نتایج جستجو برای: kennedy disease

تعداد نتایج: 1493363  

Journal: :Journal of the neurological sciences 1995
G J Jöbsis E S Louwerse M de Visser R A Wolterman P A Bolhuis H F Busch H T Brüggenwirth F Baas W M Wiersinga J H Koelman

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.

2017
Yating Chen Peng Luo Zhongli Li Hengping Hu Duobin Wu Tingting Xu Xingzuo Wang Haiting Xie

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...

Journal: :AJNR. American journal of neuroradiology 2013
C C Pieper I K Teismann C Konrad W L Heindel H Schiffbauer

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...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2007
Douglas Ashley Monks Jamie A Johansen Kaiguo Mo Pengcheng Rao Bryn Eagleson Zhigang Yu Andrew P Lieberman S Marc Breedlove Cynthia L Jordan

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...

Journal: :Physical review letters 2011
Tzu-Chieh Wei Ian Affleck Robert Raussendorf

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...

Journal: :American Journal of Neuroradiology 2013

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