The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a...

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Main Authors: Rosenbohm, Angela (Author) , Lux, Susanne (Author) , Volk, Alexander E. (Author) , Grehl, Torsten (Author) , Großkreutz, Julian (Author) , Hanisch, Frank (Author) , Herrmann, Andreas (Author) , Kollewe, Katja (Author) , Kreß, Wolfram (Author) , Meyer, Thomas (Author) , Petri, Susanne (Author) , Prudlo, Johannes (Author) , Wessig, Carsten (Author) , Müller, Hans-Peter (Author) , Dreyhaupt, Jens (Author) , Weishaupt, Jochen H. (Author) , Kubisch, Christian (Author) , Kassubek, Jan Rainer (Author) , Weydt, Patrick (Author) , Ludolph, Albert C. (Author)
Format: Article (Journal)
Language:English
Published: 20 February 2018
In: Journal of neurology
Year: 2018, Volume: 265, Issue: 5, Pages: 1026-1036
ISSN:1432-1459
DOI:10.1007/s00415-018-8790-2
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00415-018-8790-2
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Author Notes:Angela Rosenbohm, Susanne Hirsch, Alexander E. Volk, Torsten Grehl, Julian Grosskreutz, Frank Hanisch, Andreas Herrmann, Katja Kollewe, Wolfram Kress, Thomas Meyer, Susanne Petri, Johannes Prudlo, Carsten Wessig, Hans-Peter Müller, Jens Dreyhaupt, Jochen Weishaupt, Christian Kubisch, Jan Kassubek, Patrick Weydt, Albert C. Ludolph
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Summary:Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a basis for the selection of biomarkers for future therapeutic trials.
Item Description:Gesehen am 15.07.2021
Physical Description:Online Resource
ISSN:1432-1459
DOI:10.1007/s00415-018-8790-2