Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.

doi:10.1136/jnnp-2015-311305

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Article

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2016

Querin Giorgia, Bertolin Cinzia, Da Re Elisa, Volpe Marco, Zara Gabriella, Pegoraro Elena, Caretta Nicola, Foresta Carlo, Silvano Maria, Corrado Domenico, Iafrate Massimo, Angelini Lorenzo, Sartori Leonardo, Pennuto Maria, Gaiani Alessandra, Bello Luca, Semplicini Claudio, Pareyson Davide, Silani Vincenzo, Ermani Mario, Ferlin Alberto, Sorarù Gianni

Abstract excerpt

OBJECTIVE: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). METHODS: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology. RESULTS: Creatine kinase levels were...

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PMID: 26503015
DOI: 10.1136/jnnp-2015-311305
PMCID: PMC4975824

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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