نتایج جستجو برای: kennedy disease
تعداد نتایج: 1493363 فیلتر نتایج به سال:
Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven male patients with a benign motor neuron syndrome highly analogous to Kennedy disease but with a normal trinucleotide repeat.
RATIONALE Kennedy disease (KD) is also known as spinal bulbar muscular dystrophy. As KD has similar symptoms with most neuromuscular diseases, so it is difficult to make a rapid diagnosis clinically. PATIENT CONCERNS We report a case of a 43-year-old male with progressive limb proximal weakness without family history. Physical examination showed gynecomastia, erectile dysfunction, bilateral t...
BACKGROUND AND PURPOSE Kennedy disease is a rare X-linked neurodegenerative disorder caused by a CAG repeat expansion in the first exon of the androgen-receptor gene. Apart from neurologic signs, this mutation can cause a partial androgen insensitivity syndrome with typical alterations of gonadotropic hormones produced by the pituitary gland. The aim of the present study was therefore to evalua...
We created transgenic mice that overexpress WT androgen receptor (AR) exclusively in their skeletal muscle fibers. Unexpectedly, these mice display androgen-dependent muscle weakness and early death, show changes in muscle morphology and gene expression consistent with neurogenic atrophy, and exhibit a loss of motor axons. These features reproduce those seen in models of Kennedy disease, a poly...
Universal quantum computation can be achieved by simply performing single-qubit measurements on a highly entangled resource state, such as cluster states. The family of Affleck-Kennedy-Lieb-Tasaki states has recently been intensively explored and shown to provide restricted computation. Here, we show that the two-dimensional Affleck-Kennedy-Lieb-Tasaki state on a honeycomb lattice is a universa...
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