نتایج جستجو برای: friedreich ataxia
تعداد نتایج: 17893 فیلتر نتایج به سال:
The discovery of multiple signaling cascades downstream of Atm may lead to a clearer understanding of the diverse defects seen in ataxia-telangiectasia. These pathways - which include evolutionarily conserved Chk1 and Atr, and non-conserved p21, p53 and AbI - guard genomic integrity after DNA damage.
A preliminary genealogical investigation of all the known ancestors from the year 1608 of 4 apparently unrelated French Canadian kindreds with Friedreich's ataxia reveals that the original ataxia gene in the province of Quebec was present within a core of no more than 10 families living in Quebec City in the mid-1600's.
The occurrence of mental changes in association with FrIedreich's ataxia has received sporadic notice from time to time. Saquet (1919) reviewed the literature on this subject.. Further contributions from the neuro-pathological standpoint came from Trelles (1934), whilst the genetics of this association received comment from de Smet and others (1937). Sjogren (1943) and Davies (1949) have discus...
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