The role of ubiquitination in spinal and bulbar muscular atrophy [PDF]
Frontiers in Molecular Neuroscience, 2022 Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative and neuromuscular genetic disease caused by the expansion of a polyglutamine-encoding CAG tract in the androgen receptor (AR) gene.
Medha Sengupta +2 more
doaj +4 more sources
Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy [PDF]
Frontiers in Neurology, 2021 Background: Spinal and bulbar muscular atrophy (SBMA) or Kennedy disease [OMIM: 313200] is a rare X-linked neuromuscular disease. Patients commonly present with muscle cramps, tremors, leg weakness, dysarthria and dysphagia.Methods: We deeply phenotyped ...
Elina Millere +18 more
doaj +6 more sources
Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report [PDF]
Journal of Rehabilitation Medicine - Clinical Communications, 2022 Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative ...
Vincent Shieh +7 more
doaj +2 more sources
Castration‐resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy [PDF]
IJU Case Reports, 2022 Introduction We report a prostate cancer case diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy which is a X‐linked recessive, lower motor neuron disease.
Atsuhi Yanase +9 more
doaj +2 more sources
Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial [PDF]
Annals of Clinical and Translational Neurology, 2022 Objective Patients with spinal and bulbar muscular atrophy (SBMA) often experience muscular weakness under cold exposure. Methods In our previously conducted observational study, we assessed nerve conduction and grip strength to examine the effect of ...
Shinichiro Yamada +10 more
doaj +2 more sources
Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology [PDF]
Neural Regeneration ResearchSpinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene, which encodes a ligand-dependent transcription factor.
Yiyang Qin +8 more
doaj +2 more sources
Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy [PDF]
Frontiers in Molecular Neuroscience, 2022 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.
Neha Gogia +9 more
doaj +2 more sources
A spinal and bulbar muscular atrophy (SBMA) disease-specific human embryonic stem cell (hESC) line, UMICHe002-A/UM197-1 [PDF]
Stem Cell ResearchSpinal and Bulbar Muscular Atrophy (SBMA) is an X-linked degenerative disorder of the neuromuscular system that is caused by an expanded CAG/polyglutamine (polyQ) tract within the Androgen Receptor (AR) gene.
Indri Erliandri +4 more
doaj +2 more sources
Protein biomarker signature in patients with spinal and bulbar muscular atrophy [PDF]
JCI InsightSpinal and bulbar muscular atrophy (SBMA) is a slowly progressing disease with limited sensitive biomarkers that support clinical research. We analyzed plasma and serum samples from patients with SBMA and matched healthy controls in multiple cohorts ...
Andrew T.N. Tebbenkamp +10 more
doaj +2 more sources
Correlation Between Maximal Tongue Pressure and Swallowing Function in Spinal and Bulbar Muscular Atrophy [PDF]
Frontiers in Neurology, 2021 Background: Spinal and bulbar muscular atrophy (SBMA) is an X-lined motor neuron disease characterized by progressive muscle weakness, bulbar palsy, and dysphagia.
Dae-Won Gwak +7 more
doaj +2 more sources