36 citations
,
July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
May 2015 in “Endocrinología y nutrición” This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.
65 citations
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September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
48 citations
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June 2014 in “Neurobiology of Disease” This study found that stem cells derived from spinal and bulbar muscular atrophy patients exhibited reduced androgen receptor levels and HDAC6, providing potential insights into the disease mechanism for future therapies.
186 citations
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July 1998 in “Journal of Cutaneous Medicine and Surgery” This study found that shorter CAG-repeat lengths in the androgen receptor may be associated with the development of androgen-mediated skin disorders like androgenetic alopecia, acne, and hirsutism in both men and women.