Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51667
Abstract: Patients with spinal and bulbar muscular atrophy (SBMA) often experience muscular weakness under cold exposure. read more here.
Keywords: bulbar muscular; muscular atrophy; mexiletine spinal; spinal bulbar ... See more keywords
Correlation of insulin resistance and motor function in spinal and bulbar muscular atrophy
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8405-3
Abstract: This study aimed to evaluate various metabolic parameters in patients with spinal and bulbar muscular atrophy (SBMA), to investigate the association between those indices and disease severity, and to explore the underlying molecular pathogenesis. We… read more here.
Keywords: spinal bulbar; resistance; insulin resistance; sbma patients ... See more keywords
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-8790-2
Abstract: ObjectiveSpinal 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… read more here.
Keywords: cag; cag repeat; duration; muscular atrophy ... See more keywords
Ultrasonographic evaluation reveals thinning of cervical nerve roots and peripheral nerves in spinal and bulbar muscular atrophy
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-022-05969-1
Abstract: Ultrasonography (US) is a noninvasive and patient-friendly tool for the evaluation of peripheral nerves. In motor neuron diseases, amyotrophic lateral sclerosis (ALS) has been reported to show the atrophy of peripheral nerves on US. However,… read more here.
Keywords: bulbar muscular; nerve roots; spinal bulbar; atrophy ... See more keywords
Metabolic alterations in spinal and bulbar muscular atrophy.
Sign Up to like & getrecommendations! Published in 2020 at "Revue neurologique"
DOI: 10.1016/j.neurol.2020.03.020
Abstract: Spinal and bulbar muscular atrophy (SBMA) is a rare, X-linked neuromuscular disease characterised by lower motor neurons degeneration, slowly progressive myopathy and multisystem involvement. SBMA is caused by trinucleotide repeat expansion in the first exon… read more here.
Keywords: spinal bulbar; metabolic alterations; bulbar muscular; muscular atrophy ... See more keywords
Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-106963
Abstract: Background Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is an X-linked motor neuron disorder caused by an expanded CAG repeat in the gene coding for the androgen receptor (AR). The range… read more here.
Keywords: range; penetrance; spinal bulbar; penetrance alleles ... See more keywords
Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.931301
Abstract: Spinal and Bulbar Muscular Atrophy (SBMA) is an X-linked adult-onset progressive neuromuscular disease that affects the spinal and bulbar motor neurons and skeletal muscles. SBMA is caused by expansion of polymorphic CAG trinucleotide repeats in… read more here.
Keywords: bulbar; posttranslational modifications; muscular atrophy; spinal bulbar ... See more keywords
Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders
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DOI: 10.3390/genes13010109
Abstract: The recent advances in nucleic acid therapeutics demonstrate the potential to treat hereditary neurological disorders by targeting their causative genes. Spinal and bulbar muscular atrophy (SBMA) is an X-linked and adult-onset neurodegenerative disorder caused by… read more here.
Keywords: bulbar muscular; neurological disorders; spinal bulbar; atrophy ... See more keywords