Articles with "kennedy disease" as a keyword



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Endocrinal description of two Chinese Kennedy’s disease pedigrees

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Published in 2018 at "Journal of Clinical Neuroscience"

DOI: 10.1016/j.jocn.2017.10.037

Abstract: Kennedy's disease (KD), also known as X-linked spinal and bulbar muscular atrophy (SBMA), is caused by the expansion of cytosine-adenine-guanine (CAG) repeats in the first exon of the androgen receptor (AR) gene. KD is a… read more here.

Keywords: kennedy disease; two chinese; disease; family survey ... See more keywords
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The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations

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Published in 2020 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-020-01366-z

Abstract: Background Kennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The… read more here.

Keywords: kennedy disease; french national; disease; management ... See more keywords