نتایج جستجو برای: tay sachs disease
تعداد نتایج: 1492516 فیلتر نتایج به سال:
Tay-Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene. Very little is known about the molecular pathology of TSD in Indian children except for a few mutations identified by us. The present study is aimed to determine additional mutations leading to Tay-Sachs disease ...
In a previous study we found that a Tay-Sachs disease (TSD) causing mutation in the intron 9 donor splice site of the HEXA gene occurs at high frequency in non-Jewish patients and carriers from the British Isles. It was found more frequently in subjects of Irish, Scottish, and Welsh origin compared with English origin (63% and 31% respectively). We have now tested, in a blind study, 26 American...
In 13 patients, the GM2 gangliosidoses, Sandhoff disease and Tay-Sachs disease, were found to be constantly associated with homogeneously and symmetrically increased CT attenuation within the thalami. In the only patient examined with MR imaging, a T2-weighted sequence showed hypointense thalami. It is suggested that this finding is caused by an accumulation of calcium, associated with the intr...
We explored the advantages and disadvantages of using ethnic categories in genetic research. With the discovery that certain breast cancer gene mutations appeared to be more prevalent in Ashkenazi Jews, breast cancer researchers moved their focus from high-risk families to ethnicity. The concept of Ashkenazi Jews as genetically unique, a legacy of Tay-Sachs disease research and a particular rea...
Neurological rarities 392 Relapsing cerebral amyloid angiopathy-related inflammation: the wax and the wane S Salam, M Anandarajah, S Al-Bachari, P Pal, J Sussman, H Hamdalla 396 Late-onset Tay–Sachs disease A W Barritt, S J Anderson, P N Leigh, B H Ridha 400 Ictal pain in focal non-convulsive status epilepticus S Casciato, A Morano, J Fattouch, M Fanella, M Albini, A T Giallonardo, C Di Bonaven...
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