Mylvaganam Jeyakumar, David Smith, Elena Eliott-Smith, Mario Cortina-Borja, Gabriele Reinkensmeier, Terry D. Butters, Thorsten Lemm, Konrad Sandhoff, V.Hugh Perry, Raymond A. Dwek, Frances M. Platt   +10 more
doaj   +1 more source

TAY-SACHS DISEASE HETEROZYGOTE SELECTION [PDF]

, 1978
PIRACICABA UNIV,FAC MED,DEPT PEDIAT,CAMPINAS,BRAZILUNIV São Paulo,FAC MED,DEPT NEUROL,São Paulo,BRAZILWeb of ...
Diamet, A. J., Nishimura, R., Schmidt, Benjamin Jose, Wakamoto, M.   +3 more
core   +1 more source