منابع مشابه
Peripheral facial palsy in the past: contributions from Avicenna, Nicolaus Friedreich and Charles Bell.
This study provides historical documents of peripheral facial palsy from Egypt, Greece and Rome, through the middle ages, and the renaissance, and into the last four centuries. We believe that the history of peripheral facial palsy parallels history of the human race itself. Emphasis is made on contributions by Avicenna and Nicolaus Friedreich. Controversies about the original clinical descript...
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Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition, FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the gene. This leads to reduc...
متن کاملHistorical Symposium on Nicolaus Steno
An international symposium on Nicolaus Steno and brain research in the seventeenth century was held in Copenhagen on 18-20 August 1965. The meeting was sponsored by the International Academy of the History of Medicine and the International Brain Research Organization, and organized by the Danish Society for the History of Medicine. Fifty-seven members, representing fourteen countries, took part...
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Friedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome-encoded mitochondrial protein. Low frataxin levels lead to insufficient biosynthesis of iron-sulfur clusters that are required for mitochondrial electro...
متن کاملIron and Friedreich ataxia.
Friedreich ataxia is due to insufficient levels of frataxin, a mitochondrial iron chaperone that shields this metal from reactive oxygen species (ROS) and renders it bioavailable as Fe II. Frataxin participates in the synthesis of iron-sulfur clusters (ISCs), cofactors of several enzymes, including mitochondrial and cytosolic aconitase, complexes I, II and III of the respiratory chain, and ferr...
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ژورنال
عنوان ژورنال: Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin
سال: 1882
ISSN: 0945-6317,1432-2307
DOI: 10.1007/bf01931357